SAM(UNPR) Annotations
| Gene Info | Sum Func | SP Function | Gene Ontology |
|---|---|---|---|
| Unique id: H003335_01
Name:S100 calcium binding protein A9 (calgranulin B) Chromosome: 1 Cytoband:1q21 |
Sum Func: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. | SP Function: expressed by macrophages in acutely inflammated tissues and in chronic inflammations. seem to be an inhibitor of protein kinases. also expressed in epithelial cells constitutively or induced during dermatoses. may interact with components of the intermediate filaments in monocytes and epithelial cells. | Gene Ontology: molecular function: calcium ion binding biological process: cell-cell signaling cellular component: extracellular space biological process: inflammatory response molecular function: signal transducer activity |
| Unique id : H003989_01
Name: Inositol 1,3,4-triphosphate 5/6 kinase Chromosome: 14 Cytoband: 14q31 |
Sum Func: | SP Function: | Gene Ontology: molecular function: catalytic activity molecular function: kinase activity biological process: signal transduction |
| Unique id : H007241_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003124_01
Name: Fc fragment of IgG, receptor, transporter, alpha Chromosome: 19 Cytoband: 19q13.3 |
Sum Func: | SP Function: binds to the fc region of monomeric immunoglobulins gamma. mediates the uptake of igg from milk. possible role in transfer of immunoglobulin g from mother to fetus. | Gene Ontology: molecular function: IgG binding biological process: immune response cellular component: integral to membrane biological process: pregnancy molecular function: receptor activity |
| Unique id : H015437_01
Name: Hypothetical protein FLJ22595 Chromosome: 3 Cytoband: 3q25.33 |
Sum Func: | SP Function: | Gene Ontology: molecular function: GTP binding biological process: small GTPase mediated signal transduction |
| Unique id : H001753_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H010464_01
Name: Ubiquitin-conjugating enzyme E2L 6 Chromosome: 11;14;17;6 Cytoband: 11q12 |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. | SP Function: catalyzes the covalent attachment of ubiquitin to other proteins. functions in the e6/e6-ap-induced ubiquitination of p53/tp53. | Gene Ontology: molecular function: ligase activity molecular function: ubiquitin conjugating enzyme activity molecular function: ubiquitin conjugating enzyme activity biological process: ubiquitin cycle molecular function: ubiquitin-protein ligase activity |
| Unique id : H000842_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002974_01
Name: Protein phosphatase 1F (PP2C domain containing) Chromosome: 22 Cytoband: 22q11.22 |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. | SP Function: dephosphorylates and concomitantly deactivates cam- kinase ii activated upon autophosphorylation, and cam-kinases iv and i activated upon phosphorylation by cam-kinase kinase. promotes apoptosis. | Gene Ontology: biological process: apoptosis molecular function: hydrolase activity molecular function: magnesium ion binding molecular function: manganese ion binding biological process: protein amino acid dephosphorylation molecular function: protein serine/threonine phosphatase activity cellular component: protein serine/threonine phosphatase complex |
| Unique id : H014586_01
Name: Zinc finger, DHHC domain containing 18 Chromosome: 1 Cytoband: 1p36.11 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002038_01
Name: Flavin containing monooxygenase 5 Chromosome: 1 Cytoband: 1q21.1 |
Sum Func: Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. | SP Function: in contrast with other forms of fmo it does not seem to be a drug-metabolizing enzyme. | Gene Ontology: molecular function: dimethylaniline monooxygenase (N-oxide-forming) activity molecular function: disulfide oxidoreductase activity biological process: electron transport cellular component: integral to membrane cellular component: microsome |
| Unique id : H002450_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H015517_01
Name: G-protein signalling modulator 3 (AGS3-like, C. elegans) Chromosome: 6 Cytoband: 6p21.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: GTPase activator activity cellular component: cellular_component unknown biological process: immune response biological process: signal transduction |
| Unique id : H001290_01
Name: S100 calcium binding protein A12 (calgranulin C) Chromosome: 1 Cytoband: 1q21 |
Sum Func: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. | SP Function: calcitermin possesses antifungal activity against c.albicans and is also active against e.coli and p.aeruginosa but not l.monocytogenes and s.aureus. | Gene Ontology: molecular function: calcium ion binding cellular component: cytosol biological process: defense response to bacteria biological process: defense response to fungi biological process: inflammatory response cellular component: insoluble fraction biological process: xenobiotic metabolism |
| Unique id : H000825_01
Name: S100 calcium binding protein A8 (calgranulin A) Chromosome: 1 Cytoband: 1q21 |
Sum Func: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. | SP Function: expressed by macrophages in chronic inflammations. also expressed in epithelial cells constitutively or induced during dermatoses. may interact with components of the intermediate filaments in monocytes and epithelial cells. | Gene Ontology: molecular function: calcium ion binding cellular component: extracellular space biological process: inflammatory response |
| Unique id : H001935_01
Name: Glyceraldehyde-3-phosphate dehydrogenase Chromosome: 12 Cytoband: 12p13 |
Sum Func: Glyceraldehyde-3-phosphate dehydrogenase catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The enzyme exists as a tetramer of identical chains. A GAPD pseudogene has been mapped to Xp21-p11 and 15 GAPD-like loci have been identified. | SP Function: | Gene Ontology: cellular component: cytoplasm biological process: glucose metabolism molecular function: glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) activity biological process: glycolysis molecular function: oxidoreductase activity |
| Unique id : H003786_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H005830_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003225_01
Name: Interferon regulatory factor 7 Chromosome: 11;13 Cytoband: 11p15.5 |
Sum Func: IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. | SP Function: transcriptional activator. binds to the interferon- stimulated response element (isre) in ifn promoters and in the q promoter (qp) of ebv nuclear antigen-1 (ebna1). | Gene Ontology: cellular component: cytoplasm biological process: inflammatory response biological process: negative regulation of transcription from Pol II promoter cellular component: nucleus biological process: passive viral induction of host immune response biological process: regulation of transcription, DNA-dependent biological process: response to DNA damage stimulus biological process: response to virus molecular function: specific RNA polymerase II transcription factor activity molecular function: transcription factor activity biological process: transcription initiation from Pol II promoter |
| Unique id : H002062_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004077_01
Name: Mortality factor 4 Chromosome: 4 Cytoband: 4q33-q34.1 |
Sum Func: Cellular senescence, the terminal nondividing state that normal cells enter following completion of their proliferative potential, is the dominant phenotype in hybrids of normal and immortal cells. Fusions of immortal human cell lines with each other have led to their assignment to 1 of several complementation groups. MORF4 is a gene on chromosome 4 that induces a senescent-like phenotype in cell lines assigned to complementation group B.[supplied by OMIM] | SP Function: plays a role in growth regulation and replicative senescence. could act as a transcription factor or interact with other proteins to inhibit or enhance their function. capable of reversing the immortal phenotype of a subset of immortal cells. induces a senescent-like phenotype in cell lines assigned to complementation group b. overexpression of morf4 in hela cells ultimately caused abnormal nuclear morphology and cell death. inactivation of morf4 is not required for keratinocyte immortality. | Gene Ontology: biological process: aging cellular component: nucleus biological process: regulation of cell growth molecular function: transcription factor activity |
| Unique id : H001757_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004910_01
Name: Mitogen-activated protein-binding protein-interacting protein Chromosome: 1 Cytoband: 1q22 |
Sum Func: | SP Function: | Gene Ontology: cellular component: Golgi apparatus |
| Unique id : H015345_01
Name: Chromosome 10 open reading frame 64 Chromosome: 10;3 Cytoband: 10q11.23 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000403_01
Name: Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide Chromosome: 1;11;12 Cytoband: 1q23 |
Sum Func: The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. | SP Function: the gamma subunit has a critical role in allowing the ige fc receptor to reach the cell surface. | Gene Ontology: molecular function: IgE binding biological process: cell surface receptor linked signal transduction biological process: immune response cellular component: integral to plasma membrane molecular function: receptor signaling protein activity molecular function: transmembrane receptor activity |
| Unique id : H005241_01
Name: Split hand/foot malformation (ectrodactyly) type 1 Chromosome: 7 Cytoband: 7q21.3-q22.1 |
Sum Func: The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with brCA2. It also may play a role in the completion of the cell cycle. | SP Function: | Gene Ontology: biological process: embryonic limb morphogenesis molecular function: peptidase activity cellular component: proteasome complex (sensu Eukaryota) molecular function: protein binding biological process: proteolysis and peptidolysis |
| Unique id : H012995_01
Name: MRNA; cDNA DKFZp564J2116 (from clone DKFZp564J2116) |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002950_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H012358_01
Name: DKFZp564J157 protein Chromosome: 12;19 Cytoband: 12q12 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001857_01
Name: Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) Chromosome: 6 Cytoband: 6p21.3 |
Sum Func: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. | SP Function: involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with mhc class i molecules. also acts as a molecular scaffold for the final stage of mhc class i folding, namely the binding of peptide. nascent mhc class i molecules associate with tap via tapasin. inhibited by the covalent attachment of herpes simplex virus icp47 protein, which blocks the peptide-binding site of tap. inhibited by human cytomegalovirus us6 glycoprotein, which binds to the lumenal side of the tap complex and inhibits peptide translocation by specifically blocking atp-binding to tap1 and prevents the conformational rearrangement of tap induced by peptide binding. inhibited by human adenovirus e3-19k glycoprotein, which binds the tap complex and acts as a tapasin inhibitor, preventing mhc class i/tap association. expression of tap1 is down-regulated by human Epstein-barr virus vil-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by mhc class i molecules. | Gene Ontology: molecular function: ATP binding molecular function: ATPase activity molecular function: ATPase activity, coupled to transmembrane movement of substances cellular component: endoplasmic reticulum biological process: immune response cellular component: integral to membrane molecular function: nucleotide binding biological process: oligopeptide transport molecular function: oligopeptide transporter activity molecular function: transporter activity |
| Unique id : H003463_01
Name: Spleen focus forming virus (SFFV) proviral integration oncogene spi1 Chromosome: 11 Cytoband: 11p11.2 |
Sum Func: | SP Function: binds to the pu-box, a purine-rich dna sequence (5'- gaggaa-3') that can act as a lymphoid-specific enhancer. this protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or b- cells. | Gene Ontology: biological process: cell growth and/or maintenance biological process: negative regulation of transcription from Pol II promoter cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity |
| Unique id : H000035_01
Name: PYD and CARD domain containing Chromosome: 16 Cytoband: 16p12-p11.2 |
Sum Func: This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Three transcript variants encoding different isoforms have been noted for this gene. | SP Function: | Gene Ontology: biological process: caspase activation molecular function: caspase activator activity cellular component: cytoplasm biological process: induction of apoptosis biological process: negative regulation of cell cycle molecular function: protein binding biological process: regulation of apoptosis biological process: signal transduction |
| Unique id : H001931_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000565_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008261_01
Name: RAS guanyl releasing protein 2 (calcium and DAG-regulated) Chromosome: 11 Cytoband: 11q13 |
Sum Func: The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Two alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been reported. | SP Function: | Gene Ontology: molecular function: Ras guanyl nucleotide exchange factor activity biological process: Ras protein signal transduction molecular function: calcium ion binding cellular component: cytosol molecular function: diacylglycerol binding cellular component: plasma membrane biological process: regulation of cell growth |
| Unique id : H012162_01
Name: Vesicle-associated membrane protein 5 (myobrevin) Chromosome: 2 Cytoband: 2p11.2 |
Sum Func: Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. | SP Function: may participate in trafficking events that are associated with myogenesis, such as myoblast fusion and/or glut4 trafficking. | Gene Ontology: cellular component: integral to membrane biological process: myogenesis cellular component: plasma membrane |
| Unique id : H000670_01
Name: Interferon stimulated gene 20kDa Chromosome: 15 Cytoband: 15q26 |
Sum Func: | SP Function: | Gene Ontology: biological process: cell proliferation molecular function: exonuclease activity cellular component: intracellular cellular component: nucleoplasm |
| Unique id : H001850_01
Name: Interferon, alpha-inducible protein (clone IFI-15K) Chromosome: 1 Cytoband: 1p36.33 |
Sum Func: | SP Function: acts as ubiquitin by conjugation to intracellular target proteins, through an enzyme pathway distinct from that of ubiquitin, differing in substrate specificity and interaction with ligating enzymes. targets include serpina3g/spi2a, jak1, mapk3/erk1 and plcg1. shows specific chemotactic activity towards neutrophils and activates them to induce release of eosinophil chemotactic factors. may serve as a trans-acting binding factor directing the association of ligated target proteins to intermediate filaments. may also be involved in autocrine, paracrine and endocrine mechanisms, as in cell-to-cell signaling, possibly partly by inducing ifn-gamma secretion by monocytes and macrophages. | Gene Ontology: biological process: cell-cell signaling cellular component: cytoplasm cellular component: extracellular space biological process: immune response molecular function: protein binding |
| Unique id : H006273_01
Name: B cell RAG associated protein Chromosome: 10 Cytoband: 10q26 |
Sum Func: | SP Function: | Gene Ontology: molecular function: 3'-phosphoadenosine 5'-phosphosulfate binding molecular function: N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity molecular function: N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity biological process: hexose biosynthesis biological process: hexose biosynthesis cellular component: integral to membrane cellular component: integral to membrane biological process: regulation of B-cell differentiation biological process: regulation of DNA recombination |
| Unique id : H012306_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H012627_01
Name: DAZ associated protein 2 Chromosome: 12;2;22 Cytoband: 12q12 |
Sum Func: In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region and is deleted in many azoospermic and severely oligospermic men. It is thought that the Y chromosomal DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. | SP Function: | Gene Ontology: |
| Unique id : H011606_01
Name: T-complex-associated-testis-expressed 1-like 1 Chromosome: 6 Cytoband: 6q25.2-q25.3 |
Sum Func: | SP Function: | Gene Ontology: cellular component: dynein complex molecular function: motor activity |
| Unique id : H010766_01
Name: Glia maturation factor, gamma Chromosome: 19 Cytoband: 19q13.2 |
Sum Func: | SP Function: | Gene Ontology: molecular function: actin binding molecular function: enzyme activator activity molecular function: growth factor activity cellular component: intracellular biological process: protein amino acid phosphorylation molecular function: protein kinase inhibitor activity |
| Unique id : H009719_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000438_01
Name: CASP8 and FADD-like apoptosis regulator Chromosome: 2 Cytoband: 2q33-q34 |
Sum Func: | SP Function: apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. acts as an inhibitor of tnfrsf6 mediated apoptosis. a proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (disc) thereby blocking further recruitment and processing of caspase-8 at the complex. full length and shorter isoforms have been shown either to induce apoptosis or to reduce tnfrsf-triggered apoptosis. lacks enzymatic (caspase) activity. | Gene Ontology: biological process: anti-apoptosis molecular function: caspase activity biological process: induction of apoptosis by extracellular signals biological process: positive regulation of I-kappaB kinase/NF-kappaB cascade molecular function: protein binding biological process: proteolysis and peptidolysis biological process: regulation of apoptosis molecular function: signal transducer activity |
| Unique id : H011232_01
Name: Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) Chromosome: 2 Cytoband: 2p13.3-p13.1 |
Sum Func: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. | SP Function: | Gene Ontology: cellular component: integral to membrane biological process: muscle contraction cellular component: plasma membrane |
| Unique id : H001094_01
Name: Wingless-type MMTV integration site family, member 8B Chromosome: 10 Cytoband: 10q24 |
Sum Func: The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. | SP Function: ligand for members of the frizzled family of seven transmembrane receptors. may play an important role in the development and differentiation of certain forebrain structures, notably the hippocampus. | Gene Ontology: biological process: cell-cell signaling biological process: development cellular component: extracellular region biological process: frizzled-2 signaling pathway biological process: neurogenesis molecular function: signal transducer activity biological process: signal transduction |
| Unique id : H000389_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001431_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016105_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016075_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000399_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002342_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H011484_01
Name: Arginyl aminopeptidase (aminopeptidase B)-like 1 Chromosome: 2 Cytoband: 2q37.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: aminopeptidase activity molecular function: hydrolase activity molecular function: membrane alanyl aminopeptidase activity molecular function: metallopeptidase activity biological process: proteolysis and peptidolysis |
| Unique id : H004405_01
Name: Chemokine-like factor super family 6 Chromosome: 3 Cytoband: 3p23 |
Sum Func: This gene belongs to the chemokine-like factor gene superfamily, a novel superfamily that links the chemokine gene family and the transmembrane 4 superfamily. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. | SP Function: | Gene Ontology: biological process: chemotaxis molecular function: cytokine activity cellular component: integral to membrane |
| Unique id : H002931_01
Name: Selectin L (lymphocyte adhesion molecule 1) Chromosome: 1 Cytoband: 1q23-q25 |
Sum Func: SELL is a cell surface component that is a member of a family of adhesion/homing receptors which play important roles in leukocyte-endothelial cell interactions. The molecule is composed of multiple domains: one homologous to lectins, one to epidermal growth factor, and two to the consensus repeat units found in C3/C4 binding proteins. | SP Function: cell surface adhesion protein. mediate the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. | Gene Ontology: biological process: cell adhesion biological process: cell motility cellular component: integral to plasma membrane molecular function: protein binding molecular function: sugar binding |
| Unique id : H007119_01
Name: Acyl-CoA synthetase long-chain family member 1 Chromosome: 4 Cytoband: 4q34-q35 |
Sum Func: The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. | SP Function: | Gene Ontology: biological process: digestion biological process: fatty acid metabolism molecular function: ligase activity molecular function: long-chain-fatty-acid-CoA ligase activity molecular function: magnesium ion binding biological process: metabolism |
| Unique id : H007996_01
Name: GABA(A) receptor-associated protein Chromosome: 17;1 Cytoband: 17p13.1 |
Sum Func: Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. | SP Function: | Gene Ontology: cellular component: Golgi apparatus cellular component: plasma membrane biological process: protein targeting biological process: protein transport biological process: synaptic transmission molecular function: tubulin binding |
| Unique id : H002227_01
Name: Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) Chromosome: 17 Cytoband: 17q21.32 |
Sum Func: ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. | SP Function: integrin alpha-iib/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. it recognizes the sequence r-g-d in a wide array of ligands. it recognizes the sequence h-h-l-g-g-g-a-k-q-a-g-d-v in fibrinogen gamma chain. following activation integrin alpha- iib/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. this step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface. | Gene Ontology: biological process: cell adhesion biological process: cell-matrix adhesion cellular component: integrin complex cellular component: integrin complex biological process: integrin-mediated signaling pathway biological process: platelet activation molecular function: protein binding molecular function: receptor activity |
| Unique id : H003478_01
Name: Carcinoembryonic antigen-related cell adhesion molecule 3 Chromosome: 19 Cytoband: 19q13.2 |
Sum Func: | SP Function: | Gene Ontology: cellular component: integral to membrane |
| Unique id : H002055_01
Name: Growth factor receptor-bound protein 2 Chromosome: 17 Cytoband: 17q24-q25 |
Sum Func: The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology: biological process: intracellular signaling cascade |
| Unique id : H014526_01
Name: Hypothetical protein FLJ22662 Chromosome: 12 Cytoband: 12p13.1 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004486_01
Name: Endothelial differentiation, G-protein-coupled receptor 6 Chromosome: 19 Cytoband: 19p13.3 |
Sum Func: Endothelial differentiation, G-protein-coupled receptor 6 may regulate lymphocyte cell signaling. It is a member of the lysophospholipid/lysosphingolipid receptor family. | SP Function: | Gene Ontology: biological process: G-protein coupled receptor protein signaling pathway biological process: cytosolic calcium ion concentration elevation biological process: immune response cellular component: integral to plasma membrane molecular function: lipid binding molecular function: lysosphingolipid and lysophosphatidic acid receptor activity biological process: phospholipase C activation |
| Unique id : H003200_01
Name: Mitogen-activated protein kinase kinase 3 Chromosome: 17 Cytoband: 17q11.2 |
