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    NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein [ Homo sapiens ]

    Gene ID: 9722, updated on 26-Jan-2012
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    Summary

    Official Symbol
    NOS1APprovided by HGNC
    Official Full Name
    nitric oxide synthase 1 (neuronal) adaptor proteinprovided by HGNC
    Primary source
    HGNC:16859
    See related
    Ensembl:ENSG00000198929; HPRD:12023; MIM:605551; Vega:OTTHUMG00000024049
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAPON; 6330408P19Rik
    Summary
    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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]
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    Genomic context

    Location :
    1q23.3
    Sequence :
    Chromosome: 1; NC_000001.10 (162039581..162339813)
    See NOS1AP in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene activating transcription factor 6 Neighboring gene proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) pseudogene Neighboring gene olfactomedin-like 2B Neighboring gene microRNA 4654 Neighboring gene microRNA 556 Neighboring gene chromosome 1 open reading frame 111 Neighboring gene chromosome 1 open reading frame 226

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Association of the rs10918594 of nitric oxide synthase 1 adaptor protein (NOS1AP) polymorphisms with the graft function after kidney transplantation. Zukowski M, et al. Ann Transplant, 2011 Sep 30. PMID 21959512.
    2. Genome-wide association study of antipsychotic-induced QTc interval prolongation. Aberg K, et al. Pharmacogenomics J, 2010 Oct 5. PMID 20921969.
    3. Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls. Nicodemus KK, et al. Arch Gen Psychiatry, 2010 Oct. PMID 20921115.
    4. A common variant of NOS1AP is associated with QT interval duration in a Chinese population with Type 2 diabetes. Lu J, et al. Diabet Med, 2010 Sep. PMID 20722683.
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.

    See all (64) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. relationship of nitric oxide synthase 1 adaptor protein (NOS1AP) polymorphism with serum creatinine level and occurrence of delayed graft function in kidney transplant recipients
      Title: Association of the rs10918594 of nitric oxide synthase 1 adaptor protein (NOS1AP) polymorphisms with the graft function after kidney transplantation.
    2. Data show that NOS1AP protein levels are altered in BA46 and cerebellum of patients with schizophrenia.
      Title: NOS1AP protein levels are altered in BA46 and cerebellum of patients with schizophrenia.
    3. The genetic variant rs12143842 in NOS1AP is associated with QT interval duration in a Chinese population with Type 2 diabetes.
      Title: A common variant of NOS1AP is associated with QT interval duration in a Chinese population with Type 2 diabetes.
    4. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Genome-wide association study of antipsychotic-induced QTc interval prolongation.
    5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls.
    6. NOS1AP has a modest effect on ECG t-wave peak to t-wave end interval but is not related to T-wave morphology measures.
      Title: Relationship of common candidate gene variants to electrocardiographic T-wave peak to T-wave end interval and T-wave morphology parameters.
    7. the NOS1AP variant is associated with incidence of type 2 diabetes in calcium channel blocker users
      Title: NOS1AP variant associated with incidence of type 2 diabetes in calcium channel blocker users in the Atherosclerosis Risk in Communities (ARIC) study.
    8. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: A common variant of NOS1AP is associated with QT interval duration in a Chinese population with Type 2 diabetes.
    9. Two non-synonymous NOS1AP variations, V37I and D423N were identified in two families, one with two siblings with Obsessive-Compulsive Disorder and the other with two brothers with autism spectrum disorders.
      Title: Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.
    10. NOS1AP tag SNP genotype may provide an additional clinical dimension, which helps assess risk and choice of therapeutic strategies in LQTS.
      Title: Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome.
    Submit: New GeneRIF Correction See all (47)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.

    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.

    Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.

    Common variants at ten loci influence QT interval duration in the QTGEN Study.

    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

    Genetic variation in SCN10A influences cardiac conduction.

