"Bioss"

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This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011].

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Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

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Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the elongin B and C complex. Serveral other families of proteins also contain SOCS boxes but differ from the SOCS proteins in the type of domain they contained upstream of the SOCS box. Four members of the ankyrin repeat and SOCS box-containing (ASB) protein family are identified and termed as ASB-1, ASB-2, ASB-3 and ASB-4. ASB-1 is expressed in multiple organs, including the hematopoietic compartment. ASB-1 knock-out mice display a diminution of spermatogenesis with less complete filling of seminiferous tubules. Asb-2 is a novel retinoic-acid (RA)-induced gene in acute promyelocytic leukemia (APL) cells and its expression induces growth-inhibition and chromatin condensation recapitulating early events critical to RA-induced differentiaiton of APL cells. ASB-2 is directly induced by all-trans retinotic acid, by the binding of RARa to the RAR binding element/RXR binding element in the Asb-2 promoter.

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This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). [provided by RefSeq, Jul 2008].

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HEATR5A.

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The Raf kinases are important intermediates in signal transduction. Raf protein family members, including A Raf and B Raf, have intrinsic serine/threonine kinase activity. Interaction between Ras proteins and Raf proteins results in Raf-mediated phosphorylation and activation of MEK (also known as MAP kinase kinase). Defects in BRAF are involved in a wide range of cancers. B-Raf is a serine/threonine protein kinase that acts as a signal transducer from membrane-associated receptors to nuclear transcription factors. 1 BRAF is important for the regulation of cell proliferation and determination of cell fate during embryogenesis. BRAF acts downstream of Ras and upstream of MEK in the Ras-Raf-MEK-ERK signal transduction pathway, which is a conserved RAS-activated protein kinase cascade that regulates cell growth, proliferation, and differentiation in response to growth factors, cytokines, and hormones.

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Involved in transcriptional regulation. Transcriptional activity differed among the various isoforms. All isoforms except isoform 3 seem to suppresses the transcriptional activities of AP-1 and p53/TP53.Tissue specificity:Expressed in all tissues examined. Isoforms are differentially expressed. Isoform 3 and isoform 5 were highly expressed, isoform 4 moderately expressed, isoform 2 lower expression, the lowest expression level was seem with isoform 1.

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Src (also known as pp60src) is a non receptor Tyrosine Kinase involved in signal transduction in many biological systems and implicated in the development of human tumors. There are two critical phosphorylation sites of tyrosine on Src, tyrosine 418 and tyrosine 529 (referring to human Src sequence). The tyrosine 418 is located in the catalytic domain and is one of the autophosphorylation sites. Full catalytic activity of Src requires phosphorylation of tyrosine 418. The tyrosine 529 is located near the carboxyl terminus of Src and acts as a negative regulator, in that Src is held in the inactive form through an intramolecular interaction between the SH2 domain and the carboxyl terminus when tyrosine 529 is phosphorylated by Csk. This conformation blocks phosphorylation of tyrosine 418 at the catalytic domain, thereby preventing Src activation. When tyrosine 529 is dephosphorylated, tyrosine 418 can be maximally phosphorylated and Src becomes active. Src is a proto oncogene that may play a role in the regulation of embryonic development and cell growth. Mutations in this gene could be involved in the malignant progression of colon cancer. Immunogen: Synthetic peptide (Human) derived from the region of Src that contains tyrosine 529, based on the human sequence. The sequence is conserved in mouse (tyrosine 534), chicken (tyrosine 527) and frog (tyrosine 525).

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CAPD2 is a regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condensed chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. It may target the condensin complex to DNA via its C-terminal domain (referenced from Swissprot).

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Carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8) is a highly glycosylated protein expressed only in neutrophils and eosinophils in humans. The precise function of CEACAM8 remains unclear. As a member of the family of carcinoembryonic antigen (CEA), it may play a role in the interaction between granulocytes or between granulocytes and epithelial cells. Expressed in leukocytes of chronic myeloid Leukemia patients and bone marrow.

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SKALP

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This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit. This protein is a specific target of S6 kinase 1 and regulates cell growth. Two transcript variants that encode different protein isoforms have been identified. [provided by RefSeq, Jul 2008].

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Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)-dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D-lactate, pyruvate, acetate, propionate, valerate and butyrate), lactate, mocarboxylate drugs (nicotinate, benzoate, salicylate and 5-aminosalicylate) and ketone bodies (beta-D-hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1. Catalyzes passive carrier mediated diffusion of iodide. Mediates iodide transport from the thyrocyte into the colloid lumen through the apical membrane. May be responsible for the absorption of D-lactate and monocarboxylate drugs from the intestinal tract. Acts as a tumor suppressor, suppressing colony formation in colon cancer, prostate cancer and glioma cell lines. May play a critical role in the entry of L-lactate and ketone bodies into neurons by a process driven by an electrochemical Na(+) gradient and hence contribute to the maintenance of the energy status and function of neurons.

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Junctophilins are components of the junctional complexes between plasma membranes and endoplasmic or sarcoplasmic reticulums present in all excitable cells. Junctophilins contain a cytoplasmic domain which binds to the plasma membrane, as well as an ER/SR membrane spanning hydrophobic C-terminal segment. The three subtypes in this family are Junctophilin-1, -2 and -3. Junctophilin-1 is predominantly expressed in skeletal muscle, but is also expressed at low levels in heart. Junctophilin-2 is expressed in heart and skeletal muscle. Mutant mice lacking the Jph2 gene exhibit embryonic lethality and possess cardiac myocytes that express abnormal calcium transients. Junctophilin-3 is expressed in brain. The JPH3 alternatively spliced exon 2A has been suggested as a site for CTG repeat expansion leading to a Huntington disease-like autosomal dominant disorder.

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Mitotic kinesin required for chromosome passenger complex (CPC)-mediated cytokinesis. Following phosphorylation by PLK1, involved in recruitment of PLK1 to the central spindle. Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end-directed motility.

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No data available.