Sum Func: The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. | SP Function: dual specificity kinase. is activated by cytokines and environmental stress in vivo. catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the map kinase p38. | Gene Ontology: molecular function: ATP binding molecular function: MAP kinase kinase activity biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: protein-tyrosine kinase activity biological process: signal transduction molecular function: transferase activity |
| Unique id : H006866_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H005392_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016561_01
Name: Hypothetical protein FLJ12438 Chromosome: 1 Cytoband: 1p36.22 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016487_01
Name: Lipid phosphate phosphatase-related protein type 2 Chromosome: 19;17 Cytoband: 19p13.2 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H009670_01
Name: Clusterin associated protein 1 Chromosome: 16 Cytoband: 16p13.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H015627_01
Name: RUN and FYVE domain containing 1 Chromosome: 5 Cytoband: 5q35.3 |
Sum Func: | SP Function: | Gene Ontology: biological process: protein ubiquitination cellular component: ubiquitin ligase complex molecular function: ubiquitin-protein ligase activity molecular function: zinc ion binding |
| Unique id : H016180_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003981_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014630_01
Name: Rho GTPase activating protein 9 Chromosome: 12 Cytoband: 12q14 |
Sum Func: | SP Function: | Gene Ontology: molecular function: GTPase activator activity |
| Unique id : H012854_01
Name: Hect domain and RLD 6 Chromosome: 4 Cytoband: 4q22.1 |
Sum Func: | SP Function: | Gene Ontology: cellular component: intracellular biological process: ubiquitin cycle molecular function: ubiquitin-protein ligase activity |
| Unique id : H001425_01
Name: Membrane-associated RING-CH protein I Chromosome: 4 Cytoband: 4q32.2 |
Sum Func: | SP Function: | Gene Ontology: biological process: protein ubiquitination cellular component: ubiquitin ligase complex molecular function: ubiquitin-protein ligase activity molecular function: zinc ion binding |
| Unique id : H002683_01
Name: Tumor protein p53 inducible protein 11 Chromosome: 11 Cytoband: 11p11.2 |
Sum Func: | SP Function: | Gene Ontology: biological process: negative regulation of cell proliferation biological process: response to stress |
| Unique id : H000603_01
Name: TYRO protein tyrosine kinase binding protein Chromosome: 19 Cytoband: 19q13.1 |
Sum Func: This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (trEM2), also causes PLOSL. Two alternative transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described, but their full-length nature has not been determined. | SP Function: non-covalently associates with membrane glycoproteins of the killer-cell inhibitory receptor (kir) family without an itim in their cytoplasmic domain. crosslinking of kir-tyrobp complexes results in cellular activation. | Gene Ontology: biological process: cellular defense response cellular component: integral to plasma membrane biological process: intracellular signaling cascade molecular function: receptor activity molecular function: receptor signaling protein activity |
| Unique id : H002834_01
Name: Interferon gamma receptor 2 (interferon gamma transducer 1) Chromosome: 21 Cytoband: 21q22.11 |
Sum Func: The protein encoded by this gene is a type I integral membrane protein and belongs to the type II cytokine family of receptors. The encoded protein forms part of the interferon gamma receptor and is thought to interact with GAF, JAK1, and/or JAK2 in the interferon gamma signal transduction pathway. | SP Function: part of the receptor for interferon gamma. required for signal transduction. this accessory factor is an integral part of the ifn-gamma signal transduction pathway and is likely to interact with gaf, jak1, and/or jak2. | Gene Ontology: biological process: cell surface receptor linked signal transduction molecular function: hematopoietin/interferon-class (D200-domain) cytokine receptor activity cellular component: integral to plasma membrane molecular function: interferon-gamma receptor activity molecular function: receptor activity biological process: response to pathogenic bacteria biological process: response to virus |
| Unique id : H006115_01
Name: Formin-like 1 Chromosome: 17 Cytoband: 17q21 |
Sum Func: This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. | SP Function: | Gene Ontology: molecular function: Rho GTPase binding molecular function: actin binding biological process: actin cytoskeleton organization and biogenesis biological process: cell organization and biogenesis cellular component: cellular_component unknown |
| Unique id : H012726_01
Name: Dehydrogenase/reductase (SDR family) member 9 Chromosome: 2 Cytoband: 2q31.1 |
Sum Func: | SP Function: | Gene Ontology: molecular function: 3-alpha(17-beta)-hydroxysteroid dehydrogenase (NAD+) activity molecular function: 3-alpha(17-beta)-hydroxysteroid dehydrogenase (NAD+) activity biological process: 9-cis-retinoic acid biosynthesis biological process: 9-cis-retinoic acid biosynthesis molecular function: alcohol dehydrogenase activity molecular function: alcohol dehydrogenase activity biological process: androgen metabolism biological process: androgen metabolism biological process: epithelial cell differentiation biological process: epithelial cell differentiation cellular component: integral to endoplasmic reticulum membrane cellular component: integral to endoplasmic reticulum membrane biological process: metabolism cellular component: microsome cellular component: microsome molecular function: oxidoreductase activity biological process: progesterone metabolism molecular function: racemase and epimerase activity molecular function: retinol dehydrogenase activity molecular function: retinol dehydrogenase activity biological process: retinol metabolism biological process: retinol metabolism |
| Unique id : H001754_01
Name: Syntaxin binding protein 2 Chromosome: 19 Cytoband: 19p13.3-p13.2 |
Sum Func: | SP Function: involved in the protein trafficking from the golgi apparatus to the plasma membrane (by similarity). | Gene Ontology: cellular component: cellular_component unknown biological process: intracellular protein transport molecular function: syntaxin-2 binding molecular function: syntaxin-3 binding biological process: vesicle docking during exocytosis biological process: vesicle-mediated transport |
| Unique id : H008110_01
Name: Kinesin 2 60/70kDa Chromosome: 14;12 Cytoband: 14q32.3 |
Sum Func: | SP Function: kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. the light chain may function in coupling of cargo to the heavy chain or in the modulation of its atpase activity. | Gene Ontology: cellular component: kinesin complex cellular component: kinesin complex molecular function: microtubule motor activity |
| Unique id : H000473_01
Name: Uridine phosphorylase 1 Chromosome: 7 Cytoband: 7p12.3 |
Sum Func: | SP Function: | Gene Ontology: cellular component: cytoplasm biological process: nucleoside metabolism biological process: nucleotide catabolism molecular function: transferase activity, transferring glycosyl groups molecular function: uridine phosphorylase activity |
| Unique id : H006468_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014924_01
Name: Yippee-like 3 (Drosophila) Chromosome: 16 Cytoband: 16p11.2 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001361_01
Name: Serine/threonine kinase 10 Chromosome: 5 Cytoband: 5q35.1 |
Sum Func: | SP Function: can act on substrates such as myelin basic protein and histone 2a on serine and threonine residues (by similarity). | Gene Ontology: molecular function: ATP binding biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: transferase activity |
| Unique id : H012360_01
Name: Hypothetical protein FLJ10307 Chromosome: 1 Cytoband: 1p35.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H005583_01
Name: TatD DNase domain containing 2 Chromosome: 3 Cytoband: 3p25.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: hydrolase activity molecular function: nuclease activity |
| Unique id : H009181_01
Name: Selenoprotein X, 1 Chromosome: 16 Cytoband: 16p13.3 |
Sum Func: This gene encodes a selenoprotein, which contains selenocysteine at the active site. The selenocysteine is encoded by the usual stop codon TGA. This protein has high sequence similarity to the mouse protein, and it is present in a variety of adult and fetal tissues. This protein belongs to the methionine sulfoxide reductase B (MsrB) family. | SP Function: | Gene Ontology: biological process: biological_process unknown cellular component: cellular_component unknown molecular function: oxidoreductase activity |
| Unique id : H013863_01
Name: Histone 1, H2bk Chromosome: 6 Cytoband: 6p21.33 |
Sum Func: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family. This gene is found in the histone microcluster on chromosome 6p21.33. | SP Function: | Gene Ontology: molecular function: DNA binding biological process: chromosome organization and biogenesis (sensu Eukaryota) cellular component: nucleosome biological process: nucleosome assembly cellular component: nucleus |
| Unique id : H010477_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007856_01
Name: Chemokine-like factor Chromosome: 16 Cytoband: 16q22.1 |
Sum Func: The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. | SP Function: | Gene Ontology: biological process: cell proliferation molecular function: chemokine activity biological process: chemotaxis cellular component: extracellular region cellular component: integral to membrane biological process: lymphocyte chemotaxis biological process: macrophage chemotaxis biological process: neutrophil chemotaxis biological process: secretory pathway |
| Unique id : H006515_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H012858_01
Name: Beta-transducin repeat containing Chromosome: 10 Cytoband: 10q24.32 |
Sum Func: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. This protein is homologous to Xenopus bTrCP1, yeast Met30, Neurospora Scon2 and Drosophila Slimb proteins. It interacts with HIV-1 Vpu and connects CD4 to the proteolytic machinery. It also associates specifically with phosphorylated IkappaBalpha and beta-catenin destruction motifs, probably functioning in multiple transcriptional programs by activating the NF-kappaB pathway and inhibiting the beta-catenin pathway. | SP Function: substrate-recognition component of the scf (skp1-cul1-f- box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. regulates the stability of ctnnb1 and participates in wnt signaling. | Gene Ontology: biological process: Wnt receptor signaling pathway cellular component: endoplasmic reticulum molecular function: ligase activity biological process: signal transduction molecular function: ubiquitin conjugating enzyme activity biological process: ubiquitin cycle biological process: ubiquitin-dependent protein catabolism |
| Unique id : H000214_01
Name: Ras homolog gene family, member A Chromosome: 3 Cytoband: 3p21.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: GTP binding biological process: cell growth and/or maintenance cellular component: cytoskeleton molecular function: magnesium ion binding cellular component: membrane biological process: protein transport biological process: small GTPase mediated signal transduction |
| Unique id : H015349_01
Name: KIAA1639 protein Chromosome: 1 Cytoband: 1q42.13 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001792_01
Name: Cystatin A (stefin A) Chromosome: 3 Cytoband: 3q21 |
Sum Func: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. | SP Function: this is an intracellular thiol proteinase inhibitor. | Gene Ontology: molecular function: cysteine protease inhibitor activity cellular component: intracellular |
| Unique id : H010960_01
Name: ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e Chromosome: 5 Cytoband: 5q35.1 |
Sum Func: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. | SP Function: vacuolar atpase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | Gene Ontology: biological process: ATP synthesis coupled proton transport molecular function: hydrogen-transporting ATP synthase activity, rotational mechanism molecular function: hydrogen-transporting ATPase activity, rotational mechanism molecular function: hydrolase activity cellular component: membrane fraction biological process: proton transport cellular component: proton-transporting two-sector ATPase complex molecular function: transporter activity |
| Unique id : H002458_01
Name: Phosphodiesterase 1B, calmodulin-dependent Chromosome: 12 Cytoband: 12q13 |
Sum Func: | SP Function: has a preference for cgmp as a substrate. | Gene Ontology: biological process: apoptosis molecular function: calmodulin binding molecular function: calmodulin-dependent cyclic-nucleotide phosphodiesterase activity molecular function: hydrolase activity biological process: signal transduction |
| Unique id : H006533_01
Name: Aquaporin 9 Chromosome: 15 Cytoband: 15q22.1-22.2 |
Sum Func: The aquaporins/major intrinsic protein are a family of water-selective membrane channels. Aquaporin 9 has greater sequence similarity with AQP3 and AQP7 and they may be a subfamily. Aquaporin 9 allows passage of a wide variety of noncharged solutes. AQP9 stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. Aquaporin 9 may also have some role in specialized leukocyte functions such as immunological response and bactericidal activity. | SP Function: forms a channel with a broad specificity. mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, na(+), k(+), cl(-), and deprotonated monocarboxylates are excluded. also permeable to urea but not to glycerol. | Gene Ontology: biological process: immune response cellular component: integral to plasma membrane biological process: transport molecular function: transporter activity molecular function: water channel activity biological process: water transport |
| Unique id : H012770_01
Name: F-box and leucine-rich repeat protein 5 Chromosome: 4 Cytoband: 4p15.33 |
Sum Func: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternative splicing of this gene generates 2 transcript variants. | SP Function: | Gene Ontology: molecular function: iron ion binding molecular function: oxygen transporter activity biological process: transport biological process: ubiquitin cycle |
| Unique id : H016502_01
Name: Hedgehog interacting protein Chromosome: 4 Cytoband: 4q28-q32 |
Sum Func: This gene encodes a protein similar to the mouse hedgehog-interacting protein, a regulatory component of the hedgehog signalling pathway. Members of the hedgehog family are evolutionarily conserved proteins which are involved in many fundamental processes in embryonic development, including anteroposterior patterns of limbs and regulation of left-right asymmetry. | SP Function: | Gene Ontology: |
| Unique id : H009254_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001281_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004481_01
Name: Coatomer protein complex, subunit gamma Chromosome: 3 Cytoband: 3q21.3 |
Sum Func: | SP Function: the coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the er, via the golgi up to the trans golgi network. coatomer complex is required for budding from golgi membranes, and is essential for the retrograde golgi-to-er transport of dilysine-tagged proteins. in mammals, the coatomer can only be recruited by membranes associated to adp-ribosylation factors (arfs), which are small gtp-binding proteins; the complex also influences the golgi structural integrity, as well as the processing, activity, and endocytic recycling of ldl receptors (by similarity). | Gene Ontology: |
| Unique id : H000709_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H009668_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007243_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H015401_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001287_01
Name: Charcot-Leyden crystal protein Chromosome: 19 Cytoband: 19q13.1 |
Sum Func: Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. | SP Function: may have both, lysophospholipase and carbohydrate- binding activities. | Gene Ontology: biological process: antimicrobial humoral response (sensu Vertebrata) biological process: development molecular function: hydrolase activity biological process: lipid catabolism molecular function: lysophospholipase activity biological process: phospholipid metabolism molecular function: serine esterase activity molecular function: sugar binding |
| Unique id : H000397_01
Name: Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) Chromosome: 21 Cytoband: 21q22.3 |
Sum Func: In mouse, the interferon-inducible Mx protein is responsible for a specific antiviral state against influenza virus infection. The protein encoded by this gene is similar to the mouse protein as determined by its antigenic relatedness, induction conditions, physicochemical properties, and amino acid analysis. This cytoplasmic protein is a member of both the dynamin family and the family of large GTPases. | SP Function: shows activity against influenza virus and vsv, a rhabdovirus. | Gene Ontology: molecular function: GTP binding molecular function: GTPase activity cellular component: cytoplasm biological process: immune response biological process: induction of apoptosis biological process: signal transduction |
| Unique id : H002707_01
Name: Protein tyrosine phosphatase, receptor type, S Chromosome: 19 Cytoband: 19p13.3 |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. | SP Function: | Gene Ontology: biological process: cell adhesion molecular function: hydrolase activity cellular component: integral to plasma membrane biological process: protein amino acid dephosphorylation molecular function: protein binding molecular function: protein tyrosine phosphatase activity molecular function: receptor activity molecular function: transmembrane receptor protein tyrosine phosphatase activity |
| Unique id : H001694_01
Name: Phosphodiesterase 1A, calmodulin-dependent Chromosome: 2 Cytoband: 2q32.1 |
Sum Func: | SP Function: has a higher affinity for cgmp than for camp. | Gene Ontology: molecular function: calmodulin binding molecular function: calmodulin-dependent cyclic-nucleotide phosphodiesterase activity molecular function: hydrolase activity biological process: signal transduction |
| Unique id : H014061_01
Name: Calpain 10 Chromosome: 2 Cytoband: 2q37.3 |
Sum Func: Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM) and located within the NIDDM1 region. Multiple alternative transcript variants encoding different isoforms have been described for this gene. | SP Function: | Gene Ontology: molecular function: calpain activity cellular component: cytoplasm molecular function: hydrolase activity biological process: proteolysis and peptidolysis |
| Unique id : H006293_01
Name: ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c'' Chromosome: 1;19 Cytoband: 1p32.3 |
Sum Func: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is part of the transmembrane V0 domain and is the human counterpart of yeast VMA16. | SP Function: proton-conducting pore forming subunit of the membrane integral v0 complex of vacuolar atpase. v-atpase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | Gene Ontology: biological process: ATP synthesis coupled proton transport molecular function: hydrogen-transporting ATP synthase activity, rotational mechanism molecular function: hydrogen-transporting ATPase activity, rotational mechanism molecular function: hydrolase activity biological process: proton transport cellular component: proton-transporting two-sector ATPase complex molecular function: transporter activity |
| Unique id : H015306_01
Name: Core promoter element binding protein Chromosome: 10 Cytoband: 10p15 |
Sum Func: This gene encodes a nuclear protein that has three zinc fingers at the end of its C-terminal domain, a serine/threonine-rich central region, and an acidic domain lying within the N-terminal region. The zinc fingers of this protein are responsible for the specific DNA binding with the guanine-rich core promoter elements. The central region might be involved in activation or posttranslational regulatory pathways, and the acidic N-terminal domain might play an important role in the process of transcriptional activation. It is capable of activating transcription approximately 4-fold either on homologous or heterologous promoters. The DNA binding and transcriptional activity of this protein, in conjunction with its expression pattern, suggests that this protein may participate in the regulation and/or maintenance of the basal expression of pregnancy-specific glycoprotein genes and possibly other TATA box-less genes. Two transcript variants encoding the same protein have been found for this gene. | SP Function: transcriptional activator (by similarity). binds a gc box motif. could play a role in b-cell growth and development. | Gene Ontology: biological process: B-cell differentiation molecular function: DNA binding biological process: cell growth molecular function: nucleic acid binding cellular component: nucleus cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcriptional activator activity molecular function: zinc ion binding |
| Unique id : H014238_01
Name: Hypothetical protein LOC284367 Chromosome: 19 Cytoband: 19q13.41 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H012974_01
Name: Kelch-like 5 (Drosophila) Chromosome: 4 Cytoband: 4p14 |
Sum Func: | SP Function: | Gene Ontology: molecular function: actin binding biological process: actin cytoskeleton organization and biogenesis cellular component: cytoskeleton molecular function: protein binding |
| Unique id : H002537_01
Name: Golgi apparatus protein 1 Chromosome: 16 Cytoband: 16q22-q23 |
Sum Func: | SP Function: binds fibroblast growth factor and e-selectin (cell- adhesion lectin on endothelial cells mediating the binding of neutrophils). | Gene Ontology: cellular component: Golgi membrane molecular function: fibroblast growth factor binding cellular component: integral to membrane cellular component: membrane molecular function: receptor binding |
| Unique id : H004409_01
Name: Ig lambda light chain variable region |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004583_01
Name: Histone 1, H2ag Chromosome: 6 Cytoband: 6p22.1 |
Sum Func: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. | SP Function: | Gene Ontology: |
| Unique id : H008414_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H011990_01
Name: WD repeat domain 13 Chromosome: X Cytoband: Xp11.23 |
Sum Func: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is widely expressed in various tissues, and located in chromosome X. The function of this gene has not been determined. | SP Function: | Gene Ontology: cellular component: nucleus |
| Unique id : H004607_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001655_01
Name: Grancalcin, EF-hand calcium binding protein Chromosome: 2 Cytoband: 2q24.2 |
Sum Func: This gene product, grancalcin, is a calcium-binding protein abundant in neutrophils and macrophages. It belongs to the penta-EF-hand subfamily of proteins which includes sorcin, calpain, and ALG-2. Grancalcin localization is dependent upon calcium and magnesium. In the absence of divalent cation, grancalcin localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions, suggesting a role for grancalcin in granule-membrane fusion and degranulation. | SP Function: may play a role in granule-membrane fusion and degranulation. | Gene Ontology: molecular function: calcium ion binding cellular component: cytoplasm biological process: membrane fusion cellular component: plasma membrane |
| Unique id : H011862_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014035_01
Name: Hypothetical protein FLJ12455 Chromosome: 1 Cytoband: 1p35.3-p35.1 |
Sum Func: | SP Function: | Gene Ontology: cellular component: intracellular molecular function: nucleic acid binding |
| Unique id : H005397_01
Name: Ser/Thr-like kinase Chromosome: 1 Cytoband: 1p34.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: ATP binding biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: transferase activity |
| Unique id : H005391_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002406_01
Name: Jun B proto-oncogene Chromosome: 19 Cytoband: 19p13.2 |
