127976 Results for: "Bioss"

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NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity).

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RNF113A is a novel gene whose function cannot directly be inferred from it's sequence analysis. Ring finger proteins have a role in signalling the destruction of a range of heterologous protein substrates. They are small zinc binding domains present within arrays of larger, functionally distinct proteins, often close to the amino or carboxyl termini. RNF113A is a ubiquitously expressed protein that contains a RING type zinc finger and a C3H1 type zinc finger.

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Glycosyltransferases that mediate the regio- and stereoselective transfer of sugars, such as the fucosyltransferases, determine cell surface-carbohydrate profiles, which are essential interfaces for biological recognition processes. Fucosyltransferases (FucTs) catalyze the covalent association of fucose to different positional linkages on sugar acceptor molecules. The carbohydrate moieties that are generated are covalently attached to cell surfaces and are necessary to ensure a surface contour that satisfies a variety of physiological roles. FucT-XI is a 492 amino acid single-pass type II membrane protein that belongs to the glycosyltransferase 10 family. Localizing to Golgi apparatus, FucT-XI may act as a fucosyltransferase and exists as two alternatively spliced isoforms. The gene encoding FucT-XI maps to mouse chromosome 14 A3.

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TIS11B is a member of the tristetraprolin family. Tristetraprolin (TTP), or TIS11, is a zinc-binding protein encoded by the immediate-early response gene, Zfp-36. TIS11B, a relative of TTP, localizes to the nucleus and may function as a transcription factor involved in regulating the growth factor response. It is an evolutionarily conserved protein containing two C3H1-type zinc fingers and a repeating cys-his motif. TIS11B is an mRNA binding protein and is known to interact with the 3’-untranslated region of VEGF mRNA, thereby decreasing its stability. This suggests that TIS11B is a potential target in antiangiogenic therapy. In addition, TIS11B may also be an important regulator of myogenesis, as its expression is upregulated during murine myoblast differentiation.

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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 histocompatiblity 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 C6orf163 gene product has been provisionally designated C6orf163 pending further characterisation.

Supplier: Bioss

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

Defects in SAMD9 are the cause of normophosphatemic familial tumoral calcinosis (NFTC). NFTC is an uncommon life-threatening disorder characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.

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This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq].

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This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene.

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Transcription factors, OTX1 and OTX2, are two murine homologs of the Drosophila orthodenticle (OTD), show a limited amino acid sequence divergence. OTX1 and OTX2 play an important role during early and later events required for proper brain development in that they are involved in the processes of induction, specification and regionalization of the brain. OTX1 is involved in corticogenesis, sensory organ development and pituitary functions, while OTX2 is necessary earlier in development, for the correct anterior neural plate specification and organization of the primitive streak. OTX2 is also required in the early specification of the neuroectoderm, which is destined to become the fore-midbrain, and both OTX1 and OTX2 co-operate in patterning the developing brain through a dosage-dependent mechanism. A molecular mechanism depending on a precise threshold of OTX proteins is necessary for the correct positioning of the isthmic region and for anterior brain patterning. The genes which encode OTX1 and OTX2 map to human chromosomes 2p13 and 14q21-q22, respectively.

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Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A.

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Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Appears be required for postnatal control of vascular regression in the eye. Required for posterior patterning of the epiblast during gastrulation.

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May be involved in neurite outgrowth.G protein-coupled receptors (GPCRs) represent a large superfamily of cell-surface receptors that are involved in a multitude of physiological processes such as perception of sensory information, modulation of synaptic transmission, hormone release/action, regulation of cell contraction/migration and cell growth/differentiation. GPCRs interact with G proteins (heterotrimeric GTPases) to synthesize intracellular second messengers, such as diacylglycerol, cyclic AMP, inositol phosphates and calcium ions. Their diverse biological functions range from vision and olfaction to neuronal and endocrine signaling, and are involved in many pathological conditions. GRIN3 (G protein-regulated inducer of neurite outgrowth 3), also known as GPRIN3, is a 776 amino acid protein that contains a C-terminal region which shares a high homology with GRIN2 and GRIN1, and may function in neurite outgrowth.

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Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Kr_ppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF532 is a 1301 amino acid nuclear protein that contains twelve C2H2-type zinc fingers. The gene encoding ZNF532 maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases, representing about 2.5% of total DNA in cells. There are a variety of diseases associated with defects in chromosome 18-localised genes, some of which include Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.

