LongevityMap Gene

Gene details

HGNC symbol
NOS1 
Aliases
NOS; bNOS; nNOS; IHPS1; N-NOS; NC-NOS 
Common name
nitric oxide synthase 1 
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]
Cytogenetic Location
12q24.22
UCSC Genome Browser
View 12q24.22 on the UCSC genome browser
OMIM
163731
Ensembl
ENSG00000089250
UniProt/Swiss-Prot
A0PJJ7_HUMAN
Entrez Gene
4842
UniGene
654410
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
nos1
Mus musculus
Nos1
Rattus norvegicus
Nos1

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Significant
Population
Italian (Southern)
Study Design
The variability of the three human nitric oxide synthases (NOS1, NOS2, NOS3) was studied in a large sample (763 subjects, age range 19–107 years, median age 81 years). The sample analyzed included 417 females and 346 males.
Conclusions
After adjusting for sex and multiple testing, NOS1 rs1879417 SNP was found to be significantly associated with the longevity phenotype. The additive model for rs1879417 resulted to be the most likely genetic model, in which the presence of the relevant allele (allele C for rs1879417) decreases the probability to attain longevity.
Indentifier
rs1879417
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Italian (Southern)
    Study Design
    The variability of the three human genes (NOS1, NOS2, NOS3) was studied in a large sample (763 subjects, age range 19–107 years, median age 81 years). The sample analyzed included 417 females and 346 males.
    Conclusions
    None of the tested single nucleotide polymorphisms, excepting rs1879417, showed a significant association with the longevity phenotype. The NOS2 rs2297518 SNP was only marginally associated with longevity.
    Indentifier
    rs2682826
    Reference