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