60755 Results for: "Bioss"

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This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277).

Supplier: Bioss

Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The C4orf14 gene product has been provisionally designated C4orf14 pending further characterization.

Supplier: Bioss

C22orf9 is a 404 amino acid protein that exists as three alternatively spliced isoforms and is encoded by a gene located on human chromosome 22, which contains over 500 genes and about 49 million bases. As the second smallest human chromosome, chromosome 22 contains a wide variety of genes with numerous functions. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia.

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UVRAG, also known as p63 or DHTX, is a 699 amino acid cytoplasmic protein. UVRAG has been shown to activate the BECN1/PI 3-kinase complex, which promotes autophagy. Autophagy is the degradation of cellular proteins in the lysosomes, and when this pathway is suppressed, cell growth is deregulated. Mutations in the gene encoding UVRAG have been associated with colon cancer, suggesting that UVRAG is also involved in suppressing the proliferation and tumorigenicity of human colon cancer cells. UVRAG has been found to complement the ultraviolet sensitivity of xeroderma pigmentosum group C cells. Ubiquitously expressed, UVRAG is found at highest levels in kidney, lung, liver and brain. UVRAG contains one C2 domain, which is thought to be involved in calcium-dependent phospholipid binding.

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GPR15 is a probable chemokine receptor,its expression has been reported in CD4(+) T lymphocytes, alveolar macrophages, and the basal surface of the small intestinal epithelium. ESTs have been isolated from normal brain and kidney cancer libraries.This gene encodes a G protein-coupled receptor that acts as a chemokine receptor for human immunodeficiency virus type 1 and 2. The encoded protein localizes to the cell membrane.

Supplier: Bioss

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. There have been at least 12 different PKC isoforms identified in humans to date including alpha, beta I, beta II, gamma, delta, epsilon, zeta, eta, theta, iota, lambda, and mu. PKC gamma is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14).

Supplier: Bioss

Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (By similarity).

Supplier: Bioss

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed.

Supplier: Bioss

Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets. Isoform eNOS13C: Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1.

Supplier: Bioss

SERPINI2 is a member of the serine protease inhibitor (serpin) superfamily made up of proteins which play central roles in the regulation of a wide variety of physiological processes, including coagulation, fibrinolysis, development, malignancy and inflammation. It may have a role in a growth-control, possibly growth-suppressing pathway and, when impaired, may be involved in pancreatic carcinogenesis. The protein is a member of the plasminogen activator inhibitor-1 family, a subset of the serpin superfamily whose members act as tissue-specific tPA inhibitors. Two alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene.

Supplier: Bioss

Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b) NBB complex (C5 convertase) in the alternative complement pathway.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatibility complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf120 gene product has been provisionally designated C6orf120 pending further characterization.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatibility complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf192 gene product has been provisionally designated C6orf192 pending further characterization.

Supplier: Bioss

SMARCD3, is a member of the SMARCD family and contains one SWIB domain. Two isoforms, isoform 1 and isoform 2 exist due to alternative splicing events. Both isoforms are expressed in placenta, salivary gland, kidney, brain, trachea, uterus, prostate, testis, thyroid, spleen and heart, while isoform 1 is also expressed in adipose tissue and skeletal muscle. Localizing to the nucleus, SMARCD3 is a component of the ATP-dependent chromatin remodeling complex SNF/SWI and is believed to play a role in nucleosome remodeling. SMARCD3 also plays an important role in the regulation of muscle development. In mice, the silencing of the gene en-coding SMARCD3 leads to defects in heart morphogenesis. In addition, both isoforms of SMARCD3 directly interact with and function as coactivators for several transcription factors.

Supplier: Bioss

Catalyzes the last step in the transsulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Defects in CTH are the cause of cystathioninuria (CSTNU). It is an autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion.

Supplier: Bioss

SMARCA6 gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis.

Supplier: Bioss

NET-6, also known as TSPAN13 (tetraspanin-13) or TM4SF13 (transmembrane 4 superfamily member 13), is a 204 amino acid multi-pass membrane protein that belongs to the tetraspanin (TM4SF) family. Members of the tetraspanin family are cell-surface proteins that are characterized by the presence of four hydrophobic domains and mediate signal transduction events that play a role in the regulation of cell development, activation, growth, motility, differentiation, and cancer. Considered molecular facilitators, tetraspanin proteins may regulate vesicle fusion and fission. The gene encoding NET-6 maps to human chromosome 7, which houses over 1000 genes, comprises nearly 5% of the human genome and has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.

