44243 Results for: "Bioss"

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Members of the EF-CBP (N-terminal EF-hand calcium binding protein)/NECAB (neuronal calcium-binding protein) family participate in neuronal calcium signaling. EF-CBP2, also known as NECAB2 (N-terminal EF-hand calcium binding protein 2), neuronal calcium-binding protein 2 or synaptotagmin-interacting protein 2 (Stip-2), is a 386 amino acid cytoplasmic protein that contains one antibiotic biosynthesis monooxygenase (ABM) domain and two EF-hand domains. Expressed in brain, EF-CBP2 is suggested to bind metabotropic glutamate receptor 5 (mGluR-5) in a calcium-regulated manner. The gene encoding EF-CBP2 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.

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Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. alternatively splicing events.

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The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), also known as LINX (leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein), is a 745 amino acid single-pass membrane protein that contains five LRR repeats, one Ig-like (immunoglobulin-like) domain, a LRRCT domain and one LRRNT domain. ISLR2 exists as a homomultimer and is essential for axon extension during neural development. The gene encoding ISLR2 maps to human chromosome 15q24.1.

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Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. May act as a tumor suppressor.

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Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. May act as a tumor suppressor.

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Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. May act as a tumor suppressor.

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Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression.

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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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The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle.

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Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle.

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E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8.

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E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8.

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Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013].

Supplier: Bioss

Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013].

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Enzymes known as phosphatidylserine decarboxylases (PSDs) catalyze the formation of phosphatidylethanolamine from phosphatidylserine via phosphatidylserine decarboxylation. Type I PSDs contain LGST motifs and are found in bacteria and eukaryotic mitochondria, whereas type II PSDs contain GGST motifs and are found in eukaryotic endomembrane systems. PISD (phosphatidylserine decarboxylase), also known as phosphatidylserine decarboxylase proenzyme, PSDC, PSD, PSSC, DJ858B16, dJ858B16.2 or DKFZp566G2246, is a 408 amino acid a type I phosphatidylserine decarboxylase that localizes to the inner mitochondrial membrane. PISD contains a conserved LGST motif which is cleaved to produce two isoforms known as PISD α and PISD β. PISD is capable of forming a heterodimer and is highly expressed in liver and testis. The gene encoding PISD maps to human chromosome 22q12.2.

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Members of the BAGE gene family encode antigens that are recognized by cytotoxic T lymphocytes and are also known as CT (cancer/testis) antigens. Generated by juxtacentromeric shuffling of the MLL3 gene, the ancestral BAGE gene was expanded by acrocentric exchanges and/or juxtacentromeric movements. BAGE, also known as B melanoma antigen 1 or cancer/testis antigen 2.1, is a 43 amino acid member of the BAGE family. Generally, BAGE proteins are not expressed in normal tissues, except in testis, but are expressed highly in melanomas, bladder carcinomas, head and neck squamous cell carcinomas, and lung and breast cancer carcinomas. BAGE proteins are not expressed in renal, colorectal and prostatic carcinomas, leukemias and lymphomas.

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Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity).

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The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), also known as LINX (leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein), is a 745 amino acid single-pass membrane protein that contains five LRR repeats, one Ig-like (immunoglobulin-like) domain, a LRRCT domain and one LRRNT domain. ISLR2 exists as a homomultimer and is essential for axon extension during neural development. The gene encoding ISLR2 maps to human chromosome 15q24.1.

Supplier: Bioss

The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), also known as LINX (leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein), is a 745 amino acid single-pass membrane protein that contains five LRR repeats, one Ig-like (immunoglobulin-like) domain, a LRRCT domain and one LRRNT domain. ISLR2 exists as a homomultimer and is essential for axon extension during neural development. The gene encoding ISLR2 maps to human chromosome 15q24.1.

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. ZSWIM3 (Zinc finger SWIM domain-containing protein 3) is a 696 amino acid protein that contains one SWIM-type zinc finger. SWIM domains are found in a variety of eukaryotic and prokaryotic proteins and are thought to be critical for certain ubiquitination reactions. The gene encoding ZSWIM3 maps to human chromosome 20, which contains nearly 63 million bases that encode over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome.

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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. ZSWIM3 (Zinc finger SWIM domain-containing protein 3) is a 696 amino acid protein that contains one SWIM-type zinc finger. SWIM domains are found in a variety of eukaryotic and prokaryotic proteins and are thought to be critical for certain ubiquitination reactions. The gene encoding ZSWIM3 maps to human chromosome 20, which contains nearly 63 million bases that encode over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome.

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The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].

Supplier: Bioss

The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].

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Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent-specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). Also activated by a fast intracellular Ca(2+) increase in response to inositol 1,4,5-triphosphate-producing receptor agonists. The channel is blocked by extracellular acidification. External acidification has 2 effects, a fast reversible block of the current and a slower irreversible enhancement of current inactivation. Is a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. Heat activation is due to a shift of the voltage-dependent activation curve to negative potentials. Activated by arachidonic acid in vitro. May be involved in perception of bitter, sweet and umami tastes. May also be involved in sensing semiochemicals.

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Ig (immunoglobulin) superfamily members exhibit functional characteristics including immune responses, growth factor signaling and cell adhesion. IGSF10 (immunoglobulin superfamily, member 10), also known as Calvaria mechanical force protein 608 (CMF608), is a 2,623 amino acid secreted protein that contains an N-terminal signal peptide, six leucine-rich repeats (LRRs), and 12 immunoglobulin-like repeats. IGSF10 exists as multiple alternatively spliced isoforms, and is expressed in bone. Specifically, expression of IGSF10 is limited to mesenchymal osteochondroprogenitors with fibroblast-like morphology, where it is thought to be involved in the maintenance of the osteochondroprogenitor cells pool and its down-regulation precedes terminal differentiation. The gene encoding IGSF10 maps to chromosome 3, which comprises over 1,100 genes that include a chemokine receptor gene cluster as well as a variety of human cancer related loci.

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Ig (immunoglobulin) superfamily members exhibit functional characteristics including immune responses, growth factor signaling and cell adhesion. IGSF10 (immunoglobulin superfamily, member 10), also known as Calvaria mechanical force protein 608 (CMF608), is a 2,623 amino acid secreted protein that contains an N-terminal signal peptide, six leucine-rich repeats (LRRs), and 12 immunoglobulin-like repeats. IGSF10 exists as multiple alternatively spliced isoforms, and is expressed in bone. Specifically, expression of IGSF10 is limited to mesenchymal osteochondroprogenitors with fibroblast-like morphology, where it is thought to be involved in the maintenance of the osteochondroprogenitor cells pool and its down-regulation precedes terminal differentiation. The gene encoding IGSF10 maps to chromosome 3, which comprises over 1,100 genes that include a chemokine receptor gene cluster as well as a variety of human cancer related loci.

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RNF166

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RNF166

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RNF166