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

Gene ID: 9722, updated on 15-Jun-2019

Summary

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
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]
Expression
Biased expression in brain (RPKM 5.4), adrenal (RPKM 1.1) and 11 other tissues See more
Orthologs

Genomic context

See NOS1AP in Genome Data Viewer
Location:
1q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (162069791..162370023)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162039581..162339813)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene activating transcription factor 6 Neighboring gene proteasome activator subunit 3 pseudogene Neighboring gene olfactomedin like 2B Neighboring gene uncharacterized LOC105371475 Neighboring gene microRNA 4654 Neighboring gene RNA, 5S ribosomal pseudogene 61 Neighboring gene microRNA 556 Neighboring gene chromosome 1 open reading frame 226 Neighboring gene spermatogenesis associated 46

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138500

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nitric-oxide synthase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nitric-oxide synthase binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of nitric oxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of nitric oxide mediated signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of nitric-oxide synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of peptidyl-cysteine S-nitrosylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
postsynaptic actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel TAS
Traceable Author Statement
more info
PubMed 
regulation of cardiac muscle cell action potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
regulation of heart rate by chemical signal IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of high voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of nitric oxide biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
regulation of nitric-oxide synthase activity NAS
Non-traceable Author Statement
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with L-type voltage-gated calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
colocalizes_with T-tubule ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
colocalizes_with caveola ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
colocalizes_with inward rectifier potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
sarcolemma ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

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)

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001119532.2

    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_001164757.2NP_001158229.1  carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 3

    See identical proteins and their annotated locations for NP_001158229.1

    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:2180
    PTB_CAPON-like; Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (CAPON) Phosphotyrosine-binding (PTB) domain
  3. NM_014697.3NP_055512.1  carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 1

    See identical proteins and their annotated locations for NP_055512.1

    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
    O75052
    Related
    ENSP00000355133.5, ENST00000361897.10
    Conserved Domains (1) summary
    cd01270
    Location:2185
    PTB_CAPON-like; Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (CAPON) Phosphotyrosine-binding (PTB) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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