Aliases for NOS1AP Gene
External Ids for NOS1AP Gene
Previous GeneCards Identifiers for NOS1AP Gene
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]
GeneCards Summary for NOS1AP Gene
NOS1AP (Nitric Oxide Synthase 1 (Neuronal) Adaptor Protein) is a Protein Coding gene. Diseases associated with NOS1AP include long qt syndrome 1 and long qt syndrome. Among its related pathways are SIDS Susceptibility Pathways and Circadian entrainment. GO annotations related to this gene include PDZ domain binding and nitric-oxide synthase binding. An important paralog of this gene is ENSG00000254706.
UniProtKB/Swiss-Prot for NOS1AP Gene
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).