Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2553
Gene name Gene Name - the full gene name approved by the HGNC.
GA binding protein transcription factor subunit beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GABPB1
Synonyms (NCBI Gene) Gene synonyms aliases
BABPB2, E4TF1, E4TF1-47, E4TF1-53, E4TF1B, GABPB, GABPB-1, GABPB2, NRF2B1, NRF2B2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 oxid
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024412 hsa-miR-215-5p Microarray 19074876
MIRT024412 hsa-miR-215-5p Microarray 19074876
MIRT613022 hsa-miR-1226-3p HITS-CLIP 19536157
MIRT613021 hsa-miR-4733-3p HITS-CLIP 19536157
MIRT613020 hsa-miR-6511a-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 9857059
GO:0005515 Function Protein binding IPI 10675337, 16189514, 16412436, 19060904, 21516116, 25416956, 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 9857059
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600610 4074 ENSG00000104064
Protein
UniProt ID Q06547
Protein name GA-binding protein subunit beta-1 (GABP subunit beta-1) (GABPB-1) (GABP subunit beta-2) (GABPB-2) (Nuclear respiratory factor 2) (Transcription factor E4TF1-47) (Transcription factor E4TF1-53)
Protein function Transcription factor capable of interacting with purine rich repeats (GA repeats) (PubMed:10675337, PubMed:8441384, PubMed:8816484). Acts as a master regulator of nuclear-encoded mitochondrial genes (By similarity). {ECO:0000250|UniProtKB:Q00420
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 10 101 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 72 134 Ankyrin repeats (3 copies) Repeat
Sequence
MSLVDLGKKLLEAARAGQDDEVRILMANGAPFTTDWLGTSPLHLAAQYGHYSTTEVLLRA
GVSRDARTKVD
RTPLHMAASEGHASIVEVLLKHGADVNAKDMLKMTALHWATEHNHQEVV
ELLIKYGADVHTQS
KFCKTAFDISIDNGNEDLAEILQIAMQNQINTNPESPDTVTIHAAT
PQFIIGPGGVVNLTGLVSSENSSKATDETGVSAVQFGNSSTSVLATLAALAEASAPLSNS
SETPVVATEEVVTAESVDGAIQQVVSSGGQQVITIVTDGIQLGNLHSIPTSGIGQPIIVT
MPDGQQVLTVPATDIAEETVISEEPPAKRQCIEIIENRVESAEIEEREALQKQLDEANRE
AQKYRQQLLKKEQEAEAYRQKLEAMTRLQTNKEAV
Sequence length 395
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Transcriptional activation of mitochondrial biogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenylosuccinate lyase deficiency Associate 12016589
Carcinogenesis Associate 29422527
Carcinogenesis Stimulate 33836600
Carcinoma Hepatocellular Associate 31700067
Carcinoma Non Small Cell Lung Inhibit 37304650
Depressive Disorder Associate 25844556
Glioblastoma Associate 35460557, 35658846, 36997627
Glioma Associate 30984540
Hyperlipidemia Familial Combined Associate 18230803
Leukemia Lymphocytic Chronic B Cell Associate 21134984