Nitric oxide synthase 1 adaptor protein (NOS1AP) also known as carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (CAPON) is a protein that in humans is encoded by the NOS1APgene.[3][4][5]
This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminalPDZ-binding domain that mediates interactions with nNOS and an N-terminalphosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins.[5] NOS1AP polymorphisms has been associated with the QT interval length.[6]
^ abcGRCh38: Ensembl release 89: ENSG00000198929 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Seki N, Ohira M, Nagase T, Ishikawa K, Miyajima N, Nakajima D, Nomura N, Ohara O (February 1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345–9. doi:10.1093/dnares/4.5.345. PMID 9455484. S2CID 263410587.
^ abJaffrey SR, Snowman AM, Eliasson MJ, Cohen NA, Snyder SH (Mar 1998). "CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95". Neuron. 20 (1): 115–24. doi:10.1016/S0896-6273(00)80439-0. PMID 9459447. S2CID 14613261.
^Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, West K, Kashuk C, Akyol M, Perz S, Jalilzadeh S, Illig T, Gieger C, Guo CY, Larson MG, Wichmann HE, Marbán E, O'Donnell CJ, Hirschhorn JN, Kääb S, Spooner PM, Meitinger T, Chakravarti A (2006). "A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization". Nat. Genet. 38 (6): 644–51. doi:10.1038/ng1790. PMID 16648850. S2CID 12942685.
^ abGotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA, Stockinger W, Nimpf J, Herz J (August 2000). "Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction". J. Biol. Chem. 275 (33): 25616–24. doi:10.1074/jbc.M000955200. PMID 10827173.
^Fang M, Jaffrey SR, Sawa A, Ye K, Luo X, Snyder SH (October 2000). "Dexras1: a G protein specifically coupled to neuronal nitric oxide synthase via CAPON". Neuron. 28 (1): 183–93. doi:10.1016/S0896-6273(00)00095-7. PMID 11086993. S2CID 10533464.
^Jaffrey SR, Benfenati F, Snowman AM, Czernik AJ, Snyder SH (March 2002). "Neuronal nitric-oxide synthase localization mediated by a ternary complex with synapsin and CAPON". Proc. Natl. Acad. Sci. U.S.A. 99 (5): 3199–204. Bibcode:2002PNAS...99.3199J. doi:10.1073/pnas.261705799. PMC122496. PMID 11867766.
Further readingedit
Gotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA, Stockinger W, Nimpf J, Herz J (2000). "Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction". J. Biol. Chem. 275 (33): 25616–24. doi:10.1074/jbc.M000955200. PMID 10827173.
Hartley JL, Temple GF, Brasch MA (2000). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC310948. PMID 11076863.
Zheng Y, Li H, Qin W, Chen W, Duan Y, Xiao Y, Li C, Zhang J, Li X, Feng G, He L (2005). "Association of the carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase gene with schizophrenia in the Chinese Han population". Biochem. Biophys. Res. Commun. 328 (4): 809–15. doi:10.1016/j.bbrc.2005.01.037. PMID 15707951.
Xu B, Wratten N, Charych EI, Buyske S, Firestein BL, Brzustowicz LM (2005). "Increased expression in dorsolateral prefrontal cortex of CAPON in schizophrenia and bipolar disorder". PLOS Med. 2 (10): e263. doi:10.1371/journal.pmed.0020263. PMC1201690. PMID 16146415.
Puri V, McQuillin A, Thirumalai S, Lawrence J, Krasucki R, Choudhury K, Datta S, Kerwin S, Quested D, Bass N, Pimm J, Lamb G, Moorey H, Kandasami G, Badacsonyi A, Kelly K, Morgan J, Punukollu B, Nadeem H, Curtis D, Gurling HM (2006). "Failure to confirm allelic association between markers at the CAPON gene locus and schizophrenia in a British sample". Biol. Psychiatry. 59 (2): 195–7. doi:10.1016/j.biopsych.2005.08.015. PMID 16202394. S2CID 29114143.
Post W, Shen H, Damcott C, Arking DE, Kao WH, Sack PA, Ryan KA, Chakravarti A, Mitchell BD, Shuldiner AR (2007). "Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish". Hum. Hered. 64 (4): 214–9. doi:10.1159/000103630. PMC2880727. PMID 17565224.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
nos1ap, nitric, oxide, synthase, adaptor, protein, also, known, carboxyl, terminal, ligand, neuronal, nitric, oxide, synthase, protein, capon, protein, that, humans, encoded, gene, identifiersaliases, 6330408p19rik, capon, nitric, oxide, synthase, adaptor, pro. Nitric oxide synthase 1 adaptor protein NOS1AP also known as carboxyl terminal PDZ ligand of neuronal nitric oxide synthase protein CAPON is a protein that in humans is encoded by the NOS1AP gene 3 4 5 NOS1APIdentifiersAliasesNOS1AP 6330408P19Rik CAPON nitric oxide synthase 1 adaptor protein NPHS22External IDsOMIM 605551 HomoloGene 136252 GeneCards NOS1AP OMA NOS1AP orthologsGene location Human Chr Chromosome 1 human 1 Band1q23 3Start162 069 691 bp 1 End162 370 475 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed inRegion I of hippocampus propercerebellar vermisfrontal poleorbitofrontal cortexprefrontal cortexsuperior frontal gyrusBrodmann area 46parietal lobeBrodmann area 9postcentral gyrusn aMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding nitric oxide synthase bindingCellular componentL type voltage gated calcium channel complex cytosol nuclear membrane inward rectifier potassium channel complex perinuclear region of cytoplasm sarcolemma nucleus mitochondrion caveola Z disc T tubule sarcoplasmic reticulum membrane glutamatergic synapseBiological processpositive