Supplier: Bioss

Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF532 is a 1301 amino acid nuclear protein that contains twelve C2H2-type zinc fingers. The gene encoding ZNF532 maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases, representing about 2.5% of total DNA in cells. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.

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TLE5 is a 197 amino acid nuclear protein that belongs to the TLE family. Expressed predominately in fetal brain, liver, lung, heart and kidney and in adult muscle, TLE5 functions as either a homooligomer or a heterooligomer with other TLE family members and, through this association, dominantly represses the expression of TLE genes. In addition, TLE5 can repress NFkB-regulated gene expression and is thought to play an important role in initiating and maintaining cell differentiation events. Two isoforms of TLE5 exist due to alternative splicing events.

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Dyrk (for dual specificity tyrosine phosphorylation regulated kinase) is the homolog of the Drosophila mnb (minibrain) gene, which is required for neurogenesis. Dyrk is a dual-specificity tyrosine kinase and serine/threonine kinase, which is itself regulated by tyrosine phosphorylation. Several mammalian Dyrk related proteins have been identified and are thought to compose a family of dual specificity protein kinases. Dyrk family members, including Dyrk1A (originally Dyrk), Dyrk1B, Dyrk1C, Dyrk2, Dyrk3, Dyrk4A and Dyrk4B, are thought to be involved in diverse cellular functions. Two isoforms of human fetal brain Dyrk2 exist: a deduced 528-amino acid protein and a protein containing 73 additional amino acids at the amino terminus. Dyrk3 is strongly expressed in testis, only after the onset of spermatogenesis, and very weakly expressed in spleen and adrenal gland. The genes which encode Dyrk2 and Dyrk3 map to human chromosomes 12 and 1q32, respectively.

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MIB1 is a 1006 amino acid E3 ubiquitin ligase that activates the Notch ligand, Delta. MIB1 ubiquinates Delta by binding to its intracellular domain, leading to the endocytosis and eventual degradation of the Delta receptor, which, paradoxically, results in the up-regulation of receptor activity and enhances Notch Signalling. MIB1 also interacts with DAPK, a protein that plays an important role in the regulation of apoptosis. Ubiquination of DAPK leads to inhibition of caspase-dependent apoptosis, therefore it is likely that overexpression of MIB1 can lead to tumour growth. Although it seems to be widely expressed at low levels, MIB1 is expressed at highest concentrations in the CNS and ovary. Both DAPK and MIB1 are overexpressed in epileptic brain tissue, suggesting that they probably cooperate as regulators of neuronal death in epilepsy.

Supplier: Bioss

Dyrk (for dual specificity tyrosine phosphorylation regulated kinase) is the homolog of the Drosophila mnb (minibrain) gene, which is required for neurogenesis. Dyrk is a dual-specificity tyrosine kinase and serine/threonine kinase, which is itself regulated by tyrosine phosphorylation. Several mammalian Dyrk related proteins have been identified and are thought to compose a family of dual specificity protein kinases. Dyrk family members, including Dyrk1A (originally Dyrk), Dyrk1B, Dyrk1C, Dyrk2, Dyrk3, Dyrk4A and Dyrk4B, are thought to be involved in diverse cellular functions. Two isoforms of human fetal brain Dyrk2 exist: a deduced 528-amino acid protein and a protein containing 73 additional amino acids at the amino terminus. Dyrk3 is strongly expressed in testis, only after the onset of spermatogenesis, and very weakly expressed in spleen and adrenal gland. The genes which encode Dyrk2 and Dyrk3 map to human chromosomes 12 and 1q32, respectively.

Supplier: Bioss

MIB1 is a 1006 amino acid E3 ubiquitin ligase that activates the Notch ligand, Delta. MIB1 ubiquinates Delta by binding to its intracellular domain, leading to the endocytosis and eventual degradation of the Delta receptor, which, paradoxically, results in the up-regulation of receptor activity and enhances Notch signaling. MIB1 also interacts with DAPK, a protein that plays an important role in the regulation of apoptosis. Ubiquination of DAPK leads to inhibition of caspase-dependent apoptosis, therefore it is likely that overexpression of MIB1 can lead to tumor growth. Although it seems to be widely expressed at low levels, MIB1 is expressed at highest concentrations in the CNS and ovary. Both DAPK and MIB1 are overexpressed in epileptic brain tissue, suggesting that they probably cooperate as regulators of neuronal death in epilepsy.