Sum Func: | SP Function: transcription factor involved in regulating gene activity following the primary growth factor response. binds to the dna sequence 5'-tga[cg]tca-3'. | Gene Ontology: molecular function: RNA polymerase II transcription factor activity cellular component: chromatin cellular component: nucleus biological process: regulation of transcription from Pol II promoter molecular function: transcription coactivator activity molecular function: transcription corepressor activity molecular function: transcription factor activity |
| Unique id : H014363_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003706_01
Name: Ras homolog gene family, member G (rho G) Chromosome: 11 Cytoband: 11p15.5-p15.4 |
Sum Func: ARHG is a member of the RAS superfamily of genes, which encode GTP-binding proteins that act in the pathway of signal transduction and play a key role in the regulation of cellular functions.[supplied by OMIM] | SP Function: | Gene Ontology: molecular function: GTP binding molecular function: GTPase activity biological process: Rho protein signal transduction biological process: positive regulation of cell proliferation biological process: regulation of cell cycle |
| Unique id : H002158_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002802_01
Name: Neural precursor cell expressed, developmentally down-regulated 8 Chromosome: 14 Cytoband: 14q11.2 |
Sum Func: | SP Function: may play an important role during the embryonic development and differentiation of the central nervous system. may play an essential role in eukaryotic cellular metabolism (by similarity). | Gene Ontology: biological process: morphogenesis cellular component: nucleus biological process: proteolysis and peptidolysis molecular function: ubiquitin conjugating enzyme activity biological process: ubiquitin cycle biological process: ubiquitin-dependent protein catabolism |
| Unique id : H000063_01
Name: Phospholipid scramblase 1 Chromosome: 3 Cytoband: 3q23 |
Sum Func: | SP Function: may mediate accelerated atp-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. may play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system. | Gene Ontology: molecular function: calcium ion binding cellular component: integral to membrane molecular function: phospholipid scramblase activity biological process: phospholipid scrambling cellular component: plasma membrane biological process: platelet activation |
| Unique id : H001345_01
Name: Dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) Chromosome: 2 Cytoband: 2p13.1 |
Sum Func: The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus, and is novel in that it binds directly to RNA and splicing factors, and thus suggested to participate in nuclear mRNA metabolism. | SP Function: displays protein-tyrosine phosphatase activity and binds to rna. may participate in nuclear mrna metabolism. | Gene Ontology: molecular function: RNA binding biological process: RNA processing molecular function: hydrolase activity cellular component: nucleus biological process: protein amino acid dephosphorylation molecular function: protein tyrosine phosphatase activity |
| Unique id : H006310_01
Name: Tubulin, beta, 2 Chromosome: 9;4;17;8;10 |
Sum Func: | SP Function: | Gene Ontology: molecular function: GTP binding molecular function: GTPase activity molecular function: MHC class I protein binding cellular component: cytoskeleton biological process: microtubule polymerization biological process: microtubule-based movement biological process: natural killer cell mediated cytotoxicity molecular function: structural constituent of cytoskeleton cellular component: tubulin molecular function: unfolded protein binding |
| Unique id : H007096_01
Name: Endonuclease G-like 1 Chromosome: 3 Cytoband: 3p21.3 |
Sum Func: | SP Function: | Gene Ontology: biological process: biological_process unknown cellular component: cellular_component unknown molecular function: endonuclease activity molecular function: hydrolase activity molecular function: nucleic acid binding |
| Unique id : H002638_01
Name: Interleukin 10 receptor, beta Chromosome: 21 Cytoband: 21q22.1-q22.2 |
Sum Func: The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. | SP Function: receptor for il10 and il22. serves as an accessory chain essential for the active il10 receptor complex and to initiate il10-induced signal transduction events. | Gene Ontology: biological process: blood coagulation molecular function: hematopoietin/interferon-class (D200-domain) cytokine receptor activity biological process: immune response biological process: inflammatory response cellular component: integral to membrane cellular component: integral to membrane molecular function: interleukin-10 receptor activity cellular component: plasma membrane molecular function: receptor activity molecular function: receptor activity biological process: signal transduction |
| Unique id : H006690_01
Name: Myotubularin related protein 4 Chromosome: 17 Cytoband: 17q22-q23 |
Sum Func: | SP Function: | Gene Ontology: molecular function: hydrolase activity molecular function: phosphoprotein phosphatase activity biological process: protein amino acid dephosphorylation molecular function: zinc ion binding |
| Unique id : H014373_01
Name: Hairy and enhancer of split 4 (Drosophila) Chromosome: 1 Cytoband: 1p36.33 |
Sum Func: | SP Function: | Gene Ontology: molecular function: DNA binding biological process: development biological process: neurogenesis cellular component: nucleus biological process: regulation of transcription, DNA-dependent |
| Unique id : H003748_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003834_01
Name: Integrin, beta 5 Chromosome: 3 Cytoband: 3q21.2 |
Sum Func: | SP Function: integrin alpha-v/beta-5 is a receptor for fibronectin. it recognizes the sequence r-g-d it its ligand. | Gene Ontology: biological process: cell-matrix adhesion biological process: development cellular component: integral to membrane cellular component: integrin complex biological process: integrin-mediated signaling pathway molecular function: protein binding molecular function: receptor activity |
| Unique id : H000893_01
Name: Major histocompatibility complex, class I, E Chromosome: 6 Cytoband: 6p21.3 |
Sum Func: HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. | SP Function: preferably binds to a peptide derived from the signal sequence of most hla-a, -b, -c and -g molecules. | Gene Ontology: molecular function: MHC class I receptor activity biological process: antigen presentation, endogenous antigen biological process: antigen processing, endogenous antigen via MHC class I biological process: immune response cellular component: integral to membrane |
| Unique id : H016207_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000866_01
Name: CDW52 antigen (CAMPAth-1 antigen) Chromosome: 1 Cytoband: 1p36 |
Sum Func: | SP Function: may play a role in carrying and orienting carbohydrate, as well as having a more specific role. | Gene Ontology: cellular component: integral to plasma membrane cellular component: membrane cellular component: membrane fraction |
| Unique id : H015562_01
Name: Hypothetical protein MGC11349 Chromosome: 3 Cytoband: 3q21.2 |
Sum Func: | SP Function: | Gene Ontology: molecular function: nucleic acid binding cellular component: nucleus molecular function: zinc ion binding |
| Unique id : H011200_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001204_01
Name: Bone marrow stromal cell antigen 1 Chromosome: 4 Cytoband: 4p15 |
Sum Func: Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. | SP Function: synthesizes cyclic adp-ribose, a second messenger that elicits calcium release from intracellular stores. may be involved in pre-b-cell growth. | Gene Ontology: molecular function: NAD+ nucleosidase activity biological process: development cellular component: extrinsic to membrane biological process: humoral immune response molecular function: hydrolase activity |
| Unique id : H000514_01
Name: Neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1) Chromosome: 7 Cytoband: 7q11.23 |
Sum Func: NCF1 encodes neutrophil cytosolic factor 1, the 47-kilodalton cytosolic subunit of the multi-protein complex known as NADPH oxidase found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in NCF1, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease. | SP Function: ncf2, ncf1, and a membrane bound cytochrome b558 are required for activation of the latent nadph oxidase (necessary for superoxide production). | Gene Ontology: molecular function: GTP binding molecular function: GTPase activity biological process: cellular defense response cellular component: cytosol biological process: electron transport molecular function: electron transporter activity biological process: intracellular signaling cascade molecular function: protein binding cellular component: soluble fraction biological process: superoxide metabolism |
| Unique id : H013084_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H009654_01
Name: Family with sequence similarity 34, member A Chromosome: 1 Cytoband: 1p36.13-q42.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: acyltransferase activity cellular component: integral to membrane biological process: metabolism biological process: phospholipid biosynthesis molecular function: transferase activity |
| Unique id : H015237_01
Name: Peptidyl arginine deiminase, type IV Chromosome: 1 Cytoband: 1p36.13 |
Sum Func: This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. | SP Function: | Gene Ontology: molecular function: calcium ion binding molecular function: hydrolase activity biological process: protein modification molecular function: protein-arginine deiminase activity |
| Unique id : H013955_01
Name: Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 Chromosome: 19 Cytoband: 19q13.4 |
Sum Func: | SP Function: | Gene Ontology: biological process: cell surface receptor linked signal transduction biological process: immune response cellular component: integral to membrane molecular function: transmembrane receptor activity |
| Unique id : H012023_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014345_01
Name: Activation-induced cytidine deaminase Chromosome: 12 Cytoband: 12p13 |
Sum Func: | SP Function: | Gene Ontology: biological process: B-cell differentiation cellular component: cellular_component unknown molecular function: cytidine deaminase activity molecular function: hydrolase activity biological process: mRNA processing molecular function: zinc ion binding |
| Unique id : H014501_01
Name: Leukocyte receptor cluster (LRC) member 1 Chromosome: 19 Cytoband: 19q13.4 |
Sum Func: | SP Function: | Gene Ontology: biological process: biological_process unknown cellular component: cellular_component unknown molecular function: molecular_function unknown |
| Unique id : H001437_01
Name: Hypothetical protein DKFZp586I1420 Chromosome: 7 Cytoband: 7p15.1 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002831_01
Name: Fc fragment of IgG, low affinity IIIb, receptor for (CD16) Chromosome: 1 Cytoband: 1q23 |
Sum Func: | SP Function: receptor for the fc region of igg. binds complexed or aggregated igg and also monomeric igg. mediates antibody-dependent cellular cytotoxicity (adcc) and other antibody-dependent responses, such as phagocytosis. | Gene Ontology: molecular function: IgG binding biological process: immune response cellular component: integral to membrane cellular component: plasma membrane molecular function: receptor activity |
| Unique id : H005667_01
Name: Two pore segment channel 1 Chromosome: 12 Cytoband: 12q24.13 |
Sum Func: | SP Function: | Gene Ontology: molecular function: cation channel activity biological process: cation transport cellular component: integral to membrane |
| Unique id : H006258_01
Name: Caudal type homeo box transcription factor 2 Chromosome: 13 Cytoband: 13q12.3 |
Sum Func: | SP Function: involved in the transcriptional regulation of multiple genes expressed in the intestinal epithelium. important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine. | Gene Ontology: biological process: development cellular component: nucleus biological process: organogenesis biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity biological process: transcription from Pol II promoter |
| Unique id : H010562_01
Name: Pyridoxal (pyridoxine, vitamin B6) kinase Chromosome: 21 Cytoband: 21q22.3 |
Sum Func: The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. | SP Function: required for synthesis of pyridoxal-5-phosphate from vitamin b6. | Gene Ontology: molecular function: ATP binding molecular function: pyridoxal kinase activity molecular function: transferase activity |
| Unique id : H013478_01
Name: SNRPN upstream reading frame Chromosome: 15 Cytoband: 15q11.2 |
Sum Func: The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' Utr of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. | SP Function: | Gene Ontology: molecular function: RNA binding biological process: mRNA processing cellular component: nucleus molecular function: pre-mRNA splicing factor activity cellular component: small nucleolar ribonucleoprotein complex |
| Unique id : H015443_01
Name: Hypothetical gene supported by AK026773 Chromosome: 2 Cytoband: 2p16.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001845_01
Name: Spermidine/spermine N1-acetyltransferase Chromosome: X Cytoband: Xp22.1 |
Sum Func: Spermidine/spermine N(1)-acetyltransferase (SPD/SPM acetyltransferase) is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the N(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, spermine can be converted to spermidine and spermidine to putrescine.[supplied by OMIM] | SP Function: enzyme which catalyzes the acetylation of polyamines. substrate specificity: norspermidine = spermidine > > spermine > n(1)acetylspermine > putrescine. this highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. also involved in the regulation of polyamine transport out of cells. | Gene Ontology: molecular function: acyltransferase activity molecular function: diamine N-acetyltransferase activity molecular function: transferase activity |
| Unique id : H006256_01
Name: HERV-H Ltr-associating 2 Chromosome: 3 Cytoband: 3q13.13 |
Sum Func: | SP Function: | Gene Ontology: biological process: biological_process unknown cellular component: cellular_component unknown molecular function: molecular_function unknown |
| Unique id : H005534_01
Name: SEC6-like 1 (S. cerevisiae) Chromosome: 5 Cytoband: 5p15.33 |
Sum Func: The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the v-ral simian leukemia viral oncogene homolog A (RALA), a Ras-related small GTPase involved in controlling actin cytoskeletal remodeling and vesicle transport. The protein complex containing the similar protein in rat was reported to be involved in synaptic vesicle docking and fusion at the presynaptic terminal. | SP Function: | Gene Ontology: biological process: exocytosis biological process: protein transport |
| Unique id : H000599_01
Name: Protein phosphatase 1D magnesium-dependent, delta isoform Chromosome: 17 Cytoband: 17q23.2 |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. | SP Function: might contribute to growth inhibitory pathways activated in response to dna damage in a p53-dependent manner. | Gene Ontology: molecular function: hydrolase activity molecular function: magnesium ion binding molecular function: manganese ion binding biological process: negative regulation of cell proliferation cellular component: nucleus biological process: protein amino acid dephosphorylation molecular function: protein phosphatase type 2C activity cellular component: protein serine/threonine phosphatase complex biological process: regulation of cell cycle biological process: response to radiation |
| Unique id : H002763_01
Name: Mitogen-activated protein kinase kinase kinase 8 Chromosome: 10 Cytoband: 10p11.23 |
Sum Func: This gene was identified by its oncogenic transforming activity in cells. The encoded protein is a member of the serine/threonine protein kinase family. This kinase can activate both the MAP kinase and JNK kinase pathways. This kinase was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This kinase was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. Studies of a similar gene in rat suggested the direct involvement of this kinase in the proteolysis of NF-kappaB1,p105 (NFKB1). This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. | SP Function: able to activate nf-kappa-b 1 by stimulating proteasome- mediated proteolysis of nf-kappa-b 1/p105. plays a role in the cell cycle. the longer form of cot has some transforming activity, although it is much weaker than the activated cot oncoprotein. | Gene Ontology: molecular function: ATP binding biological process: cell growth and/or maintenance cellular component: cytosol biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: protein-tyrosine kinase activity molecular function: transferase activity |
| Unique id : H008422_01
Name: Aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) Chromosome: X Cytoband: Xp11.21 |
Sum Func: The nuclear ALAS2 gene specifies an erythroid-specific mitochondrially located enzyme. The ALAS2 gene product catalyzes the first step in the heme biosynthetic pathway. A second delta-aminolevulinate synthase gene (ALAS1)is located on chromosome 3 and is expressed in all tissues. A defective ALAS2 gene causes X-linked pyridoxine-responsive sideroblastic anemia (Hypochromic Anemia). | SP Function: | Gene Ontology: molecular function: 5-aminolevulinate synthase activity molecular function: acyltransferase activity biological process: biosynthesis biological process: heme biosynthesis biological process: heme biosynthesis cellular component: mitochondrion molecular function: transaminase activity molecular function: transferase activity |
| Unique id : H001185_01
Name: Arylsulfatase A Chromosome: 22 Cytoband: 22q13.31-qter |
Sum Func: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leukodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. | SP Function: hydrolyzes cerebroside sulfate. | Gene Ontology: molecular function: arylsulfatase activity molecular function: cerebroside-sulfatase activity molecular function: hydrolase activity cellular component: lysosome molecular function: magnesium ion binding biological process: metabolism biological process: sphingolipid metabolism |
| Unique id : H015038_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003284_01
Name: Myeloid cell nuclear differentiation antigen Chromosome: 1 Cytoband: 1q22 |
Sum Func: The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. | SP Function: may act as a transcriptional activator/repressor in the myeloid lineage. plays a role in the granulocyte/monocyte cell- specific response to interferon. stimulates the dna binding of the transcriptional repressor protein yy1. | Gene Ontology: molecular function: DNA binding biological process: cellular defense response cellular component: nucleus biological process: regulation of transcription, DNA-dependent |
| Unique id : H001033_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002233_01
Name: Selectin P ligand Chromosome: 12 Cytoband: 12q24 |
Sum Func: SELPLG is the high affinity counter-receptor for P-selectin on myeloid cells and stimulated T lymphocytes. As such, it plays a critical role in the tethering of these cells to activated platelets or endothelia expressing P-selectin. The organization of the SELPG gene closely resembles that of CD43 and the human platelet glycoprotein GpIb-alpha both of which have an intron in the 5-prime-noncoding region, a long second exon containing the complete coding region, and TATA-less promoters. | SP Function: binds to p-, e- and l-selectins. the calcium-dependent high affinity interaction with p-selectin mediates the tethering and rolling of neutrophils and t-lymphocytes on endothelial cells. | Gene Ontology: molecular function: bacterial binding biological process: cell adhesion cellular component: integral to plasma membrane cellular component: membrane fraction molecular function: protein binding molecular function: receptor binding |
| Unique id : H016085_01
Name: Aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) Chromosome: X Cytoband: Xp11.21 |
Sum Func: The nuclear ALAS2 gene specifies an erythroid-specific mitochondrially located enzyme. The ALAS2 gene product catalyzes the first step in the heme biosynthetic pathway. A second delta-aminolevulinate synthase gene (ALAS1)is located on chromosome 3 and is expressed in all tissues. A defective ALAS2 gene causes X-linked pyridoxine-responsive sideroblastic anemia (Hypochromic Anemia). | SP Function: | Gene Ontology: molecular function: 5-aminolevulinate synthase activity molecular function: acyltransferase activity biological process: biosynthesis biological process: heme biosynthesis biological process: heme biosynthesis cellular component: mitochondrion molecular function: transaminase activity molecular function: transferase activity |
| Unique id : H016109_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001538_01
Name: Cytochrome P450, family 4, subfamily F, polypeptide 3 Chromosome: 19;15 Cytoband: 19p13.2 |
Sum Func: This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. | SP Function: cytochromes p450 are a group of heme-thiolate monooxygenases. this enzyme requires molecular oxygen and nadph for the omega-hydroxylation of ltb4. it is inhibited by carbon monoxide (co). | Gene Ontology: biological process: electron transport cellular component: endoplasmic reticulum biological process: leukotriene metabolism molecular function: leukotriene-B4 20-monooxygenase activity cellular component: membrane cellular component: microsome |
| Unique id : H002358_01
Name: A disintegrin and metalloproteinase domain 8 Chromosome: 10 Cytoband: 10q26.3 |
Sum Func: Members of ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. The extracellular region of ADAM8 shows significant amino acid sequence homology to hemorrhagic snake venom proteins, including the metalloprotease and disintegrin domains. | SP Function: possible involvement in extravasation of leukocytes. | Gene Ontology: molecular function: hydrolase activity cellular component: integral to plasma membrane molecular function: metalloendopeptidase activity biological process: proteolysis and peptidolysis molecular function: zinc ion binding |
| Unique id : H007537_01
Name: Chloride channel 4 Chromosome: X Cytoband: Xp22.3 |
Sum Func: The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. | SP Function: voltage-gated chloride channel. chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. | Gene Ontology: biological process: chloride transport cellular component: integral to plasma membrane biological process: ion transport cellular component: membrane fraction molecular function: voltage-gated chloride channel activity |
| Unique id : H002964_01
Name: B-cell CLL/lymphoma 6 (zinc finger protein 51) Chromosome: 3 Cytoband: 3q27 |
Sum Func: The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Two alternatively spliced transcript variants that encode the identical protein have been reported for this gene. | SP Function: transcriptional regulator that probably plays an important role in lymphomagenesis. | Gene Ontology: biological process: cell growth and/or maintenance biological process: inflammatory response cellular component: mediator complex biological process: negative regulation of transcription from Pol II promoter cellular component: nucleus biological process: positive regulation of cell proliferation molecular function: protein binding biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity molecular function: zinc ion binding |
| Unique id : H007518_01
Name: C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9 Chromosome: 12 Cytoband: 12p13.31 |
Sum Func: This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in an inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. | SP Function: | Gene Ontology: biological process: antimicrobial humoral response (sensu Vertebrata) molecular function: sugar binding |
| Unique id : H014518_01
Name: Inositol 1,3,4-triphosphate 5/6 kinase Chromosome: 14 Cytoband: 14q31 |
Sum Func: | SP Function: | Gene Ontology: molecular function: catalytic activity molecular function: kinase activity biological process: signal transduction |
| Unique id : H009875_01
Name: Lysosomal-associated multispanning membrane protein-5 Chromosome: 1 Cytoband: 1p34 |
Sum Func: | SP Function: may have a special functional role during embryogenesis and in adult hematopoietic cells. binds to ubiquitin. | Gene Ontology: cellular component: integral to plasma membrane cellular component: lysosome |
