"Bioss"

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The Crk-I and Crk-II forms differ in their biological activities. Crk-II has less transforming activity than Crk-I. Crk-II mediates attachment-induced MAPK8 activation, membrane ruffling and cell motility in a Rac-dependent manner. Involved in phagocytosis of apoptotic cells and cell motility via its interaction with DOCK1 and DOCK4. May regulate the EFNA5-EPHA3 signaling.

Supplier: Bioss

The TRIAD3 gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known.

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Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells.

Supplier: Bioss

Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses

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This gene encodes a member of the epidermal growth factor(EGF) repeat superfamily. Members of this superfamily arecharacterized by the presence of EGF-like repeats and are ofteninvolved in the regulation of cell cycle, proliferation, anddevelopmental processes. The gene product contains a signalpeptide, suggesting that it is secreted; an EGF repeat regionconsisting of 4 complete EGF-like repeats and 1 partial EGF-likerepeat, 3 of which have a calcium-binding consensus sequence; anarg-gly-asp integrin association motif; and a MAM domain, which isbelieved to have an adhesive function. This gene is expressed earlyduring development, and its expression has been detected in lungand meningioma tumors. [provided by RefSeq, Jul 2008].

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Emx1 and Emx2 are human homologs to the Drosophila developmental genes empty spiracles expressed in anterior body regions during early Drosophila embryogenesis. Emx1 and Emx2 are homeobox proteins expressed in the developing vertebrate brain. Emx2 is expressed in the dorsal telencephalon and small diencephalic regions, while Emx1 expression is exclusively confined to pyramidal neurons of the dorsal telencephalon. In the embryonic brain, Emx1 is expressed in both proliferating and differentiating neurons while Emx2 is expressed only in proliferating neurons. OTX1 and OTX2 are human homologs of the Drosophila developmental genes orthodenticle. In development, the sequence of expression begins with OTX2 at day ten post coitum followed by OTX1, Emx2 and finally Emx1. The genes encoding human Emx1 and Emx2 map to chromosomes 2p13.2 and 10q26.11, respectively.

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May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells.

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SPAG17 (sperm associated antigen 17), also known as PF6, is a 2,223 amino acid cytoplamic protein that colocalizes with SPAG6 to microtubles. Highly expressed in testis and in organs that contain cilia-bearing cells including brain, oviduct, lung, and uterus, SPAG17 may be important for the structural integrity of the central apparatus of the sperm axoneme. SPAG17 contains two LRR (leucine-rich) repeats and may also participate in flagellar motility and male fertility.

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N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate-gated ion channels. These receptors have been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C) and NMDAR2D (GRIN2D). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

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RINT1 is involved in the regulation of membrane traffic between the golgi and the endoplasmic reticulum. It may play a role in cell cycle checkpoint control and is essential for telomere length control.

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DYX2 is a 1072 amino acid single-pass transmembrane protein that contains one MANSC domain and two PKD (Polycystic Kidney Disease) domains, which are usually found in the extracellular regions of proteins and are involved in protein-protein interactions. In DYX2, it is likely that its PKD domains mediate the interaction between neurons and glial fibers during neuronal migration. When overexpressed, this plasma membrane protein colocalizes with EEA1 (early endosome antigen 1) in large intracellular vesicles, suggesting that it is endocytosed and recycled. DYX2 is highly expressed in brain cortex, cerebellum, amygdala, putamen and hippocampus. Defects in the gene encoding DYX2 may be the cause of dyslexia type 2, a relatively common disorder that is characterized by reading performance impairment in the absence of sensory or neurologic disability. There are three isoforms of DYX2 that are produced as a result of alternative splicing events

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The alpha-V integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.

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May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I.The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis.

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GCSH is a 173 amino acid mitochondrial protein that contains one lipoyl-binding domain and belongs to the gcvH family. Defects in the gene encoding GCSH are the cause of glycine encephalopathy (GCE), an autosomal recessive disease that is also referred to as non-ketotic hyperglycinemia (NKH). Characterized by severe neurological symptoms, patients with GCE have a large amount of glycine accumulated in their body fluids. The gene encoding GCSH maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome.

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Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies.

Supplier: Bioss

Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation.