NOS1 - nitric oxide synthase 1 Gene
Also Known as NOS; bNOS; nNOS; IHPS1; N-NOS; NC-NOS
Species: Homo sapiens
About NOS1
This gene has 5 transcripts (splice variants), 198 orthologues, 5 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 1.1), kidney (RPKM 1.0) and 11 other tissues.
Summary
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]
NOS1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001204218.2 | NP_001191147.1 | nitric oxide synthase, brain isoform 2 |
| NM_001204213.2 | NP_001191142.1 | nitric oxide synthase, brain isoform 3 |
| NM_001204214.2 | NP_001191143.1 | nitric oxide synthase, brain isoform 3 |
| NM_000620.5 | NP_000611.1 | nitric oxide synthase, brain isoform 1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables nitric-oxide synthase activity |
IDA
IDA: Inferred from direct assay
|
1689048 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11149895 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in multicellular organismal response to stress |
IMP
IMP: Inferred from mutant phenotype
|
18391107 | GOA |
| involved in positive regulation of peptidyl-serine phosphorylation |
IMP
IMP: Inferred from mutant phenotype
|
28089352 | GOA |
| involved in response to heat |
IDA
IDA: Inferred from direct assay
|
18048451 | GOA |
| involved in response to hypoxia |
IEP
IEP: Inferred from expression pattern
|
16276418 | GOA |
| involved in vasodilation |
IDA
IDA: Inferred from direct assay
|
18048451 | GOA |
| involved in vasodilation |
IMP
IMP: Inferred from mutant phenotype
|
18391107 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in sarcolemma |
IDA
IDA: Inferred from direct assay
|
7545544 | GOA |
| located in sarcoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
9892689 | GOA |
NOS1 Protein Structure
PDZ: PDZ domain (Also known as DHR or GLGF) (18 - 94)
NO_synthase: Nitric oxide synthase, oxygenase domain (352 - 722)
Flavodoxin_1: Flavodoxin (762 - 935)
FAD_binding_1: FAD binding domain (991 - 1219)
NAD_binding_1: Oxidoreductase NAD-binding domain (1251 - 1363)
- 0
- 300
- 600
- 900
- 1200
- 1434 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nitric oxide synthase, brain |
|
|
NOS1 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80249 | nNOS Antibody (YA263) | WB, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cystic Fibrosis |
|
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| Spinocerebellar Ataxia, X-Linked 3 |
|
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| Toxic Encephalopathy |
|
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| Asthma |
|
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| Gastroparesis |
|
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| Hyperphenylalaninemia |
|
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| Myocardial Infarction |
|
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| Restless Legs Syndrome |
|
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| Impotence |
|
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| Hirschsprung Disease 1 |
|
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| Schizophrenia |
|
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| Hypertrophic Pyloric Stenosis |
|
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| Jejunoileitis |
|
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| Intracranial Berry Aneurysm |
|
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| Cataract 23, Multiple Types |
|
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| Schizoaffective Disorder |
|
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| Huntington Disease |
|
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| Cerebral Hypoxia |
|
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| Muscular Dystrophy, Duchenne Type |
|
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| Heart Disease |
|
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| Migraine With Or Without Aura 1 |
|
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| Scoliosis |
|
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| Myopathy |
|
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| Ischemia |
|
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| Hypertension, Essential |
|
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| Psychotic Disorder |
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| Diabetes Mellitus |
|
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| Dystonia |
|
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| Myopia |
|
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| Ocular Dominance |
|
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| Muscular Dystrophy |
|
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| Major Depressive Disorder |
|
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| Penile Disease |
|
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| Body Mass Index Quantitative Trait Locus 11 |
|
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| Agoraphobia |
|
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| Parkinson Disease, Late-Onset |
|
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| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
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| Cerebral Palsy |
|
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| Nervous System Disease |
|
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| Mood Disorder |
|
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| Long Qt Syndrome |
|
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| Amyotrophic Lateral Sclerosis 1 |
|
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| Pyloric Stenosis |
|
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| Hepatic Encephalopathy |
|
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| Functional Gastric Disease |
|
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| Constipation |
|
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| Achalasia |
|
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| Epilepsy |
|
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| Sigmoid Disease |
|
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| Bipolar Disorder |
|
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| Muscular Dystrophy, Becker Type |
|
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| Spinocerebellar Ataxia, X-Linked 4 |
|
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| Peyronie'S Disease |
|
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| Intestinal Perforation |
|
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| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | NOS1 | RGD | RGD:3184 |
| Canis familiaris | NOS1 | VGNC | VGNC:43894 |
| Mus musculus | NOS1 | MGD | MGI:97360 |
| Macaca mulatta | NOS1 | VGNC | VGNC:75368 |
| Felis catus | NOS1 | VGNC | VGNC:80461 |
| Bos taurus | NOS1 | VGNC | VGNC:32172 |
| Others | NOS1 | NCBI |