LongevityMap Gene

Gene details

HGNC symbol
NDUFV1 
Aliases
UQOR1; CI-51K; CI51KD 
Common name
NADH:ubiquinone oxidoreductase core subunit V1 
Description
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Cytogenetic Location
11q13.2
UCSC Genome Browser
View 11q13.2 on the UCSC genome browser
OMIM
161015
Ensembl
ENSG00000167792
UniProt/Swiss-Prot
E5KNH5_HUMAN
Entrez Gene
4723
UniGene
7744
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
nuo-1
Danio rerio
ndufv1
Drosophila melanogaster
CG9140
Mus musculus
Ndufv1
Rattus norvegicus
Ndufv1
Schizosaccharomyces pombe
SPBC18E5.10

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as nuo-1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-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
No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
Indentifier
rs12793832
Reference