| Unique id : H005489_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003633_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014369_01
Name: Ankyrin repeat domain 13 Chromosome: 12;21 Cytoband: 12q24.11 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001318_01
Name: Lymphoblastic leukemia derived sequence 1 Chromosome: 19 Cytoband: 19p13.2 |
Sum Func: | SP Function: | Gene Ontology: molecular function: DNA binding biological process: cell growth and/or maintenance cellular component: nucleus biological process: regulation of transcription, DNA-dependent |
| Unique id : H002486_01
Name: Glucokinase (hexokinase 4, maturity onset diabetes of the young 2) Chromosome: 7 Cytoband: 7p15.3-p15.1 |
Sum Func: Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), also called maturity onset diabetes of the young, type 2 (MODY2); mutations have also been associated with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). | SP Function: catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. glucokinase has a high km for glucose, and so it is effective only when glucose is abundant. the role of gck is to provide g6p for the synthesis of glycogen. pancreatic glucokinase plays an important role in modulating insulin secretion. hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage. | Gene Ontology: molecular function: ATP binding molecular function: glucokinase activity biological process: glycolysis molecular function: hexokinase activity molecular function: kinase activity molecular function: transferase activity |
| Unique id : H002290_01
Name: Acid phosphatase 5, tartrate resistant Chromosome: 19 Cytoband: 19p13.3-p13.2 |
Sum Func: Acid phosphatase 5 is an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. ACP5 is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. | SP Function: | Gene Ontology: molecular function: acid phosphatase activity molecular function: hydrolase activity cellular component: integral to membrane cellular component: lysosome |
| Unique id : H003948_01
Name: Nuclear factor (erythroid-derived 2), 45kDa Chromosome: 12 Cytoband: 12q13 |
Sum Func: | SP Function: required for activity at the locus control region (lcr) upstream of the globin gene complexes. requires p18 nf-e2 for binding to the nf-e2 motif. may play a role in all aspects of hemoglobin production: globin synthesis, heme synthesis, and the procurement of iron. | Gene Ontology: biological process: circulation biological process: development biological process: hemostasis cellular component: nucleus biological process: regulation of transcription from Pol II promoter molecular function: transcription coactivator activity molecular function: transcription factor activity |
| Unique id : H001264_01
Name: Hematopoietic cell-specific Lyn substrate 1 Chromosome: 3 Cytoband: 3q13 |
Sum Func: | SP Function: substrate of the antigen receptor-coupled tyrosine kinase. plays a role in antigen receptor signaling for both clonal expansion and deletion in lymphoid cells. directly associates with hax-1, through binding to its c-terminal region. may also be involved in the regulation of gene expression. | Gene Ontology: cellular component: DNA-directed RNA polymerase II, core complex biological process: carbon utilization by fixation of carbon dioxide biological process: intracellular signaling cascade biological process: regulation of transcription, DNA-dependent cellular component: ribulose bisphosphate carboxylase complex (sensu Magnoliophyta) molecular function: ribulose-bisphosphate carboxylase activity molecular function: transcription factor activity |
| Unique id : H006389_01
Name: Sjogren's syndrome nuclear autoantigen 1 Chromosome: 9 Cytoband: 9q34.3 |
Sum Func: | SP Function: | Gene Ontology: cellular component: nucleus |
| Unique id : H014317_01
Name: Chromosome 9 open reading frame 102 Chromosome: 9 Cytoband: 9q22.32 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002895_01
Name: Mitogen-activated protein kinase 14 Chromosome: 6 Cytoband: 6p21.3-p21.2 |
Sum Func: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. | SP Function: responds to activation by environmental stress, pro- inflammatory cytokines and lipopolysaccharide (lps) by phosphorylating a number of transcription factors, such as elk1 and atf2 and several downstream kinases, such as mapkapk2 and mapkapk5. plays a critical role in the production of some cytokines, for example il-6. may play a role in stabilization of epo mrna during hypoxic stress. isoform mxi2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates elk1 and atf2. isoform exip may play a role in the early onset of apoptosis. | Gene Ontology: molecular function: ATP binding molecular function: MAP kinase activity molecular function: MAP kinase kinase activity molecular function: MP kinase activity biological process: antimicrobial humoral response (sensu Vertebrata) biological process: cell motility biological process: cell surface receptor linked signal transduction biological process: chemotaxis cellular component: cytoplasm cellular component: nucleus biological process: protein amino acid phosphorylation biological process: protein kinase cascade molecular function: protein serine/threonine kinase activity molecular function: protein-tyrosine kinase activity biological process: response to stress molecular function: transferase activity |
| Unique id : H010436_01
Name: Clone 24587 mRNA sequence |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H005263_01
Name: Kruppel-like factor 4 (gut) Chromosome: 9 Cytoband: 9q31 |
Sum Func: | SP Function: may act as a transcriptional activator. binds the caccc core sequence. may be involved in the differentiation of epithelial cells and may also function in the development of the skeleton and kidney. | Gene Ontology: biological process: mesoderm cell fate determination biological process: negative regulation of cell proliferation biological process: negative regulation of transcription, DNA-dependent biological process: negative regulation of transcription, DNA-dependent molecular function: nucleic acid binding cellular component: nucleus molecular function: transcription factor activity molecular function: transcription factor activity molecular function: transcriptional activator activity molecular function: transcriptional activator activity molecular function: transcriptional repressor activity molecular function: transcriptional repressor activity molecular function: zinc ion binding molecular function: zinc ion binding |
| Unique id : H010717_01
Name: Chromodomain helicase DNA binding protein 5 Chromosome: 1 Cytoband: 1p36.31 |
Sum Func: | SP Function: | Gene Ontology: molecular function: ATP binding molecular function: ATP-dependent helicase activity cellular component: chromatin biological process: chromatin assembly or disassembly molecular function: chromatin binding molecular function: chromatin binding biological process: chromatin modification biological process: chromatin remodeling biological process: neurogenesis cellular component: nucleus cellular component: nucleus biological process: protein ubiquitination biological process: regulation of transcription, DNA-dependent biological process: regulation of transcription, DNA-dependent cellular component: ubiquitin ligase complex molecular function: ubiquitin-protein ligase activity molecular function: zinc ion binding |
| Unique id : H002667_01
Name: Prostaglandin E receptor 1 (subtype EP1), 42kDa Chromosome: 19 Cytoband: 19p13.1 |
Sum Func: The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. | SP Function: receptor for prostaglandin e2 (pge2). the activity of this receptor is mediated by g(q) proteins which activate a phosphatidylinositol-calcium second messenger system. may play a role as an important modulator of renal function. implicated the smooth muscle contractile response to pge2 in various tissues. | Gene Ontology: biological process: G-protein coupled receptor protein signaling pathway cellular component: integral to plasma membrane molecular function: prostaglandin E receptor activity molecular function: rhodopsin-like receptor activity |
| Unique id : H002893_01
Name: V-raf-1 murine leukemia viral oncogene homolog 1 Chromosome: 3 Cytoband: 3p25 |
Sum Func: Raf-1 is a MAP kinase kinase kinase (MAP3K) which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated Raf-1 can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2 which in turn phosphorylate to activate the serine/threonine specific protein kinases ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. [Contributed text] | SP Function: involved in the transduction of mitogenic signals from the cell membrane to the nucleus. part of the ras-dependent signaling pathway from receptors to the nucleus. | Gene Ontology: molecular function: ATP binding biological process: apoptosis biological process: cell proliferation molecular function: diacylglycerol binding biological process: intracellular signaling cascade cellular component: mitochondrial outer membrane biological process: protein amino acid phosphorylation molecular function: protein binding molecular function: protein serine/threonine kinase activity molecular function: receptor signaling protein activity molecular function: transferase activity |
| Unique id : H002148_01
Name: Interleukin 1 receptor, type II Chromosome: 2 Cytoband: 2q12-q22 |
Sum Func: The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Two alternatively spliced transcript variants encoding the same protein have been reported. | SP Function: receptor for interleukin-1 alpha (il-1a), beta (il-1b), and interleukin-1 receptor antagonist protein (il-1ra). | Gene Ontology: biological process: immune response cellular component: integral to membrane molecular function: interleukin-1, Type II, blocking receptor activity molecular function: receptor activity |
| Unique id : H012714_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H005707_01
Name: RNA binding protein with multiple splicing Chromosome: 8 Cytoband: 8p12-p11 |
Sum Func: | SP Function: may bind rna. | Gene Ontology: molecular function: RNA binding biological process: RNA processing |
| Unique id : H003139_01
Name: Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) Chromosome: 21 Cytoband: 21q22.3 |
Sum Func: The ITGB2 protein product is the integrin beta chain beta 2. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. | SP Function: integrin alpha-l/beta-2 is a receptor for icam1, icam2, icam3 and icam4. integrins alpha-m/beta-2 and alpha-x/beta-2 are receptors for the ic3b fragment of the third complement component and for fibrinogen. integrin alpha-x/beta-2 recognizes the sequence g-p-r in fibrinogen alpha-chain. integrin alpha-m/beta-2 recognizes p1 and p2 peptides of fibrinogen gamma chain. integrin alpha-m/beta-2 is also a receptor for factor x. integrin alpha- d/beta-2 is a receptor for icam3 and vcam1. | Gene Ontology: biological process: antimicrobial humoral response (sensu Vertebrata) biological process: apoptosis biological process: cell-cell signaling biological process: cell-matrix adhesion biological process: development biological process: inflammatory response cellular component: integral to membrane cellular component: integrin complex cellular component: integrin complex biological process: integrin-mediated signaling pathway biological process: integrin-mediated signaling pathway biological process: leukocyte cell adhesion biological process: neutrophil chemotaxis molecular function: protein binding molecular function: protein kinase binding molecular function: receptor activity biological process: regulation of cell shape biological process: regulation of peptidyl-tyrosine phosphorylation |
| Unique id : H000309_01
Name: CAMP responsive element binding protein 5 Chromosome: 7 Cytoband: 7p15 |
Sum Func: | SP Function: | Gene Ontology: cellular component: nucleus biological process: positive regulation of transcription, DNA-dependent molecular function: protein binding molecular function: transcription factor activity biological process: transcription from Pol II promoter molecular function: zinc ion binding |
| Unique id : H011242_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003006_01
Name: Angiotensinogen (serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 8) Chromosome: 1;19 Cytoband: 1q42-q43 |
Sum Func: The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. | SP Function: angiotensin iii stimulates aldosterone release. | Gene Ontology: biological process: cell surface receptor linked signal transduction biological process: cell-cell signaling cellular component: extracellular region molecular function: hormone activity biological process: pregnancy biological process: regulation of blood pressure molecular function: serine-type endopeptidase inhibitor activity cellular component: soluble fraction |
| Unique id : H002529_01
Name: Colony stimulating factor 3 receptor (granulocyte) Chromosome: 1 Cytoband: 1p35-p34.3 |
Sum Func: The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Four transcript variants encoding four different isoforms have been found for this gene, with three of the isoforms being membrane-bound and the other being secreted and soluble. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. | SP Function: receptor for granulocyte colony-stimulating factor. in addition it may function in some adhesion or recognition events at the cell surface. | Gene Ontology: biological process: cell adhesion biological process: defense response molecular function: hematopoietin/interferon-class (D200-domain) cytokine receptor activity cellular component: integral to plasma membrane molecular function: protein binding molecular function: receptor activity biological process: signal transduction |
| Unique id : H012506_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007226_01
Name: Aquaporin 8 Chromosome: 16 Cytoband: 16p12 |
Sum Func: Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. | SP Function: forms a water-specific channel; mercury-sensitive. not permeable to glycerol or urea. | Gene Ontology: cellular component: integral to plasma membrane biological process: transport molecular function: transporter activity molecular function: water channel activity biological process: water transport |
| Unique id : H003244_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000596_01
Name: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 Chromosome: 11 Cytoband: 11q13.4-q13.5 |
Sum Func: Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. | SP Function: part of the proton channel of v-atpases (by similarity). seems to be directly involved in t cell activation. | Gene Ontology: biological process: cellular defense response molecular function: hydrogen ion transporter activity cellular component: integral to plasma membrane cellular component: membrane biological process: positive regulation of cell proliferation biological process: proton transport biological process: proton transport molecular function: transporter activity |
| Unique id : H007053_01
Name: HRAS-like suppressor 2 Chromosome: 11 Cytoband: 11q12.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H012004_01
Name: Dehydrogenase/reductase (SDR family) member 8 Chromosome: 4;17;16;1 Cytoband: 4q22.1 |
Sum Func: | SP Function: | Gene Ontology: biological process: metabolism molecular function: oxidoreductase activity |
| Unique id : H010635_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004281_01
Name: Wiskott-Aldrich syndrome (eczema-thrombocytopenia) Chromosome: X Cytoband: Xp11.4-p11.21 |
Sum Func: The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' Utr sequence, has been described, however, its full-length nature is not known. | SP Function: possible regulator of lymphocyte and platelet function. may be involved in signaling pathways with cytoskeletal function. | Gene Ontology: cellular component: actin cytoskeleton biological process: actin polymerization and/or depolymerization biological process: blood coagulation biological process: defense response biological process: epidermis development biological process: protein complex assembly molecular function: small GTPase regulatory/interacting protein activity |
| Unique id : H003662_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H009171_01
Name: GRB2-associated binding protein 2 Chromosome: 11 Cytoband: 11q14.1 |
Sum Func: This gene is a member of the GRB2-associated binding protein (GAB) gene family and is similar to the GAB1 gene. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. | SP Function: | Gene Ontology: |
| Unique id : H013966_01
Name: Dullard homolog (Xenopus laevis) Chromosome: 17 Cytoband: 17p13 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002813_01
Name: 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) Chromosome: 10 Cytoband: 10q21-q24 |
Sum Func: The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. | SP Function: this is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. the activity of this receptor is mediated by g proteins that stimulate adenylate cyclase. | Gene Ontology: biological process: G-protein signaling, coupled to cyclic nucleotide second messenger biological process: circadian rhythm biological process: circulation cellular component: integral to plasma membrane molecular function: melanocortin receptor activity molecular function: rhodopsin-like receptor activity molecular function: serotonin receptor activity biological process: synaptic transmission |
| Unique id : H005485_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H005623_01
Name: Glutamate receptor interacting protein 2 Chromosome: 3 Cytoband: 3p24-p23 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H010898_01
Name: Ubiquilin 2 Chromosome: X Cytoband: Xp11.23-p11.1 |
Sum Func: This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. | SP Function: | Gene Ontology: |
| Unique id : H010572_01
Name: Leukocyte receptor cluster (LRC) member 4 Chromosome: 19 Cytoband: 19q13.4 |
Sum Func: | SP Function: | Gene Ontology: biological process: biological_process unknown cellular component: cellular_component unknown molecular function: molecular_function unknown |
| Unique id : H011213_01
Name: TSC-22-like Chromosome: 7 Cytoband: 7p21-p15 |
Sum Func: | SP Function: | Gene Ontology: cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity molecular function: transcriptional repressor activity |
| Unique id : H008667_01
Name: Calcineurin binding protein 1 Chromosome: 22 Cytoband: 22q11.23 |
Sum Func: Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. At least four alternatively spliced transcripts have been found for this gene, but the full-length nature of most of them has not been determined. | SP Function: it may serve as a negative regulator of t cell receptor (tcr) signaling via inhibition of calcineurin. interacts with and inhibits calcineurin-mediated signal transduction. cabin 1 is specific for the activated form of calcineurin, their interaction is dependent on both pkc and calcium signals. | Gene Ontology: biological process: cell surface receptor linked signal transduction cellular component: nucleus molecular function: protein phosphatase inhibitor activity |
| Unique id : H002878_01
Name: V-yes-1 Yamaguchi sarcoma viral related oncogene homolog Chromosome: 8 Cytoband: 8q13 |
Sum Func: | SP Function: | Gene Ontology: molecular function: ATP binding biological process: cell growth and/or maintenance biological process: intracellular signaling cascade biological process: protein amino acid phosphorylation molecular function: receptor signaling protein tyrosine kinase activity molecular function: transferase activity |
| Unique id : H013531_01
Name: Arrestin, beta 2 Chromosome: 17 Cytoband: 17p13 |
Sum Func: Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. | SP Function: regulates beta-adrenergic receptor function. beta- arrestins seem to bind phosphorylated beta-adrenergic receptors, thereby causing a significant impairment of their capacity to activate g(s) proteins. | Gene Ontology: cellular component: cytoplasm cellular component: nucleus cellular component: plasma membrane biological process: sensory perception biological process: signal transduction |
| Unique id : H007413_01
Name: Notchless gene homolog (Drosophila) Chromosome: 17 Cytoband: 17q12 |
Sum Func: | SP Function: | Gene Ontology: biological process: G-protein coupled receptor protein signaling pathway cellular component: heterotrimeric G-protein complex cellular component: nucleus molecular function: signal transducer activity |
| Unique id : H000316_01
Name: Delta sleep inducing peptide, immunoreactor Chromosome: X Cytoband: Xq22.3 |
Sum Func: The protein encoded by this gene shares significant sequence identity with the murine TSC-22 and Drosophila shs, both of which are leucine zipper proteins, that function as transcriptional regulators. The expression of this gene is stimulated by glucocorticoids and interleukin 10, and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid and chemokine. Transcript variants encoding different isoforms have been identified for this gene. | SP Function: potential coactivator of a transcription factor. | Gene Ontology: cellular component: nucleus biological process: regulation of transcription, DNA-dependent biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity molecular function: transcription factor activity |
| Unique id : H014375_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008590_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007083_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014874_01
Name: FYVE and coiled-coil domain containing 1 Chromosome: 3 Cytoband: 3p21.31 |
Sum Func: | SP Function: | Gene Ontology: biological process: intracellular protein transport cellular component: membrane molecular function: protein carrier activity molecular function: zinc ion binding |
| Unique id : H006303_01
Name: Stannin Chromosome: 16 Cytoband: 16p13 |
Sum Func: | SP Function: plays a role in the toxic effects of organotins. | Gene Ontology: cellular component: integral to membrane biological process: response to abiotic stimulus biological process: response to stress |
| Unique id : H006981_01
Name: KIAA1052 protein Chromosome: 11 Cytoband: 11q23.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H006871_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001274_01
Name: Regulator of G-protein signalling 2, 24kDa Chromosome: 1 Cytoband: 1q31 |
Sum Func: | SP Function: inhibits signal transduction by increasing the gtpase activity of g protein alpha subunits thereby driving them into their inactive gdp-bound form. may play a role in leukemogenesis. | Gene Ontology: molecular function: GTPase activator activity molecular function: calmodulin binding biological process: cell cycle biological process: regulation of G-protein coupled receptor protein signaling pathway molecular function: signal transducer activity biological process: signal transduction |
| Unique id : H007069_01
Name: DKFZP434H132 protein Chromosome: 15 Cytoband: 15q23 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H010987_01
Name: Carboxypeptidase A3 (mast cell) Chromosome: 3 Cytoband: 3q21-q25 |
Sum Func: Three different forms of human pancreatic procarboxypeptidase A have been isolated. The A3 form, is obtained as a binary complex of a procarboxypeptidase A with a proproteinase E. Mast cell carboxypeptidase A is a secretory granule metalloexopeptidase that has a pH optimum in the neutral to basic range. It resembles pancreatic carboxypeptidase A in cleaving COOH-terminal aromatic and aliphatic amino acid residues. | SP Function: | Gene Ontology: molecular function: carboxypeptidase A activity molecular function: carboxypeptidase A activity molecular function: carboxypeptidase activity molecular function: hydrolase activity molecular function: metallopeptidase activity biological process: proteolysis and peptidolysis cellular component: secretory granule |
| Unique id : H001210_01
Name: Major histocompatibility complex, class II, DR beta 4 Chromosome: 6 Cytoband: 6p21.3 |
Sum Func: HLA-DRB1 belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons, exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. | SP Function: | Gene Ontology: molecular function: MHC class II receptor activity biological process: antigen presentation, exogenous antigen biological process: antigen processing, exogenous antigen via MHC class II biological process: immune response cellular component: integral to membrane |
| Unique id : H008011_01
Name: Chromosome 16 open reading frame 7 Chromosome: 16;6 Cytoband: 16q24 |
