Supplier: Bioss

Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles.

Supplier: Bioss

Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses (By similarity).

Supplier: Bioss

Activates STAT3 and possibly STAT1 and STAT5 through the IL31 heterodimeric receptor composed of IL31RA and OSMR. IL31 may function in skin immunity.

Supplier: Bioss

Phospholipase C beta 1 catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. Its gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for its gene.

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Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodelling and degradation, in cell migration and many other physiopathological events. Plays a direct role in facilitating neuronal migration.

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This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008].

Supplier: Bioss

This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008].

Supplier: Bioss

MOZ (monocytic leukemia zinc finger protein) is a chromatin-associated histone acetyltransferase (HAT) that regulates chromatin remodeling and transcription. The MOZ gene was initially isolated as a consequence of two variant translocations that were identified in a distinct subtype of acute myeloid leukemias and resulted in the formation of MOZ fusion proteins. These fusions involve the HAT domain of MOZ with the activation domain of either transcriptional coactivator protein TIF2/GRIP1 or CBP, and lead to enhanced transcriptional activation by a mechanism involving aberrant histone acetylation. Additional MOZ related proteins, including MORF (MOZ related factor) and TIP60 (TAT interacting proteins 60), share significant similarities with MOZ including the putuative HAT domain. MORF also contains a strong transcriptional repression domain at its N terminus and a highly potent activation domain at the C terminus, suggesting that MORF has both HAT activity and contributes to the regulation of transcriptional activation. TIP60 was originally identified as a coactivator for the HIV TAT protein and also functions as a nuclear hormone receptor coactivator that enhances ligand dependent steroid receptor-mediated transactivation involving the androgen, estrogen and progesterone receptors.

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Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.

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Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF.

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APS (adapter protein with Pleckstrin homology and Src homology 2 domains) is a member of the Lnk family, an adaptor protein that is involved in B cell signaling, insulin signaling and cytoskeletal reorganisation. A PH and an SH2 domain containing adaptor protein that links activated tyrosine kinases to signaling pathways. It is tyrosine phosphorylated by JAK2, KIT and other kinases during B cell receptor stimulation of many different cytokines, chemokines and leukokines. APS has been shown to inhibit the JAK STAT pathway in collaboration with cCbl.

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Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.

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Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes 'Lys-63'-linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin-protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein levels by inhibiting their autoubiquitination and subsequent degradation; this does not depend on the TRAF2 RING-type zinc finger domain. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR. In complex with BIRC2 or BIRC3, promotes ubiquitination of IKBKE.

Supplier: Bioss

The RAD23 gene of Saccharomyces cerevisiae is required for excision-repair of UV damaged DNA (1). RAD23 resembles the other DNA repair genes, RAD2, RAD6, RAD7, RAD18, and RAD54, all of which also exhibit increased transcription in response to DNA damage and during meiosis (2). RAD23 encodes a nuclear protein containing a ubiquitin-like domain required for biological function (3). RAD23 bears a ubiquitin-like domain at its amino terminus and this ubiquitin-like domain affects protein function in a nonproteolytic manner (3). Rad23 is a highly conserved protein involved in nucleotide excision repair (NER) that associates with the proteasome via its amino-terminus (4). Its carboxy-terminal ubiquitin-associated domain is evolutionarily conserved from yeast to humans (4). In addition to a role in DNA repair events in yeast, several lines of evidence indicate that the Rad23 protein may regulate the activity of the 26 S proteasome (5).

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Apolipoproteins are protein components of plasma lipoproteins (1). The apolipoprotein L gene family encodes six highly homologous proteins designated apoL-I to -VI, which are associated with large high density type lipoproteins (HDL) (2,3). The human apoL family maps to chromosome 22q12.1-13.1 within a 127,000-bp region (4). ApoL has been characterized as a pancreas specific, 383-amino acid protein that contains a 12-amino acid secretory signal peptide (4). The apoL genes have TATA-less promoters and contain putative sterol regulatory elements, suggesting that transcription of these genes may be coordinated with that of the low density lipoprotein receptor and genes in pathways involving the synthesis of triglycerides and cholesterol (3). ApoL homologs can undergo 10 fold changes in expression during atherosclerotic changes in vascular endothelial cells, which includes the inflammatory reaction of atherosclerotic lesions (5).

Supplier: Bioss

Immediate-early transcription factor that controls the initiation of viral lytic gene expression and lytic reactivation from latency. Triggers lytic replication, and initiates a cellular senescence program in epithelial cells. Upregulates human DCR3/TNFRSF6B by directly binding to its receptor.

Supplier: Bioss

Steroid and thyroid hormones and retinoic acid regulate a complex array of gene expression activity via intracellular receptor transcription factors belonging to the ligand dependent nuclear receptor superfamily. Adding to the complexity of function of these transcription factors are associated proteins known as coactivators and corepressors which, as their names suggest, enhance or depress transcriptional activity of the nuclear receptor with which they associate. One such coactivator is KAT13C / nuclear receptor coactivator 2 (NCOA2), also termed Glucocorticoid receptor-interacting protein 1 (GRIP1).

