41251 Results for: "Iodic+acid&pageNo=67"

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This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].

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Cyclic AMP-dependent phosphodiesterase type D (PDE4D) family is comprise of 5 variants (PDE4D1, D2, D3, D4 and D5). One or more PDE4D subtype variants are ubiquitously present in all mammalian cells. In CNS all five PDE4D subtype variants are expressed in varying ratios and their activity is regulated in tandem with GPCRs stimulation. Peripheral tissues also exhibit differential expression of PDE4D variants. PDE4D1/D2 mRNA levels rise in response to an increase in cAMP. Short term regulation of PDE4D variants involved PKA, MAP kinases and Erk2 phosphorylation that results in rapid change in their enzymatic activities. Other regulatory mechanism involved protein protein interactions with cytoskeletal scaffolding proteins.

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Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).

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Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity).

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The v-Fos oncogene was initially identified as the transforming gene of two independent murine osteosarcoma virus isolates and an avian nephroblastoma virus. The cellular homolog, c-Fos, encodes a nuclear phosphoprotein that is rapidly and transiently induced by a variety of agents and functions as a transcriptional regulator for several genes. In contrast to c-Jun proteins, which form homo- and heterodimers which bind to specific DNA TPA response elements (TREs), c-Fos proteins are only active as heterodimers with members of the Jun gene family. Murine Fos B encodes a nuclear protein of 338 amino acids which has 70% homology with c-Fos, exhibits similar kinetics of expression as c-Fos and forms heterodimers with both c-Jun and Jun B which bind to TRE DNA response elements. Functional homologs of c-Fos and Fos B include Fra-1 and Fra-2 genes.

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Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate.Lactotransferrin has antimicrobial activity which depends on the extracellular cation concentration.Lactoferroxins A, B and C have opioid antagonist activity. Lactoferroxin A shows preference for mu-receptors, while lactoferroxin B and C have somewhat higher degrees of preference for kappa-receptors than for mu-receptors.The lactotransferrin transferrin-like domain 1 functions as a serine protease of the peptidase S60 family that cuts arginine rich regions. This function contributes to the antimicrobial activity.

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The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

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Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.

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AHNAK is a 5,890 amino acid protein encoded by the human gene AHNAK. The intronless AHNAK gene is located on human chromosome 11q12 and has three main structural regions: the 251 amino acid N-terminus, a large central region of 4390 amino acids with multiple repeated units of about 128 amino acids in length, and the 1002 amino acid C-terminus. The central region seems to have antiparallel beta-strands connected by intervening loops. Several putative regulatory elements are clustered within the C-terminal region, including nuclear export localization signals, a leucine zipper, and potential phosphorylation sites for Akt1 and PKC. AHNAK is believed to be an important signalling molecule involved in a wide range of physiological activities and may be required for neuronal cell differentiation.. AHNAK also appears to influence b-adrenergic regulation of cardiac L-type Ca2+ channel function.

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Retinoids are metabolites of vitamin A (retinal) and are believed to represent important signaling molecules during vertebrate development and tissue differentiation. Two families of retinoid receptors have been identified. Retinoic acid receptors (RARs) include RAR alpha, RAR beta and RAR gamma, each of which has a high affinity for all trans retinoic acids and belongs to the same class of nuclear transcription factors as thyroid hormone receptors, vitamin D3 receptor and ecdysone receptor. The ligand binding domains of the RARs are highly conserved and RAR isoforms are expressed in distinct patterns through out development and in the mature organism. Members of the retinoid X receptor (RXR) family, RXR alpha, RXR beta and RXR gamma, are activated by 9 cis retinoic acid, a stereo and photoisomer of all trans RA that is expressed in vivo in both liver and kidney and may represent a widely used hormone.

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Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

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Nuclear co-repressor 2 (N-CoR2) gene (NCOR2, previously called silencing mediator for retinoid and thyroid hormone receptor SMRT) is recruited to nuclear and non-nuclear receptors in a large repressing complex containing also N-CoR1, mSin3 and HDACs. This large complex represses transcription in absence of ligand. Mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Tissue specificity: Ubiquitous. It is belongs to the N-CoR nuclear receptor corepressors family.

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Apelin is a neuropeptide expressed in the supraoptic and paraventricular nuclei and is an endogenous ligand for APJ, a G protein-coupled orphan receptor which is an alternative coreceptor with CD4 for HIV-1. Apelin and APJ are ubiquitously expressed in peripheral tissues, with highest levels reported for heart and lungs, as well several regions within the central nervous system. The actions of apelin remain largely unknown: Apelin inhibits HIV-1 entry in cells coexpressing CD4 and APJ; the oral intake of Apelin in colostrum and breast milk could have a role in the modulation of the immune responses in neonates; more recent studies have also indicated a role for Apelin in the central control of body fluid homeostasis, by influencing AVP release and drinking behavior. In the cardiovascular system several actions of Apelin have been described, including endothelium-dependent vasodilatation, vasoconstriction through direct action on smooth muscle and positive inotropism.

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Gas2 is a 313 amino acid protein encoded by the human gene GAS2. Gas2 is thought to play a role in apoptosis by acting as a cell death substrate for caspases. Gas2, a component of the microfilament system, is cleaved by a caspase (caspase-3 and caspase-7) at Asparagine 278 during apoptosis. The cleaved form resulting from this dramatically induces the rearrangement of the Actin cytoskeleton and causes potent changes in the shape of the affected cells. Gas2 is believed to also be involved in the membrane ruffling process. During the G0-G1 transition phase Gas2 can be found phosphorylated on its serine residues. Gas2 is a cytoskeleton and peripheral membrane protein that co-localizes with Actin fibers at the cell border and along the stress fibers in growth-arrested fibroblasts. Gas2 is mainly membrane-associated but when hyperphosphorylated it will accumulate at membrane ruffles. Gas2 is specifically expressed at growth arrest and is ubiquitously expressed with highest levels found in liver, lung and kidney. There is no evidence, however, of Gas2 expression in spleen.

