Aliases for NOS1 Gene
External Ids for NOS1 Gene
Previous HGNC Symbols for NOS1 Gene
Previous GeneCards Identifiers for NOS1 Gene
The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]
GeneCards Summary for NOS1 Gene
NOS1 (Nitric Oxide Synthase 1 (Neuronal)) is a Protein Coding gene. Diseases associated with NOS1 include spermatogenic failure 12 and pyloric stenosis. Among its related pathways are Disease and PEDF Induced Signaling. GO annotations related to this gene include calmodulin binding and heme binding. An important paralog of this gene is MTRR.
UniProtKB/Swiss-Prot for NOS1 Gene
Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR
Neuronal nitric oxide synthase (nNOS), along with inducible nitric oxide synthase (iNOS) and endothelial nitric oxide synthase (eNOS), catalyze the generation of nitric oxide and L-citrulline from L-arginine and molecular oxygen. It is activated at concentrations of calcium greater than 100 nM and requires co-factors of tetrahydrobiopterin, flavin adenine dinucleotide, flavin mononucleotide and NADPH for catalytic activity. Transcriptional regulation of nNOS is very complex and the nNOS gene produces multiple mRNA transcripts using alternate promoters, alternative splicing, cassette insertions/deletions, and varied sites for 3'-UTR cleavage and polyadenylation. Some of these alterations lead to variation in amino acid sequence, translating into nNOS isoforms with altered structural and functional properties. nNOS has been implicated in a wide variety of physiological and pathological processes, including neurotransmission, neurotoxicity, skeletal muscle contraction, sexual function, body fluid homeostasis and atherosclerosis. Consistent with such wide involvement, nNOS is expressed in numerous tissues. The human gene encoding nNOS is localized to chromosome 12q14.