Version: 8.0.0Date: Tue Jan 28 2025
Gene
NOS1
- Species
- Homo sapiens
- Symbol
- NOS1
- Name
- nitric oxide synthase 1
- Synonyms
- bNOS
- constitutive NOS
- Biotype
- protein coding gene
- Automated Description
- Enables nitric-oxide synthase activity and peptidyl-cysteine S-nitrosylase activity. Involved in several processes, including multicellular organismal response to stress; response to hypoxia; and vasodilation. Located in nucleoplasm; sarcolemma; and sarcoplasmic reticulum. Implicated in Alzheimer's disease; Parkinson's disease; asthma; and cystic fibrosis. Biomarker of Duchenne muscular dystrophy; chronic obstructive pulmonary disease; cystic fibrosis; and neurodegenerative disease (multiple).
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR43410
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr12:117208142...117452170 - (244.03 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.