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

Gene ID: 9722, updated on 19-Jul-2014
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]
See NOS1AP in Epigenomics, MapViewer
Location:
1q23.3
Exon count :
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) pseudogene Neighboring gene olfactomedin-like 2B Neighboring gene microRNA 4654 Neighboring gene RNA, 5S ribosomal pseudogene 61 Neighboring gene microRNA 556 Neighboring gene chromosome 1 open reading frame 111 Neighboring gene chromosome 1 open reading frame 226

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 variation in SCN10A influences cardiac conduction.
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
  • 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...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
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

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 

    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 proteins identical to 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, OTTHUMP00000228955, ENST00000493151, OTTHUMT00000331966
  2. NM_001164757.1NP_001158229.1  carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 3

    See proteins identical to 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, BC143771
    Consensus CDS
    CCDS53421.1
    UniProtKB/Swiss-Prot
    O75052
    Conserved Domains (1) summary
    cd01270
    Location:2180
    Blast Score: 945
    PTB_CAPON-like; Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (CAPON) Phosphotyrosine-binding (PTB) domain
  3. NM_014697.2NP_055512.1  carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 1

    See proteins identical to NP_055512.1

    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:2185
    Blast Score: 920
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    162069791..162370023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    163461578..163761499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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