GABPB1 (GA binding protein transcription factor subunit beta 1)

2017-10-01  

Identity

HGNC
LOCATION
15q21.2
LOCUSID
ALIAS
BABPB2,E4TF1,E4TF1-47,E4TF1-53,E4TF1B,GABPB,GABPB-1,GABPB2,NRF2B1,NRF2B2
FUSION GENES

Other Information

Locus ID:

NCBI: 2553
MIM: 600610
HGNC: 4074
Ensembl: ENSG00000104064

Variants:

dbSNP: 2553
ClinVar: 2553
TCGA: ENSG00000104064
COSMIC: GABPB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104064ENST00000220429Q06547
ENSG00000104064ENST00000359031Q06547
ENSG00000104064ENST00000359031A0A024R5R5
ENSG00000104064ENST00000380877Q06547
ENSG00000104064ENST00000380877A0A024R5X6
ENSG00000104064ENST00000396464Q06547
ENSG00000104064ENST00000396464A0A024R5R5
ENSG00000104064ENST00000429662Q06547
ENSG00000104064ENST00000543881F5H7I4
ENSG00000104064ENST00000558335H0YNZ0
ENSG00000104064ENST00000558970H0YNZ0
ENSG00000104064ENST00000560825H9ZYI9
ENSG00000104064ENST00000561010H0YMZ5

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
94614361998The structure of GABPalpha/beta: an ETS domain- ankyrin repeat heterodimer bound to DNA.95
183438192008PGC-1-related coactivator complexes with HCF-1 and NRF-2beta in mediating NRF-2(GABP)-dependent respiratory gene expression.37
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
302050502018Disruption of the β1L Isoform of GABP Reverses Glioblastoma Replicative Immortality in a TERT Promoter Mutation-Dependent Manner.15
164124362006Brain-specific angiogenesis inhibitor 2 regulates VEGF through GABP that acts as a transcriptional repressor.12
177260902008GA-binding protein regulates KIS gene expression, cell migration, and cell cycle progression.10
210766202010Induction of heparanase-1 expression by mutant B-Raf kinase: role of GA binding protein in heparanase-1 promoter activation.6
216094782011Decreased expression of BRCA1 in SK-BR-3 cells is the result of aberrant activation of the GABP Beta promoter by an NRF-1-containing complex.6
120165892002Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.4
200289342010Interaction between SNPs in the NRF2 gene and elite endurance performance.3

Citation

Dessen P

GABPB1 (GA binding protein transcription factor subunit beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57114/gabpb1