Sum Func: | SP Function: | Gene Ontology: biological process: ATP synthesis coupled proton transport biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity molecular function: transporter activity |
| Unique id : H005596_01
Name: KIAA0657 protein Chromosome: 2 Cytoband: 2q35 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008341_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002394_01
Name: Integrin, alpha 6 Chromosome: 2 Cytoband: 2q31.1 |
Sum Func: The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. | SP Function: integrin alpha-6/beta-1 is a receptor for laminin on platelets. integrin alpha-6/beta-4 is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome. | Gene Ontology: biological process: cell-matrix adhesion biological process: cell-substrate junction assembly cellular component: integral to membrane cellular component: integrin complex biological process: integrin-mediated signaling pathway molecular function: protein binding molecular function: receptor activity |
| Unique id : H006305_01
Name: O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) Chromosome: X Cytoband: Xq13 |
Sum Func: O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains nine tetratricopeptide repeats and a putative bipartite nuclear localization signal. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. | SP Function: addition of nucleotide-activated sugars directly onto the polypeptide through O-glycosidic linkage with the hydroxyl of serine or threonine. | Gene Ontology: biological process: O-linked glycosylation molecular function: acetylglucosaminyltransferase activity cellular component: cytosol cellular component: nucleus molecular function: protein binding biological process: response to nutrients biological process: signal transduction molecular function: transferase activity molecular function: transferase activity, transferring glycosyl groups |
| Unique id : H000959_01
Name: Glycophorin C (Gerbich blood group) Chromosome: 2 Cytoband: 2q14-q21 |
Sum Func: Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. | SP Function: this protein is a minor sialoglycoprotein in human erythrocyte membranes. the blood group gerbich antigens and receptors for plasmodium falciparum merozoites are most likely located within the extracellular domain. glycophorin c plays an important role in regulating the stability of red cells. | Gene Ontology: biological process: N-linked glycosylation biological process: O-linked glycosylation cellular component: integral to plasma membrane biological process: organogenesis |
| Unique id : H003893_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000085_01
Name: Cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) Chromosome: 19 Cytoband: 19q13.1 |
Sum Func: Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. | SP Function: | Gene Ontology: molecular function: cytochrome-c oxidase activity biological process: electron transport cellular component: mitochondrion molecular function: oxidoreductase activity |
| Unique id : H011911_01
Name: SMC5 structural maintenance of chromosomes 5-like 1 (yeast) Chromosome: 9 Cytoband: 9q21.11 |
Sum Func: | SP Function: | Gene Ontology: molecular function: ATP binding biological process: chromosome segregation cellular component: nucleus |
| Unique id : H000665_01
Name: Guanylate binding protein 2, interferon-inducible Chromosome: 1 Cytoband: 1p22.2 |
Sum Func: Interferons are cytokines that have antiviral effects and inhibit tumor cell proliferation. They induce a large number of genes in their target cells, including those coding for the guanylate-binding proteins (GBPs). GBPs are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP). The protein encoded by this gene is a GTPase that converts GTP to GDP and GMP. | SP Function: binds gtp, gdp and gmp. hydrolyzes gtp very efficiently; gdp rather than gmp is the major reaction product. | Gene Ontology: molecular function: GTP binding molecular function: GTPase activity biological process: immune response |
| Unique id : H000545_01
Name: Keratin 12 (Meesmann corneal dystrophy) Chromosome: 17;1;22 Cytoband: 17q12 |
Sum Func: KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. | SP Function: may play a unique role in maintaining the normal corneal epithelial function (by similarity). | Gene Ontology: cellular component: intermediate filament molecular function: structural molecule activity biological process: visual perception |
| Unique id : H005429_01
Name: Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 Chromosome: 3;16;6;10 Cytoband: 3p21 |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. the g(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. | Gene Ontology: biological process: G-protein coupled receptor protein signaling pathway biological process: G-protein coupled receptor protein signaling pathway molecular function: GTP binding molecular function: GTPase activity biological process: negative regulation of adenylate cyclase activity biological process: response to nutrients molecular function: signal transducer activity biological process: signal transduction |
| Unique id : H007614_01
Name: Transmembrane 7 superfamily member 3 Chromosome: 12 Cytoband: 12q11-q12 |
Sum Func: | SP Function: | Gene Ontology: cellular component: integral to membrane |
| Unique id : H001658_01
Name: Chediak-Higashi syndrome 1 Chromosome: 1 Cytoband: 1q42.1-q42.2 |
Sum Func: This gene is thought to encode a protein that regulates intracellular protein trafficking to and from the lysosome. Mutations in this gene cause Chediak-Higashi syndrome, a rare lysosomal storage disorder. Alternative splicing results in two transcript variants encoding different isoforms; additional splice variants have been described but their full-length nature has not been determined. | SP Function: may be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. | Gene Ontology: biological process: cellular defense response cellular component: endosome biological process: endosome to lysosome transport cellular component: microtubule cytoskeleton biological process: protein transport biological process: signal transduction |
| Unique id : H011442_01
Name: Hypothetical protein FLJ20582 Chromosome: 15 Cytoband: 15q14 |
Sum Func: | SP Function: | Gene Ontology: molecular function: nucleic acid binding cellular component: nucleus molecular function: zinc ion binding |
| Unique id : H006226_01
Name: Protein tyrosine phosphatase, non-receptor type substrate 1 Chromosome: 20 Cytoband: 20p13 |
Sum Func: The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. | SP Function: immunoglobulin-like cell surface receptor for cd47. acts as docking protein and induces translocation of ptpn6, ptpn11 and other binding partners from the cytosol to the plasma membrane. supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment. may play a key role in intracellular signaling during synaptogenesis and in synaptic function (by similarity). involved in the negative regulation of receptor tyrosine kinase-coupled cellular responses induced by cell adhesion, growth factors or insulin. mediates negative regulation of phagocytosis, mast cell activation and dendritic cell activation. cd47 binding prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. | Gene Ontology: biological process: cell adhesion cellular component: integral to membrane cellular component: plasma membrane |
| Unique id : H002890_01
Name: Ribosomal protein S6 kinase, 90kDa, polypeptide 1 Chromosome: 1 Cytoband: 1p |
Sum Func: This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. | SP Function: phosphorylates a wide range of substrates including ribosomal protein s6. implicated in the activation of the mitogen- activated kinase cascade. | Gene Ontology: molecular function: ATP binding biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity biological process: signal transduction molecular function: transferase activity |
| Unique id : H014226_01
Name: Component of oligomeric golgi complex 8 Chromosome: 16 Cytoband: 16q22.1 |
Sum Func: Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG8 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] | SP Function: | Gene Ontology: cellular component: Golgi transport complex cellular component: membrane biological process: protein transport |
| Unique id : H003167_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016607_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004735_01
Name: Ubiquitin-like 4 Chromosome: X Cytoband: Xq28 |
Sum Func: | SP Function: | Gene Ontology: biological process: protein modification molecular function: small protein conjugating enzyme activity |
| Unique id : H002726_01
Name: B-cell CLL/lymphoma 3 Chromosome: 19 Cytoband: 19q13.1-q13.2 |
Sum Func: This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. | SP Function: could be a transcriptional activating factor. functions as a form of i-kappa-b specific for nf-kappa-b p50 subunit inhibiting its translocation to the nucleus. | Gene Ontology: biological process: cell growth and/or maintenance biological process: cytoplasmic sequestering of NF-kappaB cellular component: nucleus biological process: regulation of cell cycle biological process: regulation of transcription, DNA-dependent |
| Unique id : H001037_01
Name: Proteoglycan 1, secretory granule Chromosome: 10 Cytoband: 10q22.1 |
Sum Func: This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. | SP Function: may neutralize hydrolytic enzymes. | Gene Ontology: |
| Unique id : H008792_01
Name: Tumor necrosis factor receptor superfamily, member 21 Chromosome: 6 Cytoband: 6p21.1-12.2 |
Sum Func: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB and MAPK8/JNK, and induce cell apoptosis. Through its death domain, this receptor interacts with trADD protein, which is known to serve as an adaptor that mediates signal transduction of TNF-receptors. Knockout studies in mice suggested that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. | SP Function: may activate nf-kappa-b and jnk and promote apoptosis. | Gene Ontology: biological process: apoptosis cellular component: integral to membrane molecular function: protein binding molecular function: receptor activity biological process: signal transduction |
| Unique id : H006417_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H015544_01
Name: Hypothetical protein MGC3123 Chromosome: 17 Cytoband: 17q21.31 |
Sum Func: | SP Function: | Gene Ontology: molecular function: serine-type endopeptidase inhibitor activity |
| Unique id : H016099_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008340_01
Name: Intraflagellar transport protein IFT20 Chromosome: 17 Cytoband: 17q11.2 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002573_01
Name: PTK2B protein tyrosine kinase 2 beta Chromosome: 8 Cytoband: 8p21.1 |
Sum Func: This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. | SP Function: involved in calcium induced regulation of ion channel and activation of the map kinase signaling pathway. may represent an important signaling intermediate between neuropeptide activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. interacts with the sh2 domain of grb2. may phosphorylate the voltage-gated potassium channel protein kv1.2. its activation is highly correlated with the stimulation of c-jun n-terminal kinase activity. | Gene Ontology: molecular function: ATP binding biological process: apoptosis biological process: cell adhesion cellular component: cytoskeleton molecular function: non-membrane spanning protein tyrosine kinase activity biological process: positive regulation of cell proliferation biological process: protein amino acid phosphorylation biological process: protein complex assembly biological process: response to stress biological process: signal complex formation molecular function: signal transducer activity biological process: signal transduction molecular function: transferase activity |
| Unique id : H014089_01
Name: Chromosome 16 open reading frame 44 Chromosome: 16 Cytoband: 16q24.1 |
Sum Func: | SP Function: | Gene Ontology: molecular function: protein binding |
| Unique id : H003054_01
Name: Major histocompatibility complex, class II, DR alpha Chromosome: 6 Cytoband: 6p21.3 |
Sum Func: HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. | SP Function: | Gene Ontology: molecular function: MHC class II receptor activity biological process: antigen presentation, exogenous antigen biological process: antigen processing, exogenous antigen via MHC class II biological process: immune response cellular component: integral to plasma membrane |
| Unique id : H003233_01
Name: Biliverdin reductase A Chromosome: 7 Cytoband: 7p14-cen |
Sum Func: | SP Function: reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin ix alpha, to bilirubin with the concomitant oxidation of a nadh or nadph cofactor. | Gene Ontology: molecular function: biliverdin reductase activity biological process: electron transport molecular function: electron transporter activity molecular function: oxidoreductase activity |
| Unique id : H015435_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014702_01
Name: Hypothetical protein DKFZp564O0523 Chromosome: 7 Cytoband: 7q21.2 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002254_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H013075_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H012762_01
Name: POU domain, class 2, transcription factor 3 Chromosome: 11 Cytoband: 11q23.3 |
Sum Func: | SP Function: | Gene Ontology: cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity |
| Unique id : H016091_01
Name: NEDD9 interacting protein with calponin homology and LIM domains Chromosome: 6 Cytoband: 6q21 |
Sum Func: | SP Function: | Gene Ontology: molecular function: SH3 domain binding cellular component: cytoskeleton biological process: cytoskeleton organization and biogenesis cellular component: intermediate filament molecular function: protein binding biological process: signal transduction molecular function: zinc ion binding |
| Unique id : H009946_01
Name: Methionine sulfoxide reductase B Chromosome: 10 Cytoband: 10p12 |
Sum Func: | SP Function: | Gene Ontology: molecular function: oxidoreductase activity molecular function: transcription factor activity |
| Unique id : H003214_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H009032_01
Name: DKFZP434C171 protein Chromosome: 5 Cytoband: 5q33.1 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014439_01
Name: RAB24, member RAS oncogene family Chromosome: 5 Cytoband: 5q35.3 |
Sum Func: | SP Function: may be involved in autophagy-related processes (by similarity). | Gene Ontology: molecular function: GTP binding biological process: autophagy biological process: protein transport biological process: small GTPase mediated signal transduction |
| Unique id : H006355_01
Name: Oxysterol binding protein-like 8 Chromosome: 12 Cytoband: 12q14 |
Sum Func: This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. | SP Function: | Gene Ontology: biological process: lipid transport biological process: steroid metabolism |
| Unique id : H012112_01
Name: Zinc finger protein 36 (KOX 18) Chromosome: 7 Cytoband: 7q21.3-q22.1 |
Sum Func: | SP Function: may be involved in transcriptional regulation. | Gene Ontology: cellular component: nucleus cellular component: nucleus biological process: regulation of transcription, DNA-dependent biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity molecular function: transcription factor activity molecular function: zinc ion binding |
| Unique id : H007392_01
Name: ADP-ribosylation factor 5 Chromosome: 7 Cytoband: 7q31.3 |
Sum Func: ADP-ribosylation factor 5 (ARF5) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. The ARF5 gene spans approximately 3.2kb of genomic DNA and contains six exons and five introns. | SP Function: | Gene Ontology: molecular function: GTP binding molecular function: GTPase activity cellular component: Golgi apparatus biological process: intracellular protein transport biological process: small GTPase mediated signal transduction |
| Unique id : H011715_01
Name: Plexin B2 Chromosome: 22 Cytoband: 22q13.33 |
Sum Func: | SP Function: | Gene Ontology: biological process: biological_process unknown cellular component: cellular_component unknown molecular function: molecular_function unknown |
| Unique id : H011499_01
Name: Homeo box C9 Chromosome: 12 Cytoband: 12q13.3 |
Sum Func: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The exact role of this gene has not been determined. | SP Function: sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. | Gene Ontology: biological process: development cellular component: nucleus biological process: regulation of transcription, DNA-dependent biological process: transcription molecular function: transcription factor activity molecular function: transcriptional activator activity |
| Unique id : H007590_01
Name: Immunoglobulin E heavy chain VH251 (VH5) |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002377_01
Name: Tachykinin receptor 1 Chromosome: 2 Cytoband: 2p12 |
Sum Func: This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. This receptor is also involved in the mediation of phosphatidylinositol metabolism of substance P. | SP Function: this is a receptor for the tachykinin neuropeptide substance p. it is probably associated with g proteins that activate a phosphatidylinositol-calcium second messenger system. | Gene Ontology: biological process: G-protein coupled receptor protein signaling pathway biological process: G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) biological process: detection of abiotic stimulus biological process: inflammatory response cellular component: integral to membrane cellular component: integral to plasma membrane biological process: mechanosensory behavior cellular component: plasma membrane molecular function: rhodopsin-like receptor activity molecular function: tachykinin receptor activity molecular function: tachykinin receptor activity biological process: tachykinin signaling pathway |
| Unique id : H011751_01
Name: Chondroitin sulfate proteoglycan 6 (bamacan) Chromosome: 10;9 Cytoband: 10q25 |
Sum Func: Proteoglycans are specialized glycoproteins with heterogeneous structures that are found in all connective tissues and on cell surfaces. CSPG6, or bamacan (BAM), which was originally isolated from embryonic parietal yolk sac, is an abundant secreted chondroitin sulfate proteoglycan in basement membranes and an intracellular protein that has been referred to as SMC3. See SCC1 (MIM 606462) and Sumara et al. (2000) [PubMed 11076961] for information on the role of SMC3 in cohesin association with and dissociation from chromosomes.[supplied by OMIM] | SP Function: | Gene Ontology: molecular function: ATP binding molecular function: ATPase activity biological process: DNA repair biological process: cell cycle biological process: chromosome segregation cellular component: cohesin complex cellular component: cytoplasm molecular function: dynein binding biological process: meiosis molecular function: microtubule motor activity biological process: mitotic spindle organization and biogenesis cellular component: nuclear matrix molecular function: protein heterodimerization activity biological process: signal transduction biological process: sister chromatid cohesion cellular component: spindle pole |
| Unique id : H002197_01
Name: Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) Chromosome: 10 Cytoband: 10q26 |
Sum Func: The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with many craniosynostotic syndromes and bone malformations. The genomic organization of this gene encompasses 20 exons. Alternative splicing in multiple exons, including those encoding the Ig-like domains, the transmembrane region and the carboxyl terminus, results in varied isoforms which differ in structure and specificity. | SP Function: receptor for acidic and basic fibroblast growth factors. | Gene Ontology: molecular function: ATP binding molecular function: fibroblast growth factor receptor activity cellular component: integral to membrane biological process: protein amino acid phosphorylation biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: protein-tyrosine kinase activity molecular function: protein-tyrosine kinase activity molecular function: receptor activity molecular function: transferase activity |
| Unique id : H004753_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000474_01
Name: Testis-specific kinase 1 Chromosome: 9 Cytoband: 9p13 |
Sum Func: This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. | SP Function: dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. probably plays a central role at and after the meiotic phase of spermatogenesis (by similarity). | Gene Ontology: molecular function: ATP binding molecular function: magnesium ion binding molecular function: manganese ion binding biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: protein-tyrosine kinase activity biological process: spermatogenesis molecular function: transferase activity |
| Unique id : H015210_01
Name: CDK5 regulatory subunit associated protein 1-like 1 Chromosome: 6 Cytoband: 6p22.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: catalytic activity molecular function: iron ion binding |
| Unique id : H004439_01
Name: Ig lambda chain V-region (VL-AIG) |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016059_01
Name: Caspase 4, apoptosis-related cysteine protease Chromosome: 11 Cytoband: 11q22.2-q22.3 |
Sum Func: This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own, as well as caspase 1, precursor proteins. When overexpressed, this gene has been shown to induce cell apoptosis. Alternative splicing results in 3 transcript variants encoding distinct isoforms. | SP Function: involved in the activation cascade of caspases responsible for apoptosis execution. cleaves caspase-1. | Gene Ontology: molecular function: caspase activity molecular function: caspase activity molecular function: cysteine-type peptidase activity cellular component: cytoplasm molecular function: hydrolase activity biological process: induction of apoptosis cellular component: intracellular molecular function: protein binding biological process: proteolysis and peptidolysis biological process: proteolysis and peptidolysis biological process: regulation of apoptosis |
| Unique id : H007126_01
Name: Mouse Mammary Turmor Virus Receptor homolog 1 Chromosome: 11 Cytoband: 11q23 |
Sum Func: | SP Function: | Gene Ontology: molecular function: receptor activity |
| Unique id : H016313_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014990_01
Name: Triggering receptor expressed on myeloid cells 1 Chromosome: 6 Cytoband: 6p21.1 |
Sum Func: | SP Function: | Gene Ontology: biological process: humoral immune response cellular component: integral to membrane biological process: intracellular signaling cascade cellular component: plasma membrane molecular function: receptor activity |
| Unique id : H004862_01
Name: Chromosome X open reading frame 37 Chromosome: X Cytoband: Xp11.23 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id: H013307_01
Name: Jumonji domain containing 2C |
Sum Func: | SP Function: | Gene Ontology: molecular function: DNA binding cellular component: cellular_component unknown biological process: regulation of transcription, DNA-dependent |
| Unique id : H007704_01
Name: Myosin IF |
Sum Func: | SP Function: myosins are actin-based motor molecules with atpase activity. unconventional myosins serve in intracellular movements. their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (by similarity). | Gene Ontology: molecular function: ATP binding molecular function: ATP binding molecular function: actin binding biological process: biological_process unknown molecular function: calmodulin binding molecular function: microfilament motor activity molecular function: motor activity cellular component: unconventional myosin |
| Unique id : H015935_01
Name: Retinoblastoma-associated factor 600 Chromosome: 1 Cytoband: 1p36.13 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008666_01
Name: Tumor necrosis factor, alpha-induced protein 2 Chromosome: 14 Cytoband: 14q32 |
Sum Func: This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. | SP Function: may play a role as a mediator of inflammation and angiogenesis. | Gene Ontology: biological process: angiogenesis cellular component: extracellular space |
| Unique id : H015802_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H011226_01