Supplier: Bioss

The tripartite motif (TRIM) family of proteins are characterized by a conserved TRIM domain that includes a coiled-coil region, a B-box type zinc finger, one RING finger and three zinc-binding domains. TRIM8 (tripartite motif containing 8), also known as GERP (glioblastoma-expressed RING finger protein) or RNF27 (RING finger protein 27), is a 551 amino acid protein that is thought to function as an E3 ubiquitin-protein ligase that promotes SOCS-1 proteasomal degradation. As a widely expressed homodimer, TRIM8 localizes to nuclear bodies and contains two B box-type zinc fingers and one RING-type zinc finger. TRIM8 is expressed in lung, heart, brain and skeletal muscle, with low levels detected in intestine, placenta, leukocytes and liver. The gene encoding TRIM8 maps to human chromosome 10q24.32.

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TSPAN2 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. TSPAN2 may play a role in signaling in oligodendrocytes in the early stages of their terminal differentiation into myelin-forming glia and may also function in stabilizing the mature sheath.

Supplier: Bioss

Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity).

Supplier: Bioss

Polyadenylation of the 3-prime ends of eukaryotic mRNAs is a key event that takes place in the nucleus during maturation of mRNA. The reaction includes endoribonucleolytic cleavage of the pre-RNA at the poly(A) site that leads to synthesis of the poly(A) tail at the 3-prime end of the upstream cleavage product. The poly(A) polymerase (PAP) is required The adenosine addition reaction depends on poly(A) polymerase (PAP) activity. The testis express PAP-beta (TPAP) in the cytoplasm of spermatogenic cells. The adenosine addition function of PAP-beta plays a critical role in male germ cell production. PAP-beta-deficient transgenic mice display impaired expression of haploid-specific genes that are necessary for spermatogenesis. The intronless gene encoding human PAP-beta maps to chromosome 7p22.3.

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The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene.

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The myocyte enhancer factor-2 (MEF-2) family of transcription factors associate with co-repressors or co-activators to regulate development and function of T cells, neuronal cells, and muscle cells. Four family members, termed MEF-2A, -2B, -2C, and -2D, arise from alternatively spliced transcripts. These members bind as homo- and heterodimers to the MEF-2 site in the promoter region of affected genes. Differential regulation in the expression of the four transcripts implies functional distinction for each during embryogenesis and development. The process of differentiation from mesodermal precursor cells to myoblasts has led to the discovery of a variety of tissue-specific factors that regulate muscle gene expression. The myogenic basic helix-loop-helix proteins, including MyoD, myogenin, Myf-5, and MRF4, are one class of identified factors. The MEF-2 family represents a second class of DNA binding regulatory proteins. Each of these proteins binds to the MEF-2 target DNA sequence present in the regulatory regions of many muscle-specific genes.

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Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.

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Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis.

Supplier: Bioss

Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation by G-protein coupled receptors (GPCRs) ligands such as CXCL12, sphingosine 1-phosphate, and lysophosphatidic acid. May also act downstream receptor tyrosine kinases. Required in different signaling pathways for stable platelet adhesion and aggregation. Plays a role in platelet activation signaling triggered by GPCRs, alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) and ITAM (immunoreceptor tyrosine-based activation motif)-bearing receptors such as GP6. Regulates the strength of adhesion of ITGA2B/ ITGB3 activated receptors necessary for the cellular transmission of contractile forces. Required for platelet aggregation induced by F2 (thrombin) and thromboxane A2 (TXA2). Has a role in cell survival. May have a role in cell migration. Involved in the early stage of autophagosome formation. Modulates the intracellular level of PtdIns3P (Phosphatidylinositol 3-phosphate) and activates PIK3C3 kinase activity. May act as a scaffold, independently of its lipid kinase activity to positively regulate autophagy. May have a role in insulin signaling as scaffolding protein in which the lipid kinase activity is not required. May have a kinase-independent function in regulating cell proliferation and in clathrin-mediated endocytosis. Mediator of oncogenic signal in cell lines lacking PTEN. The lipid kinase activity is necessary for its role in oncogenic transformation. Required for the growth of ERBB2 and RAS driven tumors.

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RRBP1 (Ribosome-binding protein 1) acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.

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SERTA domain containing 2 (SERTAD2) acts at E2F-responsive promoters to integrate signals provided by PHD- and/or bromodomain-containing transcription factors.

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Get4 is a 327 amino acid cytoplasmic protein that exists as two alternatively spliced isoforms. Get4 forms a multiprotein complex, known as the BAT3 complex, with UBL4A, BAT3 and ARSA. The BAT3 complex plays a role in transporting tail-anchored membrane proteins to the endoplasmic reticulum membrane. The gene encoding Get4 maps to human chromosome 7p22.3. Human chromosome 7 houses over 1,000 genes, comprises nearly 5% of the human genome and has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond 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 characterized 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 C7orf26 gene product has been provisionally designated C7orf26 pending further characterization.