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

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; 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-107422 (e-PCR)
- UniSTS:173840

RH93526 (e-PCR)
- UniSTS:85270

SHGC-146766 (e-PCR)
- UniSTS:175418

AL033662 (e-PCR)
- UniSTS:93501

CAPON__4506 (e-PCR)
- UniSTS:471383

GCT16C03 (e-PCR)
- UniSTS:47447

SHGC-153465 (e-PCR)
- UniSTS:177765

SHGC-155436 (e-PCR)
- UniSTS:185195

SHGC-145682 (e-PCR)
- UniSTS:174725

RH118641 (e-PCR)
- UniSTS:138132

RH119485 (e-PCR)
- UniSTS:133527

RH124073 (e-PCR)
- UniSTS:134554

SHGC-146116 (e-PCR)
- UniSTS:175015

D1S2675 (e-PCR), detects polymorphism
- UniSTS:12200

SHGC-80935 (e-PCR)
- UniSTS:102569

SHGC-78631 (e-PCR)
- UniSTS:102087

NoName (e-PCR)
- UniSTS:485620

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

NG_015979.2 RefSeqGene

Range

4901..305685

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001126060.2 → NP_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
NM_001164757.2 → NP_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:2 → 180

PTB_CAPON-like; Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (CAPON) Phosphotyrosine-binding (PTB) domain
NM_014697.3 → NP_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

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