NOS1AP Chromosome 1
Nitric oxide synthase 1 adaptor protein
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What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000198929
Associated Conditions (3)
Colon adenocarcinoma
Nephrotic syndrome
type 22
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS771956293 | Health Risk | Conflicting classifications of pathogenicity | Colon adenocarcinoma, Colon adenocarcinoma |
| RS1656826074 | Health Risk | Pathogenic | Nephrotic syndrome, type 22, Nephrotic syndrome |
| RS908210610 | Health Risk | Pathogenic | Nephrotic syndrome, type 22, Nephrotic syndrome |