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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs80042819 RCV005929356
Melanoma Likely benign rs80042819 RCV005929359
Sarcoma Likely benign rs80042819 RCV005929357
Thymoma Likely benign rs80042819 RCV005929358
Associations from Text MiningDisease associations identified through Pubtator
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