Supplier: Bioss

CARF was first cloned as a novel binding partner of ARF from a yeast interactive screen. CARF and ARF colocalize in the perinucleolar region and have a collaborative function. In the nucleoplasm, CARF interacts with p53 and enhances its function. The p53 downregulates CARF in a negative feedback regulatory loop and may also involve p53 antagonist HDM2.

Supplier: Bioss

E6-associating protein is a component of the ubiquitin-mediated proteolytic pathway, which selectively targets proteins for degradation by the 26S proteasome. Ubiquitin (Ub) is directly conjugated to protein substrates by the transfer of Ub from an E2 ubiquitin conjugating enzyme to the target protein. This conjugation is facilitated by the enzymatic activity of E3 ubiquitin ligase family members such as E6-AP. Several substrates of E6-AP have been identified and include the tumor suppressor protein p53 and the mammalian homolog of Rad23, HHR23A. Previous studies have indicated that E6-AP associates with the human papillomavirus E6 oncogene, which complexes with p53 and thereby potentiates E6-AP mediated ubiquitination of p53. Genetic mutations that impair E6-AP activity result in the accumulation of p53 in the cytoplasm, and, in many instances, these mutations are associated with the development of the rare neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe motor dysfunction and mental retardation.

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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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].

Supplier: Bioss

E6-associating protein is a component of the ubiquitin-mediated proteolytic pathway, which selectively targets proteins for degradation by the 26S proteasome. Ubiquitin (Ub) is directly conjugated to protein substrates by the transfer of Ub from an E2 ubiquitin conjugating enzyme to the target protein. This conjugation is facilitated by the enzymatic activity of E3 ubiquitin ligase family members such as E6-AP. Several substrates of E6-AP have been identified and include the tumor suppressor protein p53 and the mammalian homolog of Rad23, HHR23A. Previous studies have indicated that E6-AP associates with the human papillomavirus E6 oncogene, which complexes with p53 and thereby potentiates E6-AP mediated ubiquitination of p53. Genetic mutations that impair E6-AP activity result in the accumulation of p53 in the cytoplasm, and, in many instances, these mutations are associated with the development of the rare neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe motor dysfunction and mental retardation.

Supplier: Bioss

CARF was first cloned as a novel binding partner of ARF from a yeast interactive screen. CARF and ARF colocalize in the perinucleolar region and have a collaborative function. In the nucleoplasm, CARF interacts with p53 and enhances its function. The p53 downregulates CARF in a negative feedback regulatory loop and may also involve p53 antagonist HDM2.

Supplier: Bioss

CARF was first cloned as a novel binding partner of ARF from a yeast interactive screen. CARF and ARF colocalize in the perinucleolar region and have a collaborative function. In the nucleoplasm, CARF interacts with p53 and enhances its function. The p53 downregulates CARF in a negative feedback regulatory loop and may also involve p53 antagonist HDM2.

Supplier: Bioss

Twinkle, also known as PEO1 (Progressive external ophthalmoplegia 1 protein), PEOA3, SANDO or TWINL, is a mitochondrial protein that functions as a 5’-3’ nucleotide-dependent DNA helicase. Colocalized with mtDNA (mitochondrial DNA) in mitochondrial nucleoids, Twinkle is important in the metabolism and maintenance of mtDNA, playing a crucial role in the regulation of mtDNA copy numbers. Twinkle is expressed at high levels in testis, pancreas and skeletal muscle and exists as three isoforms due to alternative splicing events. Defects in the gene encoding Twinkle are the cause of two conditions: progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 3 (PEOA3) and sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO). PEOA3 is characterized by ptosis and weak muscles, while SANDO is characterized by ophthalmoparesis, dysarthria and sensory ataxic neuropathies.

Supplier: Bioss

CARF was first cloned as a novel binding partner of ARF from a yeast interactive screen. CARF and ARF colocalize in the perinucleolar region and have a collaborative function. In the nucleoplasm, CARF interacts with p53 and enhances its function. The p53 downregulates CARF in a negative feedback regulatory loop and may also involve p53 antagonist HDM2.

Supplier: Bioss

Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein(APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq].

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This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant, and recessive forms of nephrogenic diabetes insipidus.