GABPA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1AWC, 1SXD, 2JUO
Identifiers
Aliases	GABPA, E4TF1-60, E4TF1A, NFT2, NRF2, NRF2A, RCH04A07, GA binding protein transcription factor alpha subunit, GA binding protein transcription factor subunit alpha
External IDs	OMIM: 600609 MGI: 95610 HomoloGene: 1543 GeneCards: GABPA
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q21.3 Start 25,734,570 bp[1] End 25,772,460 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 C3.3|16 46.92 cM Start 84,631,813 bp[2] End 84,660,667 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon ganglionic eminence thymus synovial membrane smooth muscle tissue synovial joint germinal epithelium lymph node lactiferous duct monocyte Top expressed in Paneth cell dermis abdominal wall atrioventricular valve vas deferens left lung lobe atrium semi-lunar valve iris calvaria More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription coactivator activity chromatin binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleoplasm nucleus Biological process cell differentiation regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II mitochondrion organization in utero embryonic development negative regulation of transcription by RNA polymerase II negative regulation of megakaryocyte differentiation transcription, DNA-templated positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II positive regulation of gene expression cellular response to dopamine blastocyst formation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2551 14390 Ensembl ENSG00000154727 ENSMUSG00000008976 UniProt Q06546 Q8IYS3 Q00422 RefSeq (mRNA) NM_001197297 NM_002040 NM_008065 RefSeq (protein) NP_001184226 NP_002031 NP_002031.2 NP_032091 Location (UCSC) Chr 21: 25.73 – 25.77 Mb Chr 16: 84.63 – 84.66 Mb PubMed search [3] [4]
Wikidata
