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

    Gene ID: 9722, updated on 4-Jan-2025

    Summary

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    Official Symbol
    NOS1APprovided by HGNC
    Official Full Name
    nitric oxide synthase 1 adaptor proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16859
    See related
    Ensembl:ENSG00000198929 MIM:605551; AllianceGenome:HGNC:16859
    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; NPHS22; 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]
    Expression
    Biased expression in brain (RPKM 5.4), adrenal (RPKM 1.1) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NOS1AP in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162069691..162370475)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161414004..161714449)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162039481..162340265)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene activating transcription factor 6 Neighboring gene proteasome activator subunit 3 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161972665-161973166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1489 Neighboring gene Sharpr-MPRA regulatory region 11962 Neighboring gene olfactomedin like 2B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:162025767-162026281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1492 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:162061183-162061778 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:162061779-162062373 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_577 Neighboring gene uncharacterized LOC105371475 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:162106088-162107287 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162114645-162115359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162121700-162122200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162150234-162150764 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162167833-162168469 Neighboring gene microRNA 4654 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:162219262-162219923 Neighboring gene uncharacterized LOC124904445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:162289600-162290169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:162324648-162325148 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:162327537-162327759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162336993-162337492 Neighboring gene RNA, 5S ribosomal pseudogene 61 Neighboring gene Sharpr-MPRA regulatory region 12682 Neighboring gene microRNA 556 Neighboring gene chromosome 1 open reading frame 226 Neighboring gene spermatogenesis associated 46

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Evidence for a role of the NOS1AP (CAPON) gene in schizophrenia and its clinical dimensions: an association study in a South American population isolate. Kremeyer B, et al. Hum Hered, 2009. PMID 19077434, Free PMC Article
    2. Positive association between rs10918859 of the NOS1AP gene and coronary heart disease in male Han Chinese. Huang Y, et al. Genet Test Mol Biomarkers, 2013 Jan. PMID 23171141, Free PMC Article
    3. Associations between NOS1AP single nucleotide polymorphisms (SNPs) and QT interval duration in four racial/ethnic groups in the Multi-Ethnic Study of Atherosclerosis (MESA). Shah SA, et al. Ann Noninvasive Electrocardiol, 2013 Jan. PMID 23347024, Free PMC Article
    4. A common NOS1AP genetic polymorphism, rs12567209 G>A, is associated with sudden cardiac death in patients with chronic heart failure in the Chinese Han population. Liu X, et al. J Card Fail, 2014 Apr. PMID 24418727
    5. Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population. Huang L, et al. Int J Legal Med, 2014 Nov. PMID 24504561

    See all (143) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The influence of NOS1AP gene polymorphisms and childhood abuse on antisocial personality disorder in Chinese male violent inmates.
      Title: The influence of NOS1AP gene polymorphisms and childhood abuse on antisocial personality disorder in Chinese male violent inmates.
    2. Influence of NOS1AP Risk Variants on the Corrected QT (QTc) Interval in the Pharmacotherapy of Schizophrenia.
      Title: Influence of NOS1AP Risk Variants on the Corrected QT (QTc) Interval in the Pharmacotherapy of Schizophrenia.
    3. Evaluating Common NOS1AP Variants in Patients with Implantable Cardioverter Defibrillators for Secondary Prevention : Evaluating SNPs in NOS1AP.
      Title: Evaluating Common NOS1AP Variants in Patients with Implantable Cardioverter Defibrillators for Secondary Prevention : Evaluating SNPs in NOS1AP.
    4. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
      Title: Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
    5. A NOS1AP gene variant is associated with a paradoxical increase of the QT-interval shortening effect of digoxin.
      Title: A NOS1AP gene variant is associated with a paradoxical increase of the QT-interval shortening effect of digoxin.
    6. PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms affect therapeutic efficacy of nateglinide in Chinese patients with type 2 diabetes mellitus.
      Title: PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms affect therapeutic efficacy of nateglinide in Chinese patients with type 2 diabetes mellitus.
    7. NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis.
      Title: NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis.
    8. Effects of interaction of NOS1AP gene polymorphisms and childhood abuse on paranoid personality disorder features among male violent offenders in China.
      Title: Effects of interaction of NOS1AP gene polymorphisms and childhood abuse on paranoid personality disorder features among male violent offenders in China.
    9. Differentiated PDGFRalpha-Positive Cells: A Novel In-Vitro Model for Functional Studies of Neuronal Nitric Oxide Synthase.
      Title: Differentiated PDGFRα-Positive Cells: A Novel In-Vitro Model for Functional Studies of Neuronal Nitric Oxide Synthase.
    10. Effect of Sex and Underlying Disease on the Genetic Association of QT Interval and Sudden Cardiac Death.
      Title: Effect of Sex and Underlying Disease on the Genetic Association of QT Interval and Sudden Cardiac Death.
    Submit: New GeneRIF Correction See all GeneRIFs (84)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Nephrotic syndrome, type 22
    MedGen: C5436909 OMIM: 619155 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.
    EBI GWAS Catalog
    A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.
    EBI GWAS Catalog
    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    EBI GWAS Catalog
    A genome-wide association study for reading and language abilities in two population cohorts.
    EBI GWAS Catalog
    Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.
    EBI GWAS Catalog
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    EBI GWAS Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genetic variation in SCN10A influences cardiac conduction.
    EBI GWAS Catalog
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    EBI GWAS Catalog
    Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
    EBI GWAS Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Several common variants modulate heart rate, PR interval and QRS duration.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138500

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nitric-oxide synthase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nitric-oxide synthase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables nitric-oxide synthase regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in nitric oxide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    acts_upstream_of positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-cysteine S-nitrosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    acts_upstream_of positive regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in postsynaptic actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in postsynaptic actin cytoskeleton organization IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in postsynaptic actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of cardiac muscle cell action potential TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of heart rate by chemical signal IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of high voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of nitric oxide biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of nitric-oxide synthase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in filopodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    colocalizes_with nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in podosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sarcolemma ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_015979.2 RefSeqGene

      Range
      4901..305685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001126060.2 → 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/Swiss-Prot
      O75052
      Related
      ENSP00000434988.1, ENST00000493151.1

    2. NM_001164757.2 → 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, AL590408, BC143771
      Consensus CDS
      CCDS53421.1
      UniProtKB/Swiss-Prot
      O75052
      Related
      ENSP00000431586.1, ENST00000530878.5
      Conserved Domains (1) summary
      cd01270
      Location:2 → 180
      PTB_CAPON-like; Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (CAPON) Phosphotyrosine-binding (PTB) domain

    3. NM_014697.3 → 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, AL590408, BC112295
      Consensus CDS
      CCDS1237.1
      UniProtKB/Swiss-Prot
      B7ZLF5, O43564, O75052, Q3T551, Q5VU95
      Related
      ENSP00000355133.5, ENST00000361897.10
      Conserved Domains (1) summary
      cd01270
      Location:2 → 185
      PTB_CAPON-like; Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (CAPON) Phosphotyrosine-binding (PTB) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      162069691..162370475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      161414004..161714449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75052.3 GenPept UniProtKB/Swiss-Prot:O75052

    Gene LinkOut

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

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