Name: Chromosome 22 open reading frame 4 Chromosome: 22 Cytoband: 22q13.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H010500_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014883_01
Name: Solute carrier family 8 (sodium/calcium exchanger), member 1 Chromosome: 2 Cytoband: 2p23-p22 |
Sum Func: In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM] | SP Function: rapidly transports ca(2+) during excitation-contraction coupling. ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores. | Gene Ontology: molecular function: antiporter activity biological process: calcium ion transport molecular function: calcium ion transporter activity molecular function: calcium:sodium antiporter activity molecular function: calmodulin binding biological process: cell communication cellular component: integral to plasma membrane biological process: muscle contraction biological process: sodium ion transport molecular function: sodium ion transporter activity biological process: transport |
| Unique id : H004787_01
Name: MYST histone acetyltransferase 1 Chromosome: 16 Cytoband: 16p11.2 |
Sum Func: | SP Function: | Gene Ontology: cellular component: chromatin biological process: chromatin assembly or disassembly molecular function: chromatin binding cellular component: nucleus molecular function: transferase activity |
| Unique id : H002921_01
Name: CD33 antigen (gp67) Chromosome: 19 Cytoband: 19q13.3 |
Sum Func: | SP Function: putative adhesion molecule of myelomonocytic-derived cells that mediates sialic-acid dependent binding to cells. preferentially binds to alpha2,6-linked sialic acid. the sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. in the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their sh2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. induces apoptosis in acute myeloid leukemia (in vitro). | Gene Ontology: biological process: cell adhesion biological process: cell-cell signaling cellular component: integral to plasma membrane biological process: negative regulation of cell proliferation molecular function: protein binding molecular function: receptor activity biological process: signal transduction molecular function: sugar binding |
| Unique id : H004911_01
Name: LATS, large tumor suppressor, homolog 2 (Drosophila) Chromosome: 13;9 Cytoband: 13q11-q12 |
Sum Func: | SP Function: | Gene Ontology: molecular function: ATP binding biological process: G1/S transition of mitotic cell cycle biological process: cell cycle biological process: cytokinesis biological process: hormone-mediated signaling molecular function: magnesium ion binding biological process: mitosis biological process: negative regulation of cyclin dependent protein kinase activity biological process: protein amino acid phosphorylation biological process: protein kinase cascade molecular function: protein serine/threonine kinase activity cellular component: spindle pole molecular function: transferase activity |
| Unique id : H001282_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008542_01
Name: Hypothetical protein FLJ10637 Chromosome: 12 Cytoband: 12p11.23 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H006046_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H011435_01
Name: Guanine nucleotide binding protein (G protein), gamma 5 Chromosome: 1 Cytoband: 1p22 |
Sum Func: | SP Function: | Gene Ontology: biological process: G-protein coupled receptor protein signaling pathway cellular component: heterotrimeric G-protein complex molecular function: signal transducer activity |
| Unique id : H003466_01
Name: CD68 antigen Chromosome: 17 Cytoband: 17p13 |
Sum Func: CD68 is a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a type I integral membrane protein with a heavily glycosylated extracellular domain. | SP Function: could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. bind to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. rapid recirculation of cd68 from endosomes, lysosomes to the plasma membrane may allow macrophages to crawl over selectin bearing substrates or other cells. | Gene Ontology: cellular component: integral to membrane cellular component: lysosome cellular component: membrane fraction |
| Unique id : H014785_01
Name: Dipeptidyl peptidase 9 Chromosome: 19 Cytoband: 19p13.3 |
Sum Func: This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. | SP Function: | Gene Ontology: molecular function: catalytic activity molecular function: dipeptidyl-peptidase IV activity cellular component: membrane biological process: proteolysis and peptidolysis |
| Unique id : H000649_01
Name: Proline-rich nuclear receptor coactivator 1 Chromosome: 6 Cytoband: 6q15 |
Sum Func: | SP Function: | Gene Ontology: cellular component: nucleus molecular function: protein binding |
| Unique id : H014431_01
Name: Sideroflexin 1 Chromosome: 5 |
Sum Func: | SP Function: might be involved in the transport of a component required for iron utilization into or out of the mitochondria. | Gene Ontology: biological process: cation transport molecular function: cation transporter activity cellular component: integral to membrane biological process: iron ion transport cellular component: mitochondrion biological process: transport |
| Unique id : H003853_01
Name: Activin A receptor, type IB Chromosome: 12 Cytoband: 12q13 |
Sum Func: Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling, and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type IB receptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed. | SP Function: | Gene Ontology: molecular function: ATP binding cellular component: integral to plasma membrane biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: receptor activity molecular function: transferase activity molecular function: transforming growth factor beta receptor activity biological process: transmembrane receptor protein serine/threonine kinase signaling pathway |
| Unique id : H012186_01
Name: Brevican Chromosome: 1 Cytoband: 1q31 |
Sum Func: | SP Function: | Gene Ontology: biological process: cell adhesion molecular function: hyaluronic acid binding molecular function: sugar binding |
| Unique id : H000370_01
Name: Transcription factor binding to IGHM enhancer 3 Chromosome: X Cytoband: Xp11.22 |
Sum Func: | SP Function: positive-acting transcription factor that binds to the immunoglobulin enhancer mue3 motif. it binds also very well to a usf/mltf site. binding of tfe3 to dna induces dna binding. | Gene Ontology: molecular function: ATP binding molecular function: catalytic activity biological process: cell growth and/or maintenance cellular component: nucleus biological process: regulation of transcription, DNA-dependent biological process: tRNA aminoacylation for protein translation molecular function: tRNA ligase activity molecular function: transcription factor activity biological process: transcription from Pol II promoter |
| Unique id : H007899_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H005556_01
Name: Mitochondrial solute carrier protein Chromosome: 8 Cytoband: 8p21.2 |
Sum Func: | SP Function: | Gene Ontology: molecular function: binding cellular component: integral to membrane biological process: transport |
| Unique id : H004053_01
Name: Neuromedin U receptor 1 Chromosome: 2 Cytoband: 2q37.1 |
Sum Func: | SP Function: | Gene Ontology: biological process: calcium ion transport biological process: calcium-mediated signaling biological process: chloride transport biological process: inositol phosphate-mediated signaling cellular component: integral to membrane cellular component: membrane fraction molecular function: neuromedin U receptor activity biological process: neuropeptide signaling pathway biological process: phospholipase C activation molecular function: receptor activity molecular function: rhodopsin-like receptor activity biological process: secretory pathway biological process: smooth muscle contraction biological process: transmission of nerve impulse |
| Unique id : H015863_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002296_01
Name: RAB5B, member RAS oncogene family Chromosome: 12 Cytoband: 12q13 |
Sum Func: | SP Function: | Gene Ontology: molecular function: GTP binding molecular function: GTP-dependent protein binding cellular component: endosome biological process: intracellular protein transport biological process: small GTPase mediated signal transduction |
| Unique id : H003256_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008245_01
Name: Zinc finger protein 221 Chromosome: 19 Cytoband: 19q13.2 |
Sum Func: | SP Function: | Gene Ontology: molecular function: DNA binding cellular component: nucleus biological process: regulation of transcription, DNA-dependent |
| Unique id : H015605_01
Name: Transmembrane protein 8 (five membrane-spanning domains) Chromosome: 16;22 Cytoband: 16p13.3 |
Sum Func: | SP Function: | Gene Ontology: biological process: cell adhesion cellular component: integral to plasma membrane molecular function: protein binding |
| Unique id : H012363_01
Name: Sorting nexin 11 Chromosome: 17 Cytoband: 17q21.32 |
Sum Func: This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' Utr, but encoding the same protein. | SP Function: may be involved in several stages of intracellular trafficking (by similarity). | Gene Ontology: biological process: intracellular signaling cascade biological process: protein transport |
| Unique id : H012009_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000731_01
Name: Similar to MGC52679 protein Chromosome: 22 Cytoband: 22q13.33 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008293_01
Name: Williams-Beuren syndrome chromosome region 5 Chromosome: 7 Cytoband: 7q11.23 |
Sum Func: This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 4 transcript variants which encode 2 isoforms with different sizes. The function of this gene is not known. | SP Function: | Gene Ontology: biological process: biological_process unknown cellular component: cellular_component unknown molecular function: molecular_function unknown |
| Unique id : H008778_01
Name: Toll-like receptor 5 Chromosome: 1 Cytoband: 1q41-q42 |
Sum Func: The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene product is expressed in myelomonocytic cells, and recognizes bacterial flagellin, a principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB and stimulates tumour necrosis factor-alpha production. | SP Function: participates in the innate immune response to microbial agents. mediates detection of bacterial flagellins. acts via myd88 and traf6, leading to nf-kappa-b activation, cytokine secretion and the inflammatory response. | Gene Ontology: biological process: immune response biological process: inflammatory response cellular component: integral to membrane molecular function: transmembrane receptor activity |
| Unique id : H003649_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003049_01
Name: Integrin, alpha X (antigen CD11C (p150), alpha polypeptide) Chromosome: 16 Cytoband: 16p11.2 |
Sum Func: This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. | SP Function: integrin alpha-x/beta-2 is a receptor for fibrinogen. it recognizes the sequence g-p-r in fibrinogen. it mediates cell-cell interaction during inflammatory responses. it is especially important in monocyte adhesion and chemotaxis. | Gene Ontology: biological process: cell-matrix adhesion cellular component: integral to membrane cellular component: integrin complex biological process: integrin-mediated signaling pathway molecular function: magnesium ion binding biological process: organogenesis molecular function: protein binding molecular function: receptor activity |
| Unique id : H014561_01
Name: Hypothetical protein FLJ12949 Chromosome: 19 Cytoband: 19p13.2 |
Sum Func: This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. Two transcript variants that encode different isoforms were identified through sequence analysis. | SP Function: | Gene Ontology: |
| Unique id : H016508_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000814_01
Name: Sulfotransferase family 1E, estrogen-preferring, member 1 Chromosome: 4 Cytoband: 4q13.1 |
Sum Func: Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. | SP Function: | Gene Ontology: molecular function: estrone sulfotransferase activity molecular function: steroid binding biological process: steroid metabolism molecular function: transferase activity |
| Unique id : H002398_01
Name: CD22 antigen Chromosome: 19 Cytoband: 19q13.1 |
Sum Func: | SP Function: mediates b-cell b-cell interactions. may be involved in the localization of b-cells in lymphoid tissues. binds sialylated glycoproteins; one of which is cd45. preferentially binds to alpha2,6-linked sialic acid. the sialic acid recognition site can be masked by cis interactions with sialic acids on the same cell surface. upon ligand induced tyrosine phosphorylation in the immune response seems to be involved in regulation of b cell antigen receptor signaling. plays a role in positive regulation through interaction with src family tyrosine kinases and may also act as an inhibitory receptor by recruiting cytoplasmic phosphatases via their sh2 domains that block signal transduction through dephosphorylation of signaling molecules. | Gene Ontology: biological process: antimicrobial humoral response (sensu Vertebrata) biological process: cell adhesion cellular component: integral to plasma membrane molecular function: protein binding molecular function: sugar binding |
| Unique id : H011523_01
Name: Rho GTPase activating protein 18 Chromosome: 6 Cytoband: 6q22.33 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H013956_01
Name: Kruppel-like factor 1 (erythroid) Chromosome: 19 Cytoband: 19p13.13-p13.12 |
Sum Func: | SP Function: binds to the caccc box in the beta-globin gene promoter and activates transcription. probably serves as a general switch factor for erythroid development. | Gene Ontology: cellular component: nucleus biological process: organogenesis biological process: regulation of transcription, DNA-dependent molecular function: transcription coactivator activity molecular function: transcription factor activity biological process: transcription from Pol II promoter molecular function: zinc ion binding |
| Unique id : H007179_01
Name: Chromosome 11 open reading frame 9 Chromosome: 11 Cytoband: 11q12-q13.1 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014142_01
Name: Solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Chromosome: 20 Cytoband: 20p13 |
Sum Func: | SP Function: | Gene Ontology: molecular function: antiporter activity biological process: calcium ion transport cellular component: integral to membrane biological process: potassium ion transport biological process: sodium ion transport molecular function: symporter activity biological process: transport |
| Unique id : H007602_01
Name: Proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 Chromosome: 11 Cytoband: 11p15.5 |
Sum Func: The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. | SP Function: | Gene Ontology: cellular component: cytosol |
| Unique id : H002494_01
Name: Adrenergic, alpha-1B-, receptor Chromosome: 5 Cytoband: 5q23-q32 |
Sum Func: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. | SP Function: this alpha-adrenergic receptor mediates its action by association with g proteins that activate a phosphatidylinositol- calcium second messenger system. | Gene Ontology: biological process: G-protein coupled receptor protein signaling pathway biological process: G-protein signaling, coupled to cAMP nucleotide second messenger molecular function: adrenoceptor activity molecular function: alpha1-adrenergic receptor activity biological process: cell proliferation biological process: cell-cell signaling biological process: development cellular component: integral to plasma membrane biological process: protein kinase cascade molecular function: rhodopsin-like receptor activity |
| Unique id : H004478_01
Name: Potassium channel tetramerisation domain containing 5 Chromosome: 16;4;11 Cytoband: 16p13.3 |
Sum Func: | SP Function: | Gene Ontology: cellular component: membrane biological process: potassium ion transport molecular function: protein binding molecular function: voltage-gated potassium channel activity cellular component: voltage-gated potassium channel complex |
| Unique id : H006143_01
Name: UDP-Gal:beta GlcNAc beta 1,3-galactosyltransferase, polypeptide 4 Chromosome: 6 Cytoband: 6p21.3 |
Sum Func: This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglio-series glycolipid biosynthesis. | SP Function: involved in gm1/gd1b/ga1 ganglioside biosynthesis. | Gene Ontology: cellular component: Golgi apparatus molecular function: UDP-galactose beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity molecular function: galactosyltransferase activity molecular function: ganglioside galactosyltransferase activity cellular component: integral to membrane biological process: protein amino acid glycosylation molecular function: transferase activity, transferring glycosyl groups |
| Unique id : H011204_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004794_01
Name: DKFZP586A0522 protein Chromosome: 12;X Cytoband: 12q13.12 |
Sum Func: | SP Function: | Gene Ontology: molecular function: S-adenosylmethionine-dependent methyltransferase activity |
| Unique id : H010994_01
Name: Hypothetical gene supported by AF131741 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H006183_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014855_01
Name: Potassium channel, subfamily K, member 12 Chromosome: 2 Cytoband: 2p22-p21 |
Sum Func: This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. | SP Function: | Gene Ontology: cellular component: integral to membrane biological process: ion transport molecular function: potassium channel activity biological process: potassium ion transport molecular function: voltage-gated ion channel activity |
| Unique id : H005994_01
Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 Chromosome: 8;17;11;20 Cytoband: 8p22-p21 |
Sum Func: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. A pseudogene has been found for this gene. | SP Function: non catalytic subunit of the peripheral v1 complex of vacuolar atpase. v-atpase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. | Gene Ontology: molecular function: ATP binding biological process: ATP synthesis coupled proton transport cellular component: cytoplasm biological process: energy coupled proton transport, against electrochemical gradient molecular function: hydrogen-exporting ATPase activity, phosphorylative mechanism molecular function: hydrogen-transporting ATP synthase activity, rotational mechanism molecular function: hydrogen-transporting ATPase activity, rotational mechanism molecular function: hydrolase activity cellular component: proton-transporting two-sector ATPase complex |
| Unique id : H013574_01
Name: NEDD9 interacting protein with calponin homology and LIM domains Chromosome: 6 Cytoband: 6q21 |
Sum Func: | SP Function: | Gene Ontology: molecular function: SH3 domain binding cellular component: cytoskeleton biological process: cytoskeleton organization and biogenesis cellular component: intermediate filament molecular function: protein binding biological process: signal transduction molecular function: zinc ion binding |
| Unique id : H014637_01
Name: Chromosome 6 open reading frame 29 Chromosome: 6 Cytoband: 6p21.3 |
Sum Func: | SP Function: catalyzes the removal of sialic acid (n-acetylneuraminic acid) moieties from glycoproteins and glycolipids. to be active, it is strictly dependent on its presence in the multienzyme complex. appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. | Gene Ontology: |
| Unique id : H004621_01
Name: Ig lambda chain V-region (VL-HUC) |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H010910_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003592_01
Name: Interferon-stimulated transcription factor 3, gamma 48kDa Chromosome: 14 Cytoband: 14q11.2 |
Sum Func: | SP Function: responsible for the initial stimulation of ifn-alpha- responsive genes. it recognizes and binds to the ifn-stimulated response element, or isre within the regulatory sequences of target genes. isgf3 plays a primary role in the transmission of a signal from the cell surface to the nucleus. | Gene Ontology: biological process: cell surface receptor linked signal transduction cellular component: cytoplasm biological process: immune response cellular component: nucleus biological process: protein ubiquitination biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity biological process: transcription from Pol II promoter cellular component: ubiquitin ligase complex molecular function: ubiquitin-protein ligase activity molecular function: zinc ion binding |
| Unique id : H003493_01
Name: MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B) Chromosome: 19 Cytoband: 19p12 |
Sum Func: | SP Function: transcription factor which binds specifically to the mef2 element present in the regulatory regions of many muscle- specific genes. activates transcription via this element. may be involved in muscle-specific and/or growth factor-related transcription. | Gene Ontology: biological process: muscle development cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription coactivator activity molecular function: transcription factor activity biological process: transcription from Pol II promoter |
| Unique id : H014172_01
Name: Hypothetical protein FLJ12604 Chromosome: 3 Cytoband: 3q24-q25 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002041_01
Name: Protein kinase, cAMP-dependent, catalytic, alpha Chromosome: 19 Cytoband: 19p13.1 |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. | SP Function: phosphorylates a large number of substrates in the cytoplasm and the nucleus. | Gene Ontology: molecular function: ATP binding molecular function: cAMP-dependent protein kinase activity cellular component: cAMP-dependent protein kinase complex cellular component: nucleus biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: transferase activity |
| Unique id : H000815_01
Name: Nuclear receptor coactivator 4 Chromosome: 10 Cytoband: 10q11.2 |
Sum Func: | SP Function: enhances the androgen receptor transcriptional activity in prostate cancer cells. ligand-independent coactivator of the peroxisome proliferator-activated receptor (ppar) gamma. | Gene Ontology: biological process: cell growth and/or maintenance biological process: male gonad development cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription coactivator activity |
| Unique id : H005977_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016361_01
Name: Galactose-3-O-sulfotransferase 4 Chromosome: 7 Cytoband: 7q22 |
Sum Func: Sulfation is one of the most extensive modifications for glycan chains in glycoconjugates. GAL3ST4 belongs to a family of sulfotransferases that catalyze the C3 sulfation of galactose in O-linked glycoproteins.[supplied by OMIM] | SP Function: | Gene Ontology: molecular function: 3'-phosphoadenosine 5'-phosphosulfate binding cellular component: Golgi apparatus biological process: biosynthesis biological process: cell-cell signaling molecular function: galactosylceramide sulfotransferase activity biological process: glycoprotein metabolism cellular component: integral to membrane cellular component: membrane fraction biological process: oligosaccharide metabolism biological process: proteoglycan biosynthesis molecular function: proteoglycan sulfotransferase activity biological process: sulfur metabolism molecular function: transferase activity |
| Unique id : H015098_01
Name: Lysophospholipase II Chromosome: 1;6 Cytoband: 1p36.12-p35.1 |
Sum Func: Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. | SP Function: | Gene Ontology: biological process: fatty acid metabolism molecular function: hydrolase activity |
| Unique id : H006222_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014641_01
Name: Zinc finger, FYVE domain containing 1 Chromosome: 14 Cytoband: 14q22-q24 |
Sum Func: The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. This gene encodes a protein which contains two zinc-binding FYVE domains in tandem. This protein displays a predominantly Golgi, endoplasmic reticulum and vesicular distribution. Alternatively spliced transcript variants have been found for this gene, and they encode two isoforms with different sizes. | SP Function: | Gene Ontology: cellular component: Golgi stack cellular component: endoplasmic reticulum cellular component: perinuclear region molecular function: phosphatidylinositol binding biological process: vesicle-mediated transport molecular function: zinc ion binding |