    QT interval, modifier of

    Several common variants modulate heart rate, PR interval and QRS duration.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O75052 Q07954 LRP1    HPRD  PubMed  
    O75052 P98164 LRP2    HPRD  PubMed  
    O75052 P29475 NOS1    HPRD  PubMed  
    O75052 Q9Y272 RASD1    HPRD  PubMed  
    O75052 P17600 SYN1    HPRD  PubMed  
    O75052 Q92777 SYN2    HPRD  PubMed  
    O75052 O14994 SYN3    HPRD  PubMed  
    BioGRID:115071 BioGRID:110215 LRP1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:115071 BioGRID:110216 LRP2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:115071 BioGRID:113579 LRP8    BioGRID  PubMed Two-hybrid 
    BioGRID:115071 BioGRID:110905 NOS1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:115071 BioGRID:119662 RASD1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:115071 BioGRID:112719 SYN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:115071 BioGRID:112720 SYN2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115071 BioGRID:113857 SYN3    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC138500

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    nitric-oxide synthase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		  
    regulation of nitric oxide biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		  
    regulation of nitric-oxide synthase activity NAS
    Non-traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein
    Names
    carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein
    nitric oxide synthase 1 adaptor protein
    C-terminal PDZ ligand of neuronal nitric oxide synthase protein
    C-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON)
    ligand of neuronal nitric oxide synthase with carboxyl-terminal PDZ domain
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015979.1 RefSeqGene

      Range
      5001..305233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001126060.1 → NP_001119532.2  carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) consists of the two terminal exons of variant 1 and results in a protein (isoform 2) that is significantly shorter than isoform 1(see PMID: 16146415).
      Source sequence(s)
      AL512785, AY841899
      Consensus CDS
      CCDS44267.1
      UniProtKB/TrEMBL
      Q3T551
      Related
      ENSP00000434988, OTTHUMP00000228955, ENST00000493151, OTTHUMT00000331966

    2. NM_001164757.1 → NP_001158229.1  carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1, that results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AB007933, AL512785, BC143771
      Consensus CDS
      CCDS53421.1
      UniProtKB/TrEMBL
      B7ZLF5
      UniProtKB/Swiss-Prot
      O75052
      Related
      ENSP00000431586, OTTHUMP00000228952, ENST00000530878, OTTHUMT00000382762
      Conserved Domains (1) summary
      cd01270
      Location:28 – 166
      Blast Score: 664
      DYC-1; DYC-1 (DYB-1 binding and Capon related) Phosphotyrosine-binding (PTB) domain

    3. NM_014697.2 → NP_055512.1  carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the full-length protein (isoform 1).
      Source sequence(s)
      AB007933, AL512785, BC112295
      Consensus CDS
      CCDS1237.1
      UniProtKB/Swiss-Prot
      O75052
      Related
      ENSP00000355133, OTTHUMP00000025714, ENST00000361897, OTTHUMT00000060555
      Conserved Domains (1) summary
      cd01270
      Location:28 – 171
      Blast Score: 654
      DYC-1; DYC-1 (DYB-1 binding and Capon related) Phosphotyrosine-binding (PTB) domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      162039581..162339813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      133284045..133584478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL450163.12 CAH73230.1
    genomic AL512785.7 CAI15779.1
    genomic AL590408.15 CAH71497.1
    genomic CH471067.1 EAW90700.1
    mRNA AB007933.2 BAA32309.2
    mRNA AF037070.1 AAC39656.1
    mRNA AI198232.1 None
    mRNA AY841899.1 AAW57298.1
    mRNA BC041382.2 None
    mRNA BC112295.1 AAI12296.1
    mRNA BC143771.1 AAI43772.1
    mRNA BC143780.1 None
    other-genetic BC111928.1 AAI11929.1
    other-genetic BC118499.1 AAI18500.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    O75052.3 GenPept UniProtKB/Swiss-Prot:O75052
    Q3T551 GenPept UniProtKB/TrEMBL:Q3T551
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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