NOS1AP

Chr 1

nitric oxide synthase 1 adaptor protein

Also known as: 6330408P19Rik, CAPON, NPHS22

NCBI Gene: 9722 ENSG00000198929 UniProt: O75052

The protein functions as an adapter linking neuronal nitric oxide synthase (nNOS) to specific targets including synapsin and RASD1, regulating nitric oxide synthesis and synaptic function, and also activates CDC42 in kidney podocytes to control podosomes and filopodia formation. Mutations cause autosomal recessive nephrotic syndrome type 22, affecting kidney function through disrupted podocyte structure. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.42), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNephrotic syndrome 22

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.42

LOEUF

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Mechanism

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