| Unique id : H008723_01
Name: Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 Chromosome: 19 Cytoband: 19q13.4 |
Sum Func: | SP Function: | Gene Ontology: biological process: immune response cellular component: integral to membrane molecular function: receptor activity |
| Unique id : H013131_01
Name: Hypothetical protein F23149_1 Chromosome: 19 Cytoband: 19q13.1 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002767_01
Name: Glutathione S-transferase omega 1 Chromosome: 10 Cytoband: 10q25.1 |
Sum Func: This gene encodes a member of the theta class glutathione S-transferase-like (GSTTL) protein family. In mouse, the encoded protein acts as a small stress response protein, likely involved in cellular redox homeostasis. | SP Function: | Gene Ontology: cellular component: cytoplasm molecular function: glutathione transferase activity biological process: metabolism molecular function: monodehydroascorbate reductase (NADH) activity molecular function: transferase activity |
| Unique id : H013641_01
Name: KIAA1257 protein Chromosome: 3 Cytoband: 3q21.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003363_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008949_01
Name: Proapoptotic caspase adaptor protein Chromosome: 5 Cytoband: 5q23-5q31 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014107_01
Name: LAG1 longevity assurance homolog 4 (S. cerevisiae) Chromosome: 19 Cytoband: 19p13.2 |
Sum Func: | SP Function: | Gene Ontology: cellular component: endoplasmic reticulum cellular component: integral to membrane biological process: lipid biosynthesis cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity |
| Unique id : H015830_01
Name: Zinc finger, A20 domain containing 3 Chromosome: 15 Cytoband: 15q25.1 |
Sum Func: | SP Function: | Gene Ontology: molecular function: DNA binding biological process: biological_process unknown cellular component: cellular_component unknown molecular function: zinc ion binding |
| Unique id : H016198_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002623_01
Name: Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) Chromosome: 1 Cytoband: 1q32 |
Sum Func: The human MDM4 gene, which plays a role in apoptosis, encodes a 490-amino acid protein containing a RING finger domain and a putative nuclear localization signal. The MDM4 putative nuclear localization signal, which all Mdm proteins contain, is located in the C-terminal region of the protein. The mRNA is expressed at a high level in thymus and at lower levels in all other tissues tested. MDM4 protein produced by in vitro translation interacts with p53 via a binding domain located in the N-terminal region of the MDM4 protein. MDM4 shows significant structural similarity to p53-binding protein MDM2 | SP Function: inhibits p53- and p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. inhibits degradation of mdm2. can reverse mdm2-targeted degradation of p53 while maintaining suppression of p53 transactivation and apoptotic functions. | Gene Ontology: biological process: G0 to G1 transition biological process: apoptosis biological process: cell proliferation biological process: negative regulation of cell proliferation biological process: negative regulation of protein catabolism biological process: negative regulation of transcription from Pol II promoter cellular component: nucleus molecular function: protein binding biological process: protein complex assembly biological process: protein stabilization biological process: protein ubiquitination cellular component: ubiquitin ligase complex molecular function: ubiquitin-protein ligase activity molecular function: zinc ion binding |
| Unique id : H004971_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001322_01
Name: Hypothetical protein LOC284019 Chromosome: 17 Cytoband: 17q24.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004269_01
Name: RNA (guanine-9-) methyltransferase domain containing 2 Chromosome: 4 Cytoband: 4q23 |
Sum Func: | SP Function: | Gene Ontology: molecular function: methyltransferase activity molecular function: transferase activity |
| Unique id : H015418_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002847_01
Name: Protein tyrosine phosphatase, receptor type, B Chromosome: 12 Cytoband: 12q15-q21 |
Sum Func: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. | SP Function: | Gene Ontology: molecular function: hydrolase activity cellular component: integral to plasma membrane cellular component: membrane fraction biological process: phosphate metabolism biological process: protein amino acid dephosphorylation molecular function: transmembrane receptor protein tyrosine phosphatase activity |
| Unique id : H002438_01
Name: MAP/microtubule affinity-regulating kinase 2 Chromosome: 11 Cytoband: 11q12-q13 |
Sum Func: EMK (ELKL Motif Kinase) is a small family of ser/thr protein kinases involved in the control of cell polarity, microtubule stability and cancer. Several cDNA clones have been isolated that encoded two isoforms of the human ser/thr protein kinase EMK1. These isoforms were characterized by the presence of a 162-bp alternative exon that gave rise to two forms, one containing the exon and the other one lacking it. Both forms were found to be coexpressed in a number of selected cell lines and tissue samples. The human EMK1 was shown to be encoded by a single mRNA ubiquitously expressed. | SP Function: | Gene Ontology: molecular function: ATP binding biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: protein-tyrosine kinase activity molecular function: transferase activity |
| Unique id : H009697_01
Name: Kelch-like 8 (Drosophila) Chromosome: 4 Cytoband: 4q22.1 |
Sum Func: | SP Function: | Gene Ontology: molecular function: protein binding |
| Unique id : H005557_01
Name: CGI-04 protein Chromosome: 12 Cytoband: 12p11.21 |
Sum Func: | SP Function: | Gene Ontology: molecular function: ATP binding molecular function: ligase activity cellular component: mitochondrion biological process: protein biosynthesis molecular function: tyrosine-tRNA ligase activity biological process: tyrosyl-tRNA aminoacylation |
| Unique id : H008743_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002243_01
Name: Ras homolog gene family, member E Chromosome: 2 Cytoband: 2q23.3 |
Sum Func: Members of the Rho family of Ras-related GTPases, such as ARHE, regulate the organization of the actin cytoskeleton in response to extracellular growth factors. Like Ras (MIM 190020), Rho family members appear to cycle between an inactive GDP-bound form and an active GTP-bound form. Three major regulators of Rho activity have been identified: RhoGDIs, which interact with the GDP-bound Rho proteins to keep them in a resting complex (see MIM 601925); GEFs, which promote GDP/GTP exchange leading to activation of Rho proteins (see MIM 601855); and GAPs, which stimulate GTP hydrolysis and return the activated Rho protein to its inactive form (see MIM 602680) (Nobes et al., 1998 [PubMed 9531558]).[supplied by OMIM] | SP Function: | Gene Ontology: molecular function: GTP binding cellular component: Golgi apparatus biological process: protein transport biological process: small GTPase mediated signal transduction |
| Unique id : H011139_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H011567_01
Name: KIAA0082 Chromosome: 6 Cytoband: 6p21.2 |
Sum Func: | SP Function: | Gene Ontology: cellular component: intracellular molecular function: nucleic acid binding |
| Unique id : H004147_01
Name: LUC7-like (S. cerevisiae) Chromosome: 16;8;5 Cytoband: 16p13.3 |
Sum Func: The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM] | SP Function: | Gene Ontology: |
| Unique id : H001819_01
Name: Ubiquitin specific protease 10 Chromosome: 16 Cytoband: 16q24.1 |
Sum Func: | SP Function: ubiquitin specific protease are required to remove ubiquitin from specific proteins or peptides to which ubiquitin is attached. | Gene Ontology: |
| Unique id : H004742_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002326_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016286_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007647_01
Name: Zinc finger protein 608 Chromosome: 5 Cytoband: 5q23.2 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H010126_01
Name: Eyes absent homolog 2 (Drosophila) Chromosome: 20 Cytoband: 20q13.1 |
Sum Func: This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Five transcript variants encoding three distinct isoforms have been identified for this gene. | SP Function: thought to play a role in transcription regulation during organogenesis through its intrinsic protein phosphatase activity. coactivates six1. seems to coactivate six2, six4 and six5 (by similarity). together with six1 and dach2 seem to be involved in myogenesis (by similarity). may be involved in development of the eye. interaction with gnaz and gnai2 prevents nuclear translocation and transcriptional activity. | Gene Ontology: biological process: development biological process: eye morphogenesis (sensu Mammalia) molecular function: hydrolase activity molecular function: magnesium ion binding biological process: mesoderm cell fate specification biological process: metabolism cellular component: nucleus molecular function: protein tyrosine phosphatase activity biological process: regulation of transcription, DNA-dependent |
| Unique id : H008650_01
Name: Mannose receptor, C type 2 Chromosome: 17;X Cytoband: 17q23.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: kinase activity molecular function: receptor activity molecular function: sugar binding |
| Unique id : H002347_01
Name: Leukotriene B4 receptor Chromosome: 14 Cytoband: 14q11.2-q12 |
Sum Func: | SP Function: receptor for extracellular atp > utp and adp. the activity of this receptor is mediated by g proteins which activate a phosphatidylinositol-calcium second messenger system. may be the cardiac p2y receptor involved in the regulation of cardiac muscle contraction through modulation of l-type calcium currents. is a receptor for leukotriene b4, a potent chemoattractant involved in inflammation and immune response. | Gene Ontology: biological process: G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) biological process: immune response biological process: inflammatory response cellular component: integral to plasma membrane molecular function: leukotriene receptor activity biological process: muscle contraction molecular function: nucleotide binding |
| Unique id : H007202_01
Name: F-box protein 3 Chromosome: 11 Cytoband: 11p13 |
Sum Func: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. | SP Function: | Gene Ontology: biological process: protein ubiquitination biological process: proteolysis and peptidolysis molecular function: ubiquitin conjugating enzyme activity biological process: ubiquitin cycle cellular component: ubiquitin ligase complex molecular function: ubiquitin-protein ligase activity molecular function: ubiquitin-protein ligase activity |
| Unique id : H012519_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002533_01
Name: ATP-binding cassette, sub-family C (CFtr/MRP), member 6 Chromosome: 16 Cytoband: 16p13.1 |
Sum Func: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not yet been fully described. | SP Function: may participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. transports glutathione conjugates as leukotriene-c4 (ltc4) and n-ethylmaleimide s-glutathione (nem-gs). | Gene Ontology: molecular function: ATP binding molecular function: ATP binding molecular function: ATPase activity molecular function: ATPase activity, coupled to transmembrane movement of substances molecular function: ATPase activity, coupled to transmembrane movement of substances cellular component: integral to membrane cellular component: integral to membrane molecular function: nucleotide binding cellular component: plasma membrane biological process: response to drug biological process: transport biological process: transport molecular function: transporter activity biological process: visual perception |
| Unique id : H016127_01
Name: Hypothetical protein MGC5178 Chromosome: 16 Cytoband: 16p11.2 |
Sum Func: Exons of this gene overlap with exons of the phenol-preferring sulfotransferase (SULT1A3) gene, with transcription in a head-to-tail orientation. Two transcript variants that encode different protein isoforms have been identified through sequence analysis. | SP Function: catalyzes the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs. | Gene Ontology: biological process: DNA repair cellular component: intracellular molecular function: nuclease activity |
| Unique id : H005687_01
Name: Chromosome 14 open reading frame 79 Chromosome: 14 Cytoband: 14q32.33 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H013893_01
Name: Sec61 beta subunit Chromosome: 9;11 Cytoband: 9q22.32-q31.3 |
Sum Func: The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. | SP Function: | Gene Ontology: |
| Unique id : H009446_01
Name: CK2 interacting protein 1; HQ0024c protein Chromosome: 1 Cytoband: 1q21.2 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014417_01
Name: X 010 protein Chromosome: 3 Cytoband: 3q13.33 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007909_01
Name: AT rich interactive domain 3A (brIGHT- like) Chromosome: 19 Cytoband: 19p13.3 |
Sum Func: This gene is a member of the ARID (AT-rich interaction domain) family of proteins which bind DNA. It was found by its homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. | SP Function: | Gene Ontology: cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity |
| Unique id : H005394_01
Name: Zinc finger CCCH type domain containing 1 Chromosome: 7 Cytoband: 7q34 |
Sum Func: | SP Function: | Gene Ontology: molecular function: nucleic acid binding cellular component: nucleus |
| Unique id : H004176_01
Name: Mitogen-activated protein kinase kinase kinase 11 Chromosome: 11 Cytoband: 11q13.1-q13.3 |
Sum Func: The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. | SP Function: | Gene Ontology: molecular function: ATP binding biological process: JNK cascade biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: protein-tyrosine kinase activity molecular function: transferase activity |
| Unique id : H003094_01
Name: Potassium voltage-gated channel, KQT-like subfamily, member 1 Chromosome: 11 Cytoband: 11p15 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H006765_01
Name: Immunoglobulin superfamily, member 6 Chromosome: 16 Cytoband: 16p12-p13 |
Sum Func: | SP Function: | Gene Ontology: biological process: cell surface receptor linked signal transduction biological process: immune response cellular component: integral to plasma membrane molecular function: transmembrane receptor activity |
| Unique id : H002099_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H014346_01
Name: Amyotrophic lateral sclerosis 2 (juvenile) Chromosome: 2 Cytoband: 2q33.1 |
Sum Func: | SP Function: | Gene Ontology: molecular function: Rab guanyl nucleotide exchange factor activity molecular function: Ran guanyl nucleotide exchange factor activity molecular function: Rho guanyl nucleotide exchange factor activity cellular component: cytosol cellular component: early endosome biological process: endosome organization and biogenesis cellular component: vesicular fraction |
| Unique id : H013335_01
Name: Pallidin homolog (mouse) Chromosome: 15 Cytoband: 15q21.1 |
Sum Func: The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. | SP Function: | Gene Ontology: cellular component: membrane biological process: synaptic vesicle docking during exocytosis molecular function: syntaxin-13 binding |
| Unique id : H007750_01
Name: Potassium inwardly-rectifying channel, subfamily J, member 14 Chromosome: 19 Cytoband: 19q13 |
Sum Func: Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. Two transcript variants encoding the same protein have been found for this gene. | SP Function: | Gene Ontology: cellular component: integral to membrane molecular function: inward rectifier potassium channel activity biological process: ion transport molecular function: potassium channel activity biological process: potassium ion transport molecular function: voltage-gated ion channel activity cellular component: voltage-gated potassium channel complex |
| Unique id : H013320_01
Name: T-box 1 Chromosome: 22 Cytoband: 22q11.21 |
Sum Func: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. | SP Function: | Gene Ontology: molecular function: RNA polymerase II transcription factor activity biological process: heart development biological process: morphogenesis cellular component: nucleus biological process: regulation of transcription from Pol II promoter molecular function: transcription factor activity |
| Unique id : H009493_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H015706_01
Name: Chromosome 19 open reading frame 27 Chromosome: 19 Cytoband: 19p13.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: catalytic activity |
| Unique id : H014678_01
Name: Hypothetical protein FLJ00012 Chromosome: 11 Cytoband: 11q13.4 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H005807_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H006596_01
Name: DKFZP434B0335 protein Chromosome: 7 Cytoband: 7q21.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H006925_01
Name: WD repeat endosomal protein Chromosome: 3;1;18 Cytoband: 3p21.33 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H009790_01
Name: Echinoderm microtubule associated protein like 2 Chromosome: 19 Cytoband: 19q13.32 |
Sum Func: | SP Function: may modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic (by similarity). | Gene Ontology: cellular component: microtubule associated complex biological process: perception of sound biological process: visual perception |
| Unique id : H014374_01
Name: PDZ domain containing 2 Chromosome: 11 Cytoband: 11q23.3 |
Sum Func: Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFtr; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation.[supplied by OMIM] | SP Function: | Gene Ontology: biological process: cGMP-mediated signaling cellular component: cytosol molecular function: guanylate cyclase inhibitor activity molecular function: ion channel inhibitor activity biological process: ion transport cellular component: membrane fraction biological process: negative regulation of cGMP biosynthesis molecular function: protein C-terminus binding molecular function: protein binding biological process: receptor guanylyl cyclase signaling pathway biological process: response to toxin cellular component: subapical complex biological process: water transport |
| Unique id : H005808_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H008323_01
Name: Ring finger protein 24 Chromosome: 20 Cytoband: 20p13-p12.1 |
Sum Func: The protein encoded by this gene contains similarity to the Drosophila goliath protein and thus may function as a transcription factor. | SP Function: | Gene Ontology: biological process: protein ubiquitination cellular component: ubiquitin ligase complex molecular function: ubiquitin-protein ligase activity molecular function: zinc ion binding |
| Unique id : H008917_01
Name: Hypothetical protein LOC90288 Chromosome: 3 Cytoband: 3q21.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H006068_01
Name: Zinc finger protein 385 Chromosome: 12 Cytoband: 12q13.13 |
Sum Func: | SP Function: | Gene Ontology: molecular function: DNA binding molecular function: nucleic acid binding cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: zinc ion binding |
| Unique id : H010598_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H010080_01
Name: ADP-ribosylation factor 6 Chromosome: 14 Cytoband: 14q21.3 |
Sum Func: ADP-ribosylation factor 6 (ARF6) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The ARF6 protein is uniquely localized to the plasma membrane. | SP Function: | Gene Ontology: molecular function: GTP binding biological process: intracellular protein transport biological process: small GTPase mediated signal transduction |
| Unique id : H004509_01
Name: Centaurin, delta 2 Chromosome: 11 Cytoband: 11q13.4 |
Sum Func: The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. The RHO-GAP activity may mediate cell rounding and loss of stress fibers. At least three transcript variants encoding different isoforms have been found for this gene, but the full-length nature of one variant has not been determined. | SP Function: | Gene Ontology: molecular function: DNA binding biological process: DNA replication biological process: regulation of GTPase activity biological process: signal transduction molecular function: zinc ion binding |
| Unique id : H015832_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004246_01
Name: Ribosomal protein L27 Chromosome: 17 Cytoband: 17q21.1-q21.2 |
Sum Func: Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L27E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. | SP Function: | Gene Ontology: cellular component: intracellular biological process: protein biosynthesis cellular component: ribosome molecular function: structural constituent of ribosome |
| Unique id : H009659_01
Name: Hippocalcin-like 1 Chromosome: 2 Cytoband: 2p25.1 |
Sum Func: The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. There are two alternatively spliced transcript variants of this gene, with multiple polyadenylation sites. | SP Function: may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. | Gene Ontology: molecular function: actin binding molecular function: calcium ion binding molecular function: clathrin binding cellular component: clathrin coat of trans-Golgi network vesicle cellular component: cytosol molecular function: tubulin binding biological process: vesicle-mediated transport |
| Unique id : H012478_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003590_01
Name: Retinal G protein coupled receptor Chromosome: 10 Cytoband: 10q23 |
Sum Func: | SP Function: receptor for all-trans-and 11-cis-retinal. binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism. | Gene Ontology: biological process: G-protein coupled receptor protein signaling pathway biological process: G-protein coupled receptor protein signaling pathway cellular component: integral to membrane cellular component: integral to plasma membrane biological process: phototransduction molecular function: receptor activity molecular function: rhodopsin-like receptor activity biological process: visual perception biological process: visual perception |
| Unique id : H008342_01
Name: M-phase phosphoprotein 1 Chromosome: 10 Cytoband: 10q23.31 |
Sum Func: | SP Function: | Gene Ontology: molecular function: ATP binding molecular function: ATPase activity molecular function: WW domain binding biological process: cell cycle arrest cellular component: centrosome cellular component: microtubule associated complex molecular function: motor activity cellular component: nucleolus cellular component: nucleoplasm biological process: regulation of mitosis |
| Unique id : H003126_01
Name: Non-metastatic cells 4, protein expressed in Chromosome: 16 Cytoband: 16p13.3 |
Sum Func: The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and deoxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4. The first nm23 gene, nm23-H1 (NME1; MIM 156490), was isolated based on its reduced expression in a highly metastatic murine melanoma cell line and was proposed to be a metastasis suppressing gene. The human equivalent was obtained by cDNA library screening using the murine gene as a probe and found to be homologous to the Drosophila awd gene. A second human gene, nm23-H2 (NME2; MIM 156491), encoding a protein 88% identical to nm23-H1, was subsequently isolated. Both genes were localized on 17q21.3 and their gene products were formerly identified as the A and B subunits of NDP kinases. Milon et al. (1997 [PubMed 9099850]) noted that in mammals, functional NDP kinases are heterohexamers of the A and B monomers, which can combine at variable ratios to form different types of hybrids. These enzymes are highly expressed in tumors as compared with normal tissues. In some cell lines and in certain solid tumors, decreased expression of NME1 is associated with increased metastatic potential; moreover, when transfected into very aggressive cell lines, such as human breast carcinoma, NME1 decreased the metastatic potential. A third human gene, DR-nm23 (NME3; MIM 601817), was identified and found to share high sequence similarity with the NME1 and NME2 genes. It is highly expressed in blast crisis transition of chronic myeloid leukemia. When overexpressed by transfection, NME3 suppressed granulocyte differentiation and induced apoptosis of myeloid precursor cells.[supplied by OMIM] | SP Function: major role in the synthesis of nucleoside triphosphates other than atp (by similarity). | Gene Ontology: molecular function: ATP binding biological process: CTP biosynthesis biological process: GTP biosynthesis biological process: UTP biosynthesis molecular function: kinase activity cellular component: mitochondrion biological process: nucleoside metabolism molecular function: nucleoside-diphosphate kinase activity molecular function: transferase activity |