regulation of peptidyl cysteine S nitrosylation regulation of cardiac muscle cell action potential positive regulation of nitric oxide biosynthetic process regulation of nitric oxide synthase activity positive regulation of delayed rectifier potassium channel activity positive regulation of gene expression positive regulation of nitric oxide mediated signal transduction positive regulation of nitric oxide synthase activity regulation of high voltage gated calcium channel activity positive regulation of potassium ion transmembrane transport regulation of heart rate by chemical signal positive regulation of voltage gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization regulation of nitric oxide biosynthetic process regulation of calcium ion transmembrane transport via high voltage gated calcium channel regulation of ventricular cardiac muscle cell membrane repolarization postsynaptic actin cytoskeleton organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez9722n aEnsemblENSG00000198929n aUniProtO75052n aRefSeq mRNA NM 014697NM 001126060NM 001164757n aRefSeq protein NP 001119532NP 001158229NP 055512n aLocation UCSC Chr 1 162 07 162 37 Mbn aPubMed search 2 n aWikidataView Edit Human This gene encodes a cytosolic protein that binds to the signaling molecule neuronal nitric oxide synthase nNOS This protein has a C terminal PDZ binding domain that mediates interactions with nNOS and an N terminal phosphotyrosine binding PTB domain that binds to the small monomeric G protein Dexras1 Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets such as Dexras1 and the synapsins 5 NOS1AP polymorphisms has been associated with the QT interval length 6 Interactions editNOS1AP has been shown to interact with LRP1 7 LRP2 7 NOS1 4 RASD1 8 SYN1 9 References edit a b c GRCh38 Ensembl release 89 ENSG00000198929 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Seki N Ohira M Nagase T Ishikawa K Miyajima N Nakajima D Nomura N Ohara O February 1998 Characterization of cDNA clones in size fractionated cDNA libraries from human brain DNA Res 4 5 345 9 doi 10 1093 dnares 4 5 345 PMID 9455484 S2CID 263410587 a b Jaffrey SR Snowman AM Eliasson MJ Cohen NA Snyder SH Mar 1998 CAPON a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95 Neuron 20 1 115 24 doi 10 1016 S0896 6273 00 80439 0 PMID 9459447 S2CID 14613261 a b Entrez Gene NOS1AP nitric oxide synthase 1 neuronal adaptor protein Arking DE Pfeufer A Post W Kao WH Newton Cheh C Ikeda M West K Kashuk C Akyol M Perz S Jalilzadeh S Illig T Gieger C Guo CY Larson MG Wichmann HE Marban E O Donnell CJ Hirschhorn JN Kaab S Spooner PM Meitinger T Chakravarti A 2006 A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization Nat Genet 38 6 644 51 doi 10 1038 ng1790 PMID 16648850 S2CID 12942685 a b Gotthardt M Trommsdorff M Nevitt MF Shelton J Richardson JA Stockinger W Nimpf J Herz J August 2000 Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction J Biol Chem 275 33 25616 24 doi 10 1074 jbc M000955200 PMID 10827173 Fang M Jaffrey SR Sawa A Ye K Luo X Snyder SH October 2000 Dexras1 a G protein specifically coupled to neuronal nitric oxide synthase via CAPON Neuron 28 1 183 93 doi 10 1016 S0896 6273 00 00095 7 PMID 11086993 S2CID 10533464 Jaffrey SR Benfenati F Snowman AM Czernik AJ Snyder SH March 2002 Neuronal nitric oxide synthase localization mediated by a ternary complex with synapsin and CAPON Proc Natl Acad Sci U S A 99 5 3199 204 Bibcode 2002PNAS 99 3199J doi 10 1073 pnas 261705799 PMC 122496 PMID 11867766 Further reading editGotthardt M Trommsdorff M Nevitt MF Shelton J Richardson JA Stockinger W Nimpf J Herz J 2000 Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction J Biol Chem 275 33 25616 24 doi 10 1074 jbc M000955200 PMID 10827173 Hartley JL Temple GF Brasch MA 2000 DNA cloning using in vitro site specific recombination Genome Res 10 11 1788 95 doi 10 1101 gr 143000 PMC 310948 PMID 11076863 Zheng Y Li H Qin W Chen W Duan Y Xiao Y Li C Zhang J Li X Feng G He L 2005 Association of the carboxyl terminal PDZ ligand of neuronal nitric oxide synthase gene with schizophrenia in the Chinese Han population Biochem Biophys Res Commun 328 4 809 15 doi 10 1016 j bbrc 2005 01 037 PMID 15707951 Xu B Wratten N Charych EI Buyske S Firestein BL Brzustowicz LM 2005 Increased expression in dorsolateral prefrontal cortex of CAPON in schizophrenia and bipolar disorder PLOS Med 2 10 e263 doi 10 1371 journal pmed 0020263 PMC 1201690 PMID 16146415 Puri V McQuillin A Thirumalai S Lawrence J Krasucki R Choudhury K Datta S Kerwin S Quested D Bass N Pimm J Lamb G Moorey H Kandasami G Badacsonyi A Kelly K Morgan J Punukollu B Nadeem H Curtis D Gurling HM 2006 Failure to confirm allelic association between markers at the CAPON gene locus and schizophrenia in a British sample Biol Psychiatry 59 2 195 7 doi 10 1016 j biopsych 2005 08 015 PMID 16202394 S2CID 29114143 Post W Shen H Damcott C Arking DE Kao WH Sack PA Ryan KA Chakravarti A Mitchell BD Shuldiner AR 2007 Associations between genetic variants in the NOS1AP CAPON gene and cardiac repolarization in the old order Amish Hum Hered 64 4 214 9 doi 10 1159 000103630 PMC 2880727 PMID 17565224 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte 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