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
- CG11423
- Drosophila melanogaster
- CG8102
- 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