NOS1AP

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]

Full Name

nitric oxide synthase 1 (neuronal) adaptor protein

Function

Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity).
In kidney podocytes, plays a role in podosomes and filopodia formation through CDC42 activation (PubMed:33523862).

Biological Process

Positive regulation of delayed rectifier potassium channel activityBy SimilarityISS:BHF-UCL
Positive regulation of gene expressionBy SimilarityISS:BHF-UCL
Positive regulation of nitric oxide biosynthetic processBy SimilarityISS:BHF-UCL
Positive regulation of nitric oxide mediated signal transductionBy SimilarityISS:BHF-UCL
Positive regulation of nitric-oxide synthase activityBy SimilarityISS:BHF-UCL
Positive regulation of peptidyl-cysteine S-nitrosylationBy SimilarityISS:BHF-UCL
Positive regulation of potassium ion transmembrane transportBy SimilarityISS:BHF-UCL
Positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationBy SimilarityISS:BHF-UCL
Postsynaptic actin cytoskeleton organizationManual Assertion Based On ExperimentIDA:SynGO
Regulation of calcium ion transmembrane transport via high voltage-gated calcium channelBy SimilarityISS:BHF-UCL
Regulation of cardiac muscle cell action potentialBy SimilarityISS:BHF-UCL
Regulation of heart rate by chemical signalManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of high voltage-gated calcium channel activityBy SimilarityISS:BHF-UCL
Regulation of nitric oxide biosynthetic process1 PublicationNAS:DFLAT
Regulation of nitric-oxide synthase activity1 PublicationNAS:DFLAT
Regulation of ventricular cardiac muscle cell membrane repolarizationManual Assertion Based On ExperimentIMP:BHF-UCL

Cellular Location

Cell projection, filopodium
Cell projection, podosome

Involvement in disease

Nephrotic syndrome 22 (NPHS22):
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS22 is an autosomal recessive, steroid-resistant form characterized by onset of progressive kidney dysfunction in infancy.