GABPB1 (GA binding protein transcription factor subunit beta 1)

2017-10-01  

Identity

HGNC
GABPB1
LOCATION
15q21.2
LOCUSID
2553
ALIAS
BABPB2,E4TF1,E4TF1-47,E4TF1-53,E4TF1B,GABPB,GABPB-1,GABPB2,NRF2B1,NRF2B2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
353433172022Association of single nucleotide polymorphisms in the nuclear respiratory factor-2 beta subunit-encoding the GABPB1 gene within the occupational environment.0
353433172022Association of single nucleotide polymorphisms in the nuclear respiratory factor-2 beta subunit-encoding the GABPB1 gene within the occupational environment.0
331514532021FGFR4 promotes nuclear localization of GABP to inhibit cell apoptosis in uterine leiomyosarcoma.0
333466912021Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene.2
337580972021Cancer-specific loss of TERT activation sensitizes glioblastoma to DNA damage.25
331514532021FGFR4 promotes nuclear localization of GABP to inhibit cell apoptosis in uterine leiomyosarcoma.0
333466912021Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene.2
337580972021Cancer-specific loss of TERT activation sensitizes glioblastoma to DNA damage.25
309045362019Association of SNP rs7181866 in the nuclear respiratory factor-2 beta subunit encoding GABPB1 gene with obesity and type-2 diabetes mellitus in South Indian population.1
317000672019LncRNA GABPB1-AS1 and GABPB1 regulate oxidative stress during erastin-induced ferroptosis in HepG2 hepatocellular carcinoma cells.114
309045362019Association of SNP rs7181866 in the nuclear respiratory factor-2 beta subunit encoding GABPB1 gene with obesity and type-2 diabetes mellitus in South Indian population.1
317000672019LncRNA GABPB1-AS1 and GABPB1 regulate oxidative stress during erastin-induced ferroptosis in HepG2 hepatocellular carcinoma cells.114
298452292018Knockdown of GA-binding protein subunit β1 inhibits cell proliferation via p21 induction in renal cell carcinoma.6
302050502018Disruption of the β1L Isoform of GABP Reverses Glioblastoma Replicative Immortality in a TERT Promoter Mutation-Dependent Manner.74
298452292018Knockdown of GA-binding protein subunit β1 inhibits cell proliferation via p21 induction in renal cell carcinoma.6

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/haematological-explorer/teaching-explorer/gene-fusions-explorer/