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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GABPA
GA binding protein transcription factor subunit alpha
Chromosome 21 · 21q21.3
NCBI Gene: 2551Ensembl: ENSG00000154727.12HGNC: HGNC:4071UniProt: A8IE48
117PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IItranscription cis-regulatory region bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificmalignant renal pelvis neoplasmcataracttrauma complicationopen-angle glaucoma
✦AI Summary

GABPA is a sequence-specific DNA-binding transcription factor that activates RNA polymerase II-dependent gene expression 1. As an ETS family member, GABPA regulates distinct gene networks controlling cellular processes including migration through direct targets like RAC1 and KIF20A 1. In mitochondrial bioenergetics, GABPA cooperates with PGC-1α and other transcription factors to potentiate expression of tricarboxylic acid cycle genes essential for cardiac ATP production 2. GABPA also functions as a tumor suppressor in renal cell carcinoma by activating TGFBR2 to engage TGFβ signaling and promote ferroptosis through ACSL4, processes disrupted by oncometabolite-induced methylation 34. In hepatocellular carcinoma, GABPA binds the TERT promoter to regulate telomerase expression; correcting TERT promoter mutations impairs GABPA binding and suppresses tumorigenesis 5. GABPA expression is downregulated in cancer tissues and associated with poor survival; its restoration via demethylation or pathway modulation represents therapeutic potential 34. Additionally, GABPA regulates squalene epoxidase transcription in bladder cancer, where its inhibition induces oxidative stress and apoptosis 6. Sex-dimorphic DNA methylation of GABPA occurs in first trimester placenta with potential implications for fetal development 7.

Sources cited
1
GABPA is an ETS transcription factor that controls cell migration through direct regulation of RAC1 and KIF20A
PMID: 23284628
2
GABPA cooperates with PGC-1α to potentiate transcription of tricarboxylic acid cycle genes in cardiac mitochondria
PMID: 39151728
3
GABPA acts as a tumor suppressor in renal cell carcinoma by activating TGFBR2 and TGFβ signaling; L-2-HG oncometabolite silences GABPA through methylation
PMID: 35549739
4
GABPA suppresses ccRCC tumorigenesis by directly binding ACSL4 promoter to promote ferroptosis; GABPA is downregulated in ccRCC tissues and predicts poor survival
PMID: 39489850
5
GABPA binds the mutated TERT promoter to regulate telomerase activity; correcting TERT promoter mutations impairs GABPA binding and inhibits HCC tumor growth
PMID: 38016019
6
GABPA regulates SQLE transcription in bladder cancer; KDM4A inhibition increases GABPA accessibility to SQLE promoter, inducing oxidative stress and apoptosis
PMID: 39461328
7
GABPA expression is downregulated by H4K20me3 in KRAS-mutant LUAD; GABPA inhibition increases ROS production and promotes ferroptosis combined with cisplatin
PMID: 41422226
8
GABPA promoter region (cg17612569) shows sex-dimorphic DNA methylation in first trimester placenta, with male-specific hypermethylation conserved across gestation
PMID: 39152463
Disease Associationsⓘ20
malignant renal pelvis neoplasmOpen Targets
0.30Weak
cataractOpen Targets
0.20Weak
trauma complicationOpen Targets
0.18Weak
open-angle glaucomaOpen Targets
0.16Weak
Alzheimer diseaseOpen Targets
0.15Weak
smoking initiationOpen Targets
0.13Weak
neoplasmOpen Targets
0.12Weak
cancerOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.12Weak
non-small cell lung carcinomaOpen Targets
0.12Weak
breast cancerOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.12Weak
chronic obstructive pulmonary diseaseOpen Targets
0.12Weak
Parkinson diseaseOpen Targets
0.12Weak
acute myeloid leukemiaOpen Targets
0.12Weak
esophageal squamous cell carcinomaOpen Targets
0.12Weak
gastric cancerOpen Targets
0.11Weak
melanomaOpen Targets
0.11Weak
chronic kidney diseaseOpen Targets
0.11Weak
infectionOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EP300Protein interaction100%GABPB1Protein interaction100%ATXN8Protein interaction100%CTCFProtein interaction99%TFAMProtein interaction97%PPARGC1AProtein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
85%
Ovary
73%
Brain
60%
Liver
59%
Lung
50%
Gene Interaction Network
Click a node to explore
GABPAEP300GABPB1ATXN8CTCFTFAMPPARGC1A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q06546
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.08Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.08]
RankingsWhere GABPA stands among ~20K protein-coding genes
  • #4,040of 20,598
    Most Researched117 · top quartile
  • #28of 17,882
    Most Constrained (LOEUF)0.08 · top 1%
Genes detectedGABPA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sexually dimorphic DNA methylation and gene expression patterns in human first trimester placenta.
PMID: 39152463
Biol Sex Differ · 2024
1.00
2
GABPA-activated TGFBR2 transcription inhibits aggressiveness but is epigenetically erased by oncometabolites in renal cell carcinoma.
PMID: 35549739
J Exp Clin Cancer Res · 2022
0.90
3
GABPA inhibits tumorigenesis in clear cell renal cell carcinoma by regulating ferroptosis through ACSL4.
PMID: 39489850
Sci Rep · 2024
0.80
4
Inhibition of KDM4A restricts SQLE transcription and induces oxidative stress imbalance to suppress bladder cancer.
PMID: 39461328
Redox Biol · 2024
0.70
5
The ETS transcription factors ELK1 and GABPA regulate different gene networks to control MCF10A breast epithelial cell migration.
PMID: 23284628
PLoS One · 2012
0.60