NOS1AP

From Wikipedia, the free encyclopedia


Nitric oxide synthase 1 (neuronal) adaptor protein
Identifiers
Symbol(s) NOS1AP; CAPON; MGC138500
External IDs OMIM: 605551 MGI1917979 HomoloGene40976
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 9722 70729
Ensembl ENSG00000198929 ENSMUSG00000038473
Uniprot O75052 Q3TRB6
Refseq NM_014697 (mRNA)
NP_055512 (protein)
XM_129577 (mRNA)
XP_129577 (protein)
Location Chr 1: 160.31 - 160.6 Mb Chr 1: 172.16 - 172.43 Mb
Pubmed search [1] [2]

Nitric oxide synthase 1 (neuronal) adaptor protein, also known as NOS1AP, is a human gene.[1]

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.[1]

[edit] References

[edit] Further reading

  • Seki N, Ohira M, Nagase T, et al. (1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.". DNA Res. 4 (5): 345–9. PMID 9455484. 
  • Jaffrey SR, Snowman AM, Eliasson MJ, et al. (1998). "CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95.". Neuron 20 (1): 115–24. PMID 9459447. 
  • Gotthardt M, Trommsdorff M, Nevitt MF, et al. (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 (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863. 
  • Fang M, Jaffrey SR, Sawa A, et al. (2000). "Dexras1: a G protein specifically coupled to neuronal nitric oxide synthase via CAPON.". Neuron 28 (1): 183–93. PMID 11086993. 
  • Jaffrey SR, Benfenati F, Snowman AM, et al. (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. doi:10.1073/pnas.261705799. PMID 11867766. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Zheng Y, Li H, Qin W, et al. (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, et al. (2006). "Increased expression in dorsolateral prefrontal cortex of CAPON in schizophrenia and bipolar disorder.". PLoS Med. 2 (10): e263. doi:10.1371/journal.pmed.0020263. PMID 16146415. 
  • Puri V, McQuillin A, Thirumalai S, et al. (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. 
  • Arking DE, Pfeufer A, Post W, et al. (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. 
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414. 
  • Post W, Shen H, Damcott C, et al. (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. PMID 17565224.