Gene Gene information from NCBI Gene database.
Entrez ID 2553
Gene name GA binding protein transcription factor subunit beta 1
Gene symbol GABPB1
Synonyms (NCBI Gene)
BABPB2E4TF1E4TF1-47E4TF1-53E4TF1BGABPBGABPB-1GABPB2NRF2B1NRF2B2
Chromosome 15
Chromosome location 15q21.2
Summary 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.
844
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0000976 Function Transcription cis-regulatory region binding IDA 9857059
GO:0005515 Function Protein binding IPI 10675337, 16189514, 16412436, 19060904, 21516116, 25416956, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 9857059
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600610 4074 ENSG00000104064
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency Pubtator 12016589 Associate
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Cerebral Ischemia LHGDN 16412436
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 29422527 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 33836600 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31700067 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 29845229
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 25844556 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30904536
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 31802036
★☆☆☆☆
Found in Text Mining only