NOS1AP nitric oxide synthase 1 adaptor protein
Gene ID: 9722, updated on 11-Apr-2024Gene type: protein coding
Also known as: CAPON; NPHS22; 6330408P19Rik
- See all available tests in GTR for this gene
- Go to complete Gene record for NOS1AP
- Go to Variation Viewer for NOS1AP variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. GeneReviews: Not available | |
| A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval. GeneReviews: Not available | |
| A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. GeneReviews: Not available | |
| A genome-wide association study for reading and language abilities in two population cohorts. GeneReviews: Not available | |
| Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. GeneReviews: Not available | |
| Common variants at ten loci influence QT interval duration in the QTGEN Study. GeneReviews: Not available | |
| Common variants at ten loci modulate the QT interval duration in the QTSCD Study. GeneReviews: Not available | |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genetic variation in SCN10A influences cardiac conduction. GeneReviews: Not available | |
| Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. GeneReviews: Not available | |
| Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. GeneReviews: Not available | |
| Impact of ancestry and common genetic variants on QT interval in African Americans. GeneReviews: Not available | |
| Nephrotic syndrome, type 22 | not available |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Several common variants modulate heart rate, PR interval and QRS duration. GeneReviews: Not available |
Genomic context
- Location:
- 1q23.3
- Sequence:
- Chromosome: 1; NC_000001.11 (162069691..162370475)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NOS1AP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NOS1AP database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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