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May be an adhesion-like molecule with anti-protease activity.

Supplier: Bioss

Glutamate receptors mediate most excitatory neurotransmission in the brain and play an important role in neural plasticity, neural development and neurodegeneration. Ionotropic glutamate receptors are categorized into NMDA receptors and kainate/AMPA receptors, both of which contain glutamate-gated, cation-specific ion channels. Kainate/AMPA receptors are co-localized with NMDA receptors in many synapses and consist of seven structurally related subunits designated GluR-1 to -7. The kainate/AMPA receptors are primarily responsible for fast excitatory neurotransmission by glutamate, whereas the NMDA receptors exhibit slow kinetics of Ca2+ ions and a high permeability for Ca2+ ions.

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Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88-independent pathway and the TLR-activated, MyD88-dependent pathway. Required during both the early and late phases of the IFN gene induction but is more critical for the late than for the early phase. Exists in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, becomes phosphorylated by IKBKE and TBK1 kinases. This induces a conformational change, leading to its dimerization and nuclear localization where along with other coactivators it can activate transcription of the type I IFN and ISG genes. Can also play a role in regulating adaptive immune responses by inducing PSMB9/LMP2 expression, either directly or through induction of IRF1. Binds to the Q promoter (Qp) of EBV nuclear antigen 1 a (EBNA1) and may play a role in the regulation of EBV latency. Can activate distinct gene expression programs in macrophages and regulate the anti-tumor properties of primary macrophages.

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Carboxypeptidase A (CPA) is a pancreatic exopeptidase which hydrolyses the peptide bond adjacent to the C-terminal end in polypeptide chains. Mast cell carboxypeptidase A (MC-CPA), a part of the peptidase M14 family, is a highly conserved metalloprotease localized to the secretory granules, along with trytases and chymases. MC-CPA is stored as an active enzyme in the granule and is released, along with other inflammatory mediators, upon mast cell degranulation. MC-CPA mirrors pancreatic carboxypeptidase A in cleaving COOH-terminal aromatic and aliphatic amino acid residues. The optimum pH of MC-CPA is between neutral and basic, depending upon the substrate. The MC-CPA gene, CPA3, resides on chromosome 3 and contains 11 exons.

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Protein kinases are enzymes that transfer a phosphate group from a phosphate donor onto an acceptor amino acid in a substrate protein. By this basic mechanism, protein kinases mediate most of the signal transduction in eukaryotic cells, regulating cellular metabolism, transcription, cell cycle progression, cytoskeletal rearrangement and cell movement, apoptosis, and differentiation. The protein kinase family is one of the largest families of proteins in eukaryotes, classified in 8 major groups based on sequence comparison of their tyrosine (PTK) or serine/threonine (STK) kinase catalytic domains. Epidermal Growth factor receptor (EGFR) is the prototype member of the type 1 receptor tyrosine kinases. EGFR overexpression in tumors indicates poor prognosis and is observed in tumors of the head and neck, brain, bladder, stomach, breast, lung, endometrium, cervix, vulva, ovary, esophagus, stomach and in squamous cell carcinoma.

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Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of ADD1, BRCA2, CNN1, EZR, DPYSL2, EP3, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM. Phosphorylates SORL1 and IRF4. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Positively regulates the activation of p42/MAPK1-p44/MAPK3 and of p9RSK/RPS6KA1 during myogenic differentiation. Plays an important role in the timely initiation of centrosome duplication. Inhibits keratinocyte terminal differentiation. May regulate closure of the eyelids and ventral body wall through organization of actomyosin bundles. Plays a critical role in the regulation of spine and synaptic properties in the hippocampus. Plays an important role in generating the circadian rhythm of the aortic myofilament Ca(2+) sensitivity and vascular contractility by modulating the myosin light chain phosphorylation.

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Required during spermatogenesis for sperm head elongation and acrosome formation.

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The organic anion transporter family of proteins mediate hepatic uptake of cardiac glycosides. OATP-D is a 710 amino acid member of the organic anion transporter protein family. As a multi-pass membrane protein, OATP-D mediates the Na+-independent transport of vasopressin, prostaglandins (PG) E1 and E2, thyroxine (T4), deltorphin II and other organic anions, but not estrone-3-sulfate, DPDPE, taurocholate, DHEAS or digoxin. OATP-D is ubiquitously expressed with highest levels present in leukocytes and spleen. OATP-D is expressed as four isoforms produced by alternative splicing events.

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Neuropeptides are regulators of synaptic transmission and their effects are mediated by G-protein coupled receptors. NPS (Neuropeptide S) is a 20 amino acid peptide cleaved from a larger precursor that contains a hydrophobic signal peptide and proteolytic cleavage processing sites. The N-terminal residue of NPS is always a serine regardless of the species. NPS is predominantly found in the central nervous system and plays an important role regulating sleep/wake functions, locomotion, arousal/anxiety responses and food intake. NPS functions by binding and activating its receptor, NPSR, and increasing intracellular calcium levels thereby acting as an excitatory transmitter. In addition, NPS stimulates the hypothalamo-pituitary adrenal (HPA) axis via the release of corticotropin-releasing factor (CRF) and arginine vasopressin (AVP). NPS and its receptor NPSR may also play a role in asthma pathogenesis.

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H2BFWT (H2B histone family member W testis-specific) is a 175 amino acid nuclear membrane histone that belongs to the histone H2B family. In contrast to most H2B histones, H2BFWT does not contain the conserved C-terminal residue involved in monoubiquitination, but is structurally indistinguishable from conventional H2B histones. Also varying from other H2B histones, H2BFWT does not participate in the recruitment of chromosome condensation factors or in the assembly of mitotic chromsomes. Expressed in testis, H2BFWT is present in sperm cells and may be essential to telomere function.