Supplier: Bioss

This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009].

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REEP5 is a 189 amino acid multi-pass membrane protein. Thought to promote the functional cell surface expression of olfactory receptors, REEP5 belongs to the DP1 family and is encoded by a gene that maps to chromosome 5. With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6% of human genomic DNA. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.

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Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf46 gene product has been provisionally designated C7orf46 pending further characterisation.

Supplier: Bioss

May play an important role in controlling cell growth and proliferation through the selective translation of particular classes of mRNA.

Supplier: Bioss

The NFKB complex consists of NFKB1 or NFKB2 bound to REL, RELA, or RELB. The NFKB complex is inhibited by I kappa B proteins (NFKBIA, or NFKBIB), which inactivate NF kappa B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I kappa B proteins by kinases (IKBKA, or IKBKB,) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF kappa B complex. For some genes, activation requires NFKB interaction with other transcription factors, such as STAT, AP1 (JUN), and NFAT.

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The Thrombospondin proteins, Thrombospondins 1-4 and Thrombospondin 5 (also designated COMP), compose a family of glycoproteins that are involved in cell-to-cell and cell-to-matrix signaling. These extracellular, cell-surface proteins form complexes of both homo- and heteromultimers. Spondin-2, or Mindin, is also designated DIL-1 for its differential expression in cancerous and non-cancerous lung cells. Full-length SPON2 cDNA encodes a 331 amino acid protein with a domain arrangement similar to zebrafish F-Spondin and Mindin-1/Mindin-2: an FS1 domain, an FS2 domain, a hydrophobic signal sequence in the N-terminus and a Thrombospondin type I repeat. Immunoblot analysis demonstrates expression of dimers and oligomers in a concentration-dependent manner under nonreducing conditions.

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The oligodendrocyte lineage-specific basic helix-loop-helix (OLIG) family of transcription factors include OLIG1-OLIG3, which differ in tissue expression. OLIG1 and OLIG2 are specifically expressed in nervous tissue as gene regulators of oligodendrogenesis. OLIG2 is more widely expressed in embryonic brain than OLIG1, while OLIG3 is primarily expressed in non-neural tissues. OLIG1 and OLIG2 interact with the Nkx-2.2 homeodomain protein, which is responsible for directing ventral neuronal patterning in response to graded Sonic hedgehog signaling in the embryonic neural tube. These interactions between OLIG proteins and Nkx-2.2 appear to promote the formation of alternate cell types by inhibiting V3 interneuron development. OLIG1 and OLIG2 are abundantly expressed in oligodendroglioma and nearly absent in astrocytomas. Therefore, OLIG proteins are candidates for molecular markers of human glial brain tumors, which are the most common primary malignancies of the human brain.

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Acts as an endocytic receptor mediating clathrin dependent endocytosis. Macrophage-restricted adhesion molecule that mediates sialic-acid dependent binding to lymphocytes, including granulocytes, monocytes, natural killer cells, B-cells and CD8 T-cells. Preferentially binds to alpha-2,3-linked sialic acid (By similarity). Binds to SPN/CD43 on T-cells (By similarity). May play a role in hemopoiesis.

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When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin.

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C3orf14 (chromosome 3 open reading frame 14), also known as HT021, is a 128 amino acid protein that is encoded by a gene mapping to human chromosome 3p14.2. Chromosome 3 is made up of approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.

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Cytokine that contributes to the inflammatory response in vivo.

Supplier: Bioss

CatSpers (cation channel, sperm associated proteins) are ion transport proteins located on the surface of sperm cells in the principal piece of the sperm tail. CatSpers are vital to sperm motility, fertilization and cAMP-mediated calcium influx in sperm. There are four CatSper proteins in mammalian sperm, namely CatSper (or CatSper1), CatSper2, CatSper3 and CatSper4. CatSper proteins contain a single, six-transmembrane-spanning segment and exhibit the voltage-dependent Ca2+ channel four-repeat structure. CatSper proteins are believed to assemble into a heterotetrameric complex, forming an alkalinization-activated Ca2+-selective channel. Mutations in any of the genes encoding CatSper family proteins can result in male infertility. CatSper3 plays an important role in the hyperactivated motility of sperm cells, a process that is required in the preparation of sperm for fertilization.

Supplier: Bioss

Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity. Down-regulates SOD1 activity by interfering with its homodimerization. Plays a role in copper ion homeostasis. Can bind one copper ion per monomer. May function to facilitate biliary copper excretion within hepatocytes.Tissue specificity:Ubiquitous. Highest expression in the liver, with lower expression in brain, lung, placenta, pancreas, small intestine, heart, skeletal muscle, kidney and placenta.