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alpha-methylacyl-CoA racemase(AMACR/P504S) is Prostate-specific antigen (PSA) screening for prostate cancer is now widespread in the United States among men of all ages. However PSA has limited specificity because benign disease, including prostatic enlargement and inflammation, can increase PSA levels. Thus, a more specific prostate cancer markers is needed. One such potential marker is AMACR, an enzyme that is involved in peroxisomal beta-oxidation of dietary branched-chain fatty acids. Recent studies have shown that, compared with expression in normal or benign prostate epithelium, AMACR is consistently overexpressed in prostate cancer epithelium, making it a specific marker for cancer cells within the prostate gland. Furthermore, overexpression of AMACR may increase the risk of prostate cancer because its expression is increased in premalignant lesions (prostatic intraepithelial neoplasia).

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Involved in adaptive response to hypoxia. Suppresses hypoxia-inducible expression of HIF1A and EPAS1. Binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters. The complex HIF3A-ARNT activates the transcription of reporter genes driven by HRE. Isoform 4 has a dominant-negative function of inactivating HIF1A-mediated transcription. Isoform 4 attenuates the binding of HIF1A to hypoxia-responsive elements (HRE), thus inhibiting HRE-driven transcription. Hypoxia induces down-regulation of isoform 4, leading to activation of HIF1A in hypoxia. Conversely, upon restoring normoxia, the expression of isoform 4 increases and thereby secure an inhibition of HIF1A activity. Isoform 4 may be a negative regulator of hypoxia-inducible gene expression in the kidney and may be involved in renal tumorigenesis. Functions as an inhibitor of angiogenesis in the cornea (By similarity).

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Auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand. Induces a robust stimulatory effect on the 3'-5' exonuclease and 3'-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA repair and DNA damage tolerance pathways. Acts as a loading platform to recruit DDR proteins that allow completion of DNA replication after DNA damage and promote postreplication repair: Monoubiquitinated PCNA leads to recruitment of translesion (TLS) polymerases, while 'Lys-63'-linked polyubiquitination of PCNA is involved in error-free pathway and employs recombination mechanisms to synthesize across the lesion.

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Alpha-1-antitrypsin is a protease inhibitor, deficiency of which is associated with emphysema and liver disease. The protein is encoded by a gene (PI) located on the distal long arm of chromosome 14.

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DUSP4 is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported.

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This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011].

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The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol.

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DNA repair proteins are necessary for the maintenance of chromosome integrity and are involved in the elimination of premutagenic lesions from DNA. The DNA repair proteins Rad51 and Rad52 are key components of the double-strand-break repair (DSBR) pathway. Rad51 is essential for mitotic and meiotic recombination, and its mutation in yeast and mammalian cells results in chromosome loss. Overexpression of Rad52 confers resistance to ionizing radiation and induces homologous intrachromosomal recombination. Rad52 is thought to be involved in an early stage of Rad51-mediated recombination. Additional proteins involved in the pathway include Nibrin and Dmc1. Nibrin, which complexes with Mre11 and Rad50, is absent in Nijemegen breakage syndrome (NBS) patients. Dmc1 is specifically involved in meiotic recombination. An alternative spliced form of Dmc1, designated Dmc1-D, is deleted for a region between the two motifs involved in nucleotide binding. The alternatively spliced Dmc1-D transcript is detected in both male and female germ cells, indicating that the encoded protein may have a role in mammalian genetic recombination in meiosis.

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G protein-coupled receptors (GPRs), also known as seven transmembrane receptors, heptahelical receptors or 7TM receptors, comprise a superfamily of proteins that play a role in many different stimulus-response pathways. G protein coupled receptors translate extracellular signals into intracellular signals (G protein activation) and they respond to a variety of signaling molecules, such as hormones and neurotransmitters. GPR101 (G protein-coupled receptor 101), also known as GPCR6, is a 508 amino acid multi-pass membrane protein that belongs to the G-protein coupled receptor 1 family. GPR101 functions as an orphan receptor that is thought to play a role in signaling events throughout the cell. Expressed predominantly in brain, GPR101 participates in a wide range of activities in the CNS via modulation of cAMP levels.

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L glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities.

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Fibulin proteins contribute to normal development of elastic fiber systems in various types of organs that require elasticity, such as vasculature, lung and skin. Fibulin-4, also known as EFEMP2 (EGF-containing fibulin-like extracellular matrix protein 2), MBP1 or UPH1 is a 443 amino acid secreted protein that contains six EGF-like calcium-binding domains and belongs to the fibulin family. Expressed ubiquitously with highest expression in heart, Fibulin-4 is essential for connective tissue development and elastic fiber formation, and may also play an important role in vascular patterning and collagen biosynthesis. Defects in the gene encoding Fibulin-4 are associated with autosomal recessive cutis laxa type I (CL type I), a connective tissue disorder that is inherited in both an autosomal dominant and an autosomal recessive manner and is characterized by inelastic tissue in all affected areas of the body.

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The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

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Putative adhesion molecule of myelomonocytic-derived cells that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Induces apoptosis in acute myeloid leukemia (in vitro).

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The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form.

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Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.

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Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.