Homo sapiens Gene: GABPA
Summary
InnateDB Gene IDBG-1089.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GABPA
Gene Name GA binding protein transcription factor, alpha subunit 60kDa
Synonyms E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07
Species Homo sapiens
Ensembl Gene ENSG00000154727
Encoded Proteins
GA binding protein transcription factor, alpha subunit 60kDa
GA binding protein transcription factor, alpha subunit 60kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:25734570-25772460
Strand Forward strand
Band q21.3
Transcripts
ENST00000354828 ENSP00000346886
ENST00000400075 ENSP00000382948
ENST00000487266
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 45 [view]
Protein-Protein 34 [view]
Protein-DNA 11 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001701 in utero embryonic development
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0030154 cell differentiation
GO:0045653 negative regulation of megakaryocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Organelle biogenesis and maintenance pathway
Mitochondrial biogenesis pathway
Transcriptional activation of mitochondrial biogenesis pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q06546
TrEMBL A8IE48
UniProt Splice Variant
Entrez Gene 2551
UniGene Hs.473470
RefSeq NM_001197297 NM_002040 XM_005260938 XM_005260939
HUGO HGNC:4071
OMIM 600609
CCDS CCDS13575
HPRD
IMGT
EMBL CH471079 D13318 EU159453 EU627790 JQ313900 U13044
GenPept AAA65706 ABV90873 ACD11490 AFH41795 BAA02575 EAX09967 EAX09968 EAX09969
RNA Seq Atlas 2551