Human Gene NOS1AP (ENST00000493151.1) Description and Page Index
Description: Homo sapiens nitric oxide synthase 1 adaptor protein (NOS1AP), transcript variant 2, mRNA. (from RefSeq NM_001126060) RefSeq Summary (NM_001126060): 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]. Gencode Transcript: ENST00000493151.1 Gencode Gene: ENSG00000198929.13 Transcript (Including UTRs) Position: hg38 chr1:162,362,983-162,370,023 Size: 7,041 Total Exon Count: 2 Strand: + Coding Region Position: hg38 chr1:162,365,350-162,367,467 Size: 2,118 Coding Exon Count: 2
ID:CAPON_HUMAN DESCRIPTION: RecName: Full=Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein; AltName: Full=C-terminal PDZ ligand of neuronal nitric oxide synthase protein; AltName: Full=Nitric oxide synthase 1 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). SUBUNIT: Interacts with the PDZ domain of NOS1 or the second PDZ domain of DLG4 through its C-terminus. Interacts with RASD1 and SYN1, SYN2 and SYN3 via its PID domain. Forms a ternary complex with NOS1 and RASD1. Forms a ternary complex with NOS1 and SYN1 (By similarity). POLYMORPHISM: Genetic variation in NOS1AP influences the electrocardiographic QT interval [MIM:610141]. The QT interval is defined as the time from the beginning of the Q wave to the end of the T wave, representing the duration of ventricular electrical activity. The QT interval, a measure of cardiac repolarization, is a genetically influenced quantitative trait with considerable medical relevance: both high and low values are associated with increased risk of cardiovascular morbidity and mortality. SIMILARITY: Contains 1 PID domain. SEQUENCE CAUTION: Sequence=BAA32309.2; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75052
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0003062 regulation of heart rate by chemical signal GO:0010628 positive regulation of gene expression GO:0010750 positive regulation of nitric oxide mediated signal transduction GO:0045428 regulation of nitric oxide biosynthetic process GO:0045429 positive regulation of nitric oxide biosynthetic process GO:0050999 regulation of nitric-oxide synthase activity GO:0051000 positive regulation of nitric-oxide synthase activity GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization GO:0098901 regulation of cardiac muscle cell action potential GO:1901381 positive regulation of potassium ion transmembrane transport GO:1901841 regulation of high voltage-gated calcium channel activity GO:1902261 positive regulation of delayed rectifier potassium channel activity GO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1903762 positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:2000170 positive regulation of peptidyl-cysteine S-nitrosylation