| Unique id : H003755_01
Name: Interferon regulatory factor 3 Chromosome: 19 Cytoband: 19q13.3-q13.4 |
Sum Func: IRF3 encodes interferon regulatory factor 3, a member of the interferon regulatory transcription factor (IRF) family. IRF3 is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. | SP Function: may activate transcription by complex formation with other transcriptional factors, possibly members of the stat family. binds specifically to the ifn-stimulated response element (isre) but not to the irf-1 binding site prd-i. | Gene Ontology: molecular function: RNA polymerase II transcription factor activity cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription cofactor activity molecular function: transcription factor activity biological process: transcription from Pol II promoter |
| Unique id : H004230_01
Name: Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 Chromosome: 10 Cytoband: 10q22-q23 |
Sum Func: MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. At least two transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only one of them has been described. | SP Function: | Gene Ontology: |
| Unique id : H005802_01
Name: Chromosome 17 open reading frame 27 Chromosome: 17;15 Cytoband: 17q25.3 |
Sum Func: | SP Function: | Gene Ontology: biological process: protein ubiquitination cellular component: ubiquitin ligase complex molecular function: ubiquitin-protein ligase activity molecular function: zinc ion binding |
| Unique id : H002461_01
Name: A disintegrin and metalloproteinase domain 12 (meltrin alpha) Chromosome: 10 Cytoband: 10q26.3 |
Sum Func: This gene encodes a disintegrin and metalloprotease (ADAM) domain 12, which is a member of the ADAM protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene has 2 alternative splicing transcript forms: a shorter secreted form and a longer membrane-bound form, that diverge at their 3' ends. The shorter form is found to stimulate myogenesis. | SP Function: involved in skeletal muscle regeneration, specifically at the onset of cell fusion. also involved in macrophage-derived giant cells (mgc) and osteoclast formation from mononuclear precursors (by similarity). | Gene Ontology: biological process: cell adhesion molecular function: hydrolase activity cellular component: integral to membrane molecular function: metalloendopeptidase activity biological process: myoblast fusion cellular component: plasma membrane molecular function: protein binding biological process: proteolysis and peptidolysis molecular function: zinc ion binding |
| Unique id : H006334_01
Name: Lysophospholipase 3 (lysosomal phospholipase A2) Chromosome: 16 Cytoband: 16q22.1 |
Sum Func: Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. | SP Function: | Gene Ontology: molecular function: acyltransferase activity biological process: fatty acid metabolism molecular function: hydrolase activity cellular component: lysosome molecular function: phosphatidylcholine-sterol O-acyltransferase activity molecular function: transferase activity |
| Unique id : H008291_01
Name: Double homeobox, 1 |
Sum Func: | SP Function: | Gene Ontology: cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: transcription factor activity biological process: transcription from Pol II promoter |
| Unique id : H013332_01
Name: N-acetylglucosamine kinase Chromosome: 2 Cytoband: 2p13.3 |
Sum Func: N-acetylglucosamine kinase (NAGK; EC 2.7.1.59) converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. NAGK belongs to the group of N-acetylhexosamine kinases and is a prominent salvage enzyme of amino sugar metabolism in mammals.[supplied by OMIM] | SP Function: | Gene Ontology: molecular function: ATP binding molecular function: N-acetylglucosamine kinase activity biological process: N-acetylglucosamine metabolism biological process: N-acetylmannosamine metabolism molecular function: kinase activity molecular function: transferase activity |
| Unique id : H014801_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H009993_01
Name: RAB4B, member RAS oncogene family Chromosome: 19 Cytoband: 19q13.2 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H006440_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H000416_01
Name: Procollagen (type III) N-endopeptidase Chromosome: 16 Cytoband: 16q24.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: metallopeptidase activity molecular function: zinc ion binding |
| Unique id : H008675_01
Name: Rap guanine nucleotide exchange factor (GEF) 3 Chromosome: 12 Cytoband: 12q13.1 |
Sum Func: | SP Function: | Gene Ontology: molecular function: 3',5'-cAMP binding cellular component: cAMP-dependent protein kinase complex molecular function: cAMP-dependent protein kinase regulator activity biological process: cell proliferation molecular function: guanyl nucleotide exchange factor activity cellular component: membrane fraction biological process: protein amino acid phosphorylation biological process: small GTPase mediated signal transduction |
| Unique id : H005588_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002681_01
Name: Cyclin D3 Chromosome: 6 Cytoband: 6p21 |
Sum Func: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. | SP Function: essential for the control of the cell cycle at the g1/s (start) transition. | Gene Ontology: biological process: cytokinesis cellular component: nucleus biological process: regulation of cell cycle |
| Unique id : H012105_01
Name: Testis enhanced gene transcript (BAX inhibitor 1) Chromosome: 12;11;3;22 Cytoband: 12q12-q13 |
Sum Func: | SP Function: suppressor of apoptosis. | Gene Ontology: biological process: apoptosis cellular component: endoplasmic reticulum cellular component: insoluble fraction cellular component: integral to plasma membrane biological process: negative regulation of apoptosis cellular component: nucleus |
| Unique id : H007547_01
Name: Adaptor protein containing pH domain, PTB domain and leucine zipper motif 1 Chromosome: 3 Cytoband: 3p21.1-p14.3 |
Sum Func: The specific function of the adaptor protein encoded by this gene is not known; however, it is speculated that it may recruit kinases AKT2 and PIK3 to the cell membrane. | SP Function: | Gene Ontology: biological process: cell proliferation cellular component: cytoplasm molecular function: protein binding molecular function: protein serine/threonine kinase activity biological process: signal transduction |
| Unique id : H003902_01
Name: 24-dehydrocholesterol reductase Chromosome: 1 Cytoband: 1p33-p31.1 |
Sum Func: This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer's disease patients and overexpression has been observed in cancer of the adrenal gland. | SP Function: catalyzes the reduction of the delta-24 double bond of sterol intermediates. protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. also protects against amyloid-beta peptide-induced apoptosis. | Gene Ontology: cellular component: Golgi apparatus biological process: cholesterol biosynthesis biological process: electron transport cellular component: endoplasmic reticulum cellular component: integral to membrane molecular function: oxidoreductase activity |
| Unique id : H013003_01
Name: CD84 antigen (leukocyte antigen) Chromosome: 1 Cytoband: 1q24 |
Sum Func: Members of the CD2 (see MIM 186990) subgroup of the Ig superfamily, such as CD84, have similar patterns of conserved disulfide bonds and function in adhesion interactions between T lymphocytes and accessory cells.[supplied by OMIM] | SP Function: | Gene Ontology: biological process: defense response biological process: homophilic cell adhesion cellular component: integral to plasma membrane |
| Unique id : H006234_01
Name: Hypothetical protein DKFZp686L21136 Chromosome: 19 Cytoband: 19p13.2 |
Sum Func: | SP Function: may be involved in transcriptional regulation. | Gene Ontology: molecular function: DNA binding cellular component: intracellular molecular function: nucleic acid binding cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: zinc ion binding |
| Unique id : H006378_01
Name: Chromosome 7 open reading frame 28B Chromosome: 7 Cytoband: 7p22.1 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H012877_01
Name: Glioma tumor suppressor candidate region gene 1 Chromosome: 19 Cytoband: 19q13.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H015833_01
Name: Clone FLB8034 PRO2158 mRNA, complete cds |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007931_01
Name: Ferritin, heavy polypeptide pseudogene 1 Chromosome: 6;11 Cytoband: 6p21.3-p12 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003689_01
Name: Proline dehydrogenase (oxidase) 1 Chromosome: 22 Cytoband: 22q11.21 |
Sum Func: The protein encoded by this gene is a mitochondrial proline dehydrogenase which catalyzes the first step in proline catabolism. Deletion of this gene has been associated with type I hyperprolinemia. The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes DiGeorge syndrome and CATCH22 syndrome. | SP Function: converts proline to delta-1-pyrroline-5-carboxylate. | Gene Ontology: biological process: glutamate biosynthesis biological process: induction of apoptosis by oxidative stress cellular component: mitochondrion molecular function: oxidoreductase activity biological process: proline catabolism molecular function: proline dehydrogenase activity molecular function: proline dehydrogenase activity |
| Unique id : H014396_01
Name: KIAA1536 protein Chromosome: 12 Cytoband: 12q13.13 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H001062_01
Name: N-acylsphingosine amidohydrolase (acid ceramidase) 1 Chromosome: 8 Cytoband: 8p22-p21.3 |
Sum Func: This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Two transcript variants encoding distinct isoforms have been identified for this gene. | SP Function: hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. | Gene Ontology: molecular function: ceramidase activity biological process: ceramide metabolism biological process: fatty acid metabolism molecular function: hydrolase activity cellular component: lysosome |
| Unique id : H010817_01
Name: Heart and neural crest derivatives expressed 2 Chromosome: 4 Cytoband: 4q33 |
Sum Func: The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. | SP Function: | Gene Ontology: molecular function: DNA binding biological process: angiogenesis biological process: development cellular component: nucleus biological process: regulation of transcription, DNA-dependent |
| Unique id : H003305_01
Name: Ribosomal protein S6 kinase, 70kDa, polypeptide 1 Chromosome: 17 Cytoband: 17q23.2 |
Sum Func: This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates several residues of the S6 ribosomal protein. The kinase activity of this protein leads to an increase in protein synthesis and cell proliferation. Amplification of the region of DNA encoding this gene and overexpression of this kinase are seen in some breast cancer cell lines. Alternate translational start sites have been described and alternate transcriptional splice variants have been observed but have not been thoroughly characterized. | SP Function: phosphorylates specifically ribosomal protein s6 in response to insulin or several classes of mitogens. | Gene Ontology: molecular function: ATP binding biological process: protein amino acid phosphorylation molecular function: protein serine/threonine kinase activity molecular function: protein-tyrosine kinase activity biological process: signal transduction molecular function: transferase activity |
| Unique id : H008511_01
Name: Px19-like protein Chromosome: 5;1;2 Cytoband: 5q35.3 |
Sum Func: | SP Function: | Gene Ontology: biological process: development biological process: immune response |
| Unique id : H004914_01
Name: APG3 autophagy 3-like (S. cerevisiae) Chromosome: 3 Cytoband: 3q13.2 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007588_01
Name: MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish)) Chromosome: X Cytoband: Xp11.4 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H015876_01
Name: Tubulin, beta 1 Chromosome: 20 Cytoband: 20q13.32 |
Sum Func: | SP Function: tubulin is the major constituent of microtubules. it binds two moles of gtp, one at an exchangeable site on the beta chain and one at a nonexchangeable site on the alpha-chain. | Gene Ontology: molecular function: GTP binding molecular function: GTPase activity biological process: microtubule polymerization biological process: microtubule-based movement molecular function: structural molecule activity cellular component: tubulin |
| Unique id : H005598_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003663_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H016510_01
Name: Coronin 7 Chromosome: 16 Cytoband: 16p13.3 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003293_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H010576_01
Name: PBX/knotted 1 homeobox 1 Chromosome: 21 Cytoband: 21q22.3 |
Sum Func: | SP Function: | Gene Ontology: cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: specific RNA polymerase II transcription factor activity molecular function: transcription factor activity molecular function: transcription factor activity |
| Unique id : H014657_01
Name: Docking protein 3 Chromosome: 5 Cytoband: 5q35.3 |
Sum Func: | SP Function: | Gene Ontology: molecular function: insulin receptor binding |
| Unique id : H007759_01
Name: Ubiquitin specific protease 34 Chromosome: 2 Cytoband: 2p15 |
Sum Func: | SP Function: | Gene Ontology: molecular function: cysteine-type endopeptidase activity molecular function: ubiquitin thiolesterase activity biological process: ubiquitin-dependent protein catabolism |
| Unique id : H006786_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003546_01
Name: Integrin, alpha 5 (fibronectin receptor, alpha polypeptide) Chromosome: 12 Cytoband: 12q11-q13 |
Sum Func: The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. | SP Function: integrin alpha-5/beta-1 is a receptor for fibronectin and fibrinogen. it recognizes the sequence r-g-d in its ligands. | Gene Ontology: biological process: cell-matrix adhesion cellular component: integral to membrane cellular component: integrin complex biological process: integrin-mediated signaling pathway molecular function: protein binding molecular function: receptor activity |
| Unique id : H009608_01
Name: Absent in melanoma 1 Chromosome: 6 Cytoband: 6q21 |
Sum Func: | SP Function: may function as suppressor of malignant melanoma. it may exert its effects through interactions with the cytoskeleton. | Gene Ontology: biological process: biological_process unknown cellular component: cellular_component unknown molecular function: sugar binding |
| Unique id : H015895_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H012591_01
Name: Hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 Chromosome: 15 Cytoband: 15q22 |
Sum Func: The protein encoded by this gene stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein is thought to be involved in membrane transport processes | SP Function: | Gene Ontology: molecular function: ARF guanyl nucleotide exchange factor activity cellular component: Golgi apparatus biological process: ubiquitin cycle molecular function: ubiquitin-protein ligase activity |
| Unique id : H000570_01
Name: CREB binding protein (Rubinstein-Taybi syndrome) Chromosome: 16 Cytoband: 16p13.3 |
Sum Func: | SP Function: acetyltransferase enzyme. acetylates histones, giving a specific tag for transcriptional activation. also acetylates non- histone proteins, like ncoa3 coactivator. mediates camp-gene regulation by binding specifically to phosphorylated creb protein. cbp, as coactivator, augments the activity of phosphorylated creb to activate transcription of camp-responsive genes. | Gene Ontology: cellular component: cytoplasm molecular function: histone acetyltransferase activity biological process: homeostasis cellular component: nucleus molecular function: protein binding biological process: protein complex assembly biological process: regulation of transcription, DNA-dependent biological process: response to hypoxia molecular function: signal transducer activity biological process: signal transduction molecular function: transcription coactivator activity molecular function: transcription factor activity molecular function: transferase activity molecular function: zinc ion binding |
| Unique id : H010141_01
Name: OCIA domain containing 1 Chromosome: 4 Cytoband: 4p11 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H004626_01
Name: Cullin 7 Chromosome: 6 Cytoband: 6p21.1 |
Sum Func: | SP Function: | Gene Ontology: cellular component: anaphase-promoting complex biological process: cell cycle molecular function: protein binding biological process: proteolysis and peptidolysis biological process: regulation of endothelial cell differentiation biological process: ubiquitin cycle biological process: vasculogenesis |
| Unique id : H006420_01
Name: Xenotropic and polytropic retrovirus receptor Chromosome: 1 Cytoband: 1q25.1 |
Sum Func: | SP Function: | Gene Ontology: molecular function: G-protein coupled receptor activity biological process: G-protein coupled receptor protein signaling pathway cellular component: integral to membrane cellular component: integral to plasma membrane molecular function: receptor activity |
| Unique id : H011835_01
Name: Checkpoint with forkhead and ring finger domains Chromosome: 12 Cytoband: 12q24.33 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H007246_01
Name: Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) Chromosome: 4 Cytoband: 4p16.3 |
Sum Func: Mice homozygous for the rd mutation display hereditary retinal degeneration which has been considered a model for human retinitis pigmentosa. In affected animals, the retinal rod photoreceptor cells begin degenerating at about postnatal day 8, and by 4 weeks no photoreceptors are left. Farber and Lolley (1974, 1976) [PubMed 4369896] [PubMed 6493] showed that degeneration is preceded by accumulation of cyclic GMP in the retina and is correlated with deficient activity of the rod photoreceptor cGMP-phosphodiesterase. Bennett et al. (1996) [PubMed 8640555] tested the possibility of altering the course of retinal degeneration through subretinal injection of recombinant replication defective adenovirus that contained the murine cDNA for wildtype beta-PDE. Subretinal injection of rd mice was carried out 4 days after birth, before the onset of rd retinal degeneration. Following therapy, beta-PDE transcripts and enzyme activity were detected, and histologic studies revealed that photoreceptor cell death was significantly retarded.[supplied by OMIM] | SP Function: this protein participates in processes of transmission and amplification of the visual signal. necessary for the formation of a functional phosphodiesterase holoenzyme. | Gene Ontology: molecular function: cGMP-specific phosphodiesterase activity molecular function: hydrolase activity cellular component: membrane biological process: phototransduction, visible light biological process: signal transduction biological process: visual perception |
| Unique id : H016501_01
Name: Aminopeptidase-like 1 Chromosome: 20 Cytoband: 20q13.32 |
Sum Func: | SP Function: | Gene Ontology: cellular component: cytoplasm molecular function: leucyl aminopeptidase activity molecular function: manganese ion binding biological process: protein metabolism biological process: proteolysis and peptidolysis |
| Unique id : H008178_01
Name: ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2 Chromosome: 7 Cytoband: 7q22.1 |
Sum Func: Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the F0 complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. | SP Function: this is one of the chains of the nonenzymatic component (cf(0) subunit) of the mitochondrial atpase complex. | Gene Ontology: biological process: ATP biosynthesis molecular function: hydrogen ion transporter activity cellular component: mitochondrion biological process: proton transport cellular component: proton-transporting ATP synthase complex (sensu Eukaryota) |
| Unique id : H005471_01
Name: Nuclear receptor subfamily 1, group D, member 1 Chromosome: 17 Cytoband: 17q11.2 |
Sum Func: | SP Function: possible receptor for triiodothyronine. | Gene Ontology: cellular component: nucleus biological process: regulation of transcription, DNA-dependent molecular function: steroid hormone receptor activity molecular function: transcription corepressor activity molecular function: transcription factor activity |
| Unique id : H003304_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H002540_01
Name: Solute carrier family 8 (sodium/calcium exchanger), member 1 Chromosome: 2 Cytoband: 2p23-p22 |
Sum Func: In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM] | SP Function: rapidly transports ca(2+) during excitation-contraction coupling. ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores. | Gene Ontology: molecular function: antiporter activity biological process: calcium ion transport molecular function: calcium ion transporter activity molecular function: calcium:sodium antiporter activity molecular function: calmodulin binding biological process: cell communication cellular component: integral to plasma membrane biological process: muscle contraction biological process: sodium ion transport molecular function: sodium ion transporter activity biological process: transport |
| Unique id : H005279_01
Name: Gamma tubulin ring complex protein (76p gene) Chromosome: 15 Cytoband: 15q15 |
Sum Func: | SP Function: | Gene Ontology: cellular component: centrosome cellular component: gamma-tubulin ring complex cellular component: microtubule cytoskeleton biological process: microtubule nucleation biological process: protein complex assembly molecular function: structural constituent of cytoskeleton |
| Unique id : H001032_01
Name: Cytotoxic T-lymphocyte-associated protein 4 Chromosome: 2 Cytoband: 2q33 |
Sum Func: | SP Function: possibly involved in t-cell activation. binds to b7-1 (cd80) and b7-2 (cd86). | Gene Ontology: biological process: immune response cellular component: integral to plasma membrane |
| Unique id : H003509_01
Name: Transmembrane trafficking protein Chromosome: 14;5;16;11;8 Cytoband: 14q24.3 |
Sum Func: | SP Function: | Gene Ontology: biological process: ER to Golgi transport cellular component: Golgi apparatus cellular component: integral to plasma membrane cellular component: membrane fraction cellular component: microsome biological process: protein transport |
| Unique id : H005608_01
Name: Interleukin 23, alpha subunit p19 Chromosome: 12 Cytoband: 12q13.3 |
Sum Func: This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. | SP Function: | Gene Ontology: |
| Unique id : H001816_01 |
Sum Func: | SP Function: | Gene Ontology: |
| Unique id : H003596_01
Name: O-6-methylguanine-DNA methyltransferase Chromosome: 10 Cytoband: 10q26 |
Sum Func: | SP Function: involved in the cellular defense against the biological effects of o6-methylguanine (o6-meg) in DNA. repairs alkylated guanine in dna by stoichiometrically transferring the alkyl group at the o-6 position to a cysteine residue in the enzyme. this is a suicide reaction: the enzyme is irreversibly inactivated. | Gene Ontology: molecular function: DNA binding biological process: DNA ligation biological process: DNA repair molecular function: DNA-methyltransferase activity molecular function: methylated-DNA-[protein]-cysteine S-methyltransferase activity cellular component: nucleus molecular function: transferase activity |
| Unique id : H003956_01
Name: Zinc finger protein 259 Chromosome: 11;10 Cytoband: 11q23.3 |
Sum Func: | SP Function: may be a signaling molecule that communicates mitogenic signals from the cytoplasm to the nucleus. | Gene Ontology: biological process: cell proliferation cellular component: cytoplasm cellular component: nucleolus molecular function: protein binding biological process: signal transduction molecular function: zinc ion binding |
| Unique id : H000260_01 |
Sum Func: | SP Function: | Gene Ontology: |