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Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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Sauvagine is a 40-residue peptide isolated and characterized from frog skin. It shares significant structural homology with and elicits similar biological responses as corticotropin-releasing factor (CRF). It has high affinity for both the CRF1 and CRF2 receptors (and low affinity for the CRF binding protein), suggesting its potential as a pharmacological tool for the study of these receptor sub-types. Due to the binding to CRF2 receptors and their role in the release of ACTH and beta-endorphin during stress, possible areas of research with this ligand include anxiety, depression and obesity.

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The transcriptional enhancer factor-1 (TEF-1) family of transcription factors regulate tissue-specific gene expression in muscle and placenta. The mechanism whereby TEF-1 confers tissue specificity depends largely on the interaction of TEF-1 with tissue-specific cofactors. Transcription cofactor Vgl-3 (vestigial-like protein 3), also known as colon carcinoma related protein, is a 326 amino acid nuclear protein that may act as a specific coactivator for the mammalian transcription elongation factors. Both Vgl-1 and Vgl-3 are enriched in placenta, whereas Vgl-2 is expressed in differentiating somites and branchial arches during embryogenesis and is skeletal-muscle specific in adult tissues. There are two isoforms of Vgl-3 that are produced as a result of alternative splicing events.

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Melanoma-associated antigen (MAGE) are completely silent in normal tissues, with the exception of male germ cells, and, for some of them, placenta. These antigens ought to be strictly tumor specific, expressed in tumor cells of various histological types. Because of their specific expression on tumor cells, these antigens are of particular interest for antitumor immunotherapy. Genes of the MAGE family direct the expression of tumor antigens that are recognized on a human melanoma by autologous cytolytic T lymphocytes. Though the function of MAGE is unknown, may play a role in embryonal development and tumor transformation or aspects of tumor progression.

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The Drosophila hairy and Enhancer of split genes encode basic helix-loop-helix (bHLH) transcriptional repressors that function in the Notch signaling pathway and control segmentation and neural development during embryogenesis. The mammalian homologues of Drosophila hairy and Enhancer of split are the HES gene family members, HES1-6, which also encode bHLH transcriptional repressors that regulate myogenesis and neurogenesis. The HES family members form a complex with TLE, the mammalian homologue of Groucho, and this interaction is mediated by the carboxy terminal WRPW motif of the HES proteins. The HES/TLE complex functions by directly binding to DNA, instead of interfering with activator proteins. Most HES family members, including HES1 and HES5, preferentially bind to the N box (CACNAG) as opposed to the E box (CANNTG). HES2 binds to both N and E box sites, while HES6 does not bind DNA. Rather, HES6 inhibits HES1 activity, thereby promoting transcription. HES1 and HES2 are expressed in a variety of adult and embryonic tissues. HES3 is expressed exclusively in cerebellar Purkinje cells, and HES5 is found solely in the nervous system. HES6 is produced in brain as well as in the limb buds of developing embryos.

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Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at 'Ser-9' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at 'Ser-1798', which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4).

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Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate. Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity).

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Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins. Necessary for activation of the CDC28 kinase.

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May be involved in transcriptional regulation.

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Plectin interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the crosslinking and stabilization of cytoskeletal intermediate filaments network, but also in the regulation of their dynamics.

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The tetraspanin family is a group of cell surface proteins that regulate cell development, activation, growth and motility. Each member contains four hydrophobic domains and participates in the mediation of signal transduction. NET-5, also known as TSPAN9 (tetraspanin 9), is a 239 amino acid multi-pass membrane protein that belongs to the tetraspanin (TM4SF) family. NET-5 forms a complex with GPVI in the tetraspanin microdomains on the platelet surface, and is encoded by a gene that maps to human chromosome 12p13.33. Chromosome 12 encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.

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KCNC1 mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. It forms a heteromultimer with KCNG3, KCNG4 and KCNV2.

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STARD5, or START domain containing 5, belongs to a family containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain. STARD5 may be involved in the intracellular transport of sterols or other lipids and may bind cholesterol or other sterols.

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CDC-like kinase 2 (CLK2) belongs to a family of autophosphorylating kinases termed CLK (CDC2/CDC28-like kinases), which have been shown to phosphorylate serine- and arginine-rich (SR) proteins of the spliceosomal complex, and to influence alternative splicing in overexpression systems. Recent findings demonstrated that the CLK kinases activate PTP-1B family members, and this phosphatase may be an important cellular target for CLK action. Mutations in the CLK2 proteins affect organismal features such as development, behavior, reproduction, and aging as well as cellular features such as the cell cycle, apoptosis, the DNA replication checkpoint, and telomere length.

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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 characterised 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 C7orf64 gene product has been provisionally designated C7orf64 pending further characterisation.

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Forms a high-affinity link between the actin cytoskeleton and the membrane. Isoform 1 (archvillin) is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation. Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function. Isoform 2 may be involved in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adhesions involves binding to TRIP6. Plays a role in cytokinesis through KIF14 interaction (By similarity).

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Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate(AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, Gria1-4. The subunit encoded by this gene (Gria2) is subject to RNA editing(CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene.

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FBXO4 is a substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. It probably recognizes and binds to phosphorylated target proteins. It recognizes TERF1 and promotes its ubiquitination together with UBE2D1.

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Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, PFN1 and PPP1R12A. Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing. Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induced stress. Acts as a suppressor of inflammatory cell migration by regulating PTEN phosphorylation and stability. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Required for centrosome positioning and centrosome-dependent exit from mitosis. Plays a role in terminal erythroid differentiation. May regulate closure of the eyelids and ventral body wall by inducing the assembly of actomyosin bundles. Promotes keratinocyte terminal differentiation. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization.

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The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008].