LongevityMap Gene

Gene details

HGNC symbol: NDUFS1
Aliases: CI-75k; CI-75Kd; PRO1304
Common name: NADH:ubiquinone oxidoreductase core subunit S1
Description: The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Cytogenetic Location: 2q33.3
UCSC Genome Browser: View 2q33.3 on the UCSC genome browser
OMIM: 157655
Ensembl: ENSG00000023228
UniProt/Swiss-Prot: E5KRK5_HUMAN
Entrez Gene: 4719
UniGene: 471207
1000 Genomes: 1000 Genomes

Homologs in model organisms

Caenorhabditis elegans: nuo-5
Danio rerio: ndufs1
Drosophila melanogaster: ND75
Mus musculus: Ndufs1
Rattus norvegicus: Ndufs1

In other databases

GenAge model organism genes

A homolog of this gene for Caenorhabditis elegans is present as nuo-5
A homolog of this gene for Drosophila melanogaster is present as ND75

Studies (1)

Significant/Non-significant: 1/0

Longevity Association

Significant

Population

Danish

Study Design

38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.

Conclusions

NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. This result is consistent with their associations with physical functioning and suggests that the variability of genes in the pro-antioxidant pathway can influence survival through an effect on physical performances, at least in the analyzed cohort.

Indentifier

rs11548670

Reference