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
- gabpb1
- Drosophila melanogaster
- Atac3
- Mus musculus
- Gabpb1
- Rattus norvegicus
- 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