LongevityMap Gene

Gene details

HGNC symbol
GABPB1 
Aliases
E4TF1; GABPB; BABPB2; E4TF1B; GABPB2; NRF2B1; NRF2B2; GABPB-1; E4TF1-47; E4TF1-53 
Common name
GA binding protein transcription factor beta subunit 1 
Description
This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Cytogenetic Location
15q21.2
UCSC Genome Browser
View 15q21.2 on the UCSC genome browser
OMIM
600610
Ensembl
ENSG00000104064
UniProt/Swiss-Prot
A0A024R5R5_HUMAN
Entrez Gene
2553
UniGene
654350
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
gabpb2a
Mus musculus
Gabpb1
Rattus norvegicus
Gabpb1l

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Spanish
Study Design
The association between five common polymorphisms in genes of this pathway and extreme longevity were examined using a case (107 centenarian, 100–111 years, 89 female)-control (284 young adults, ≤50 years, 150 female) design
Conclusions
The studied genetic variants of the PPARD-PPARGC1A-NRF-TFAM pathway were not associated with extreme longevity. A marginal association could exist for rs1937 in TFAM (p=0.003).
Indentifier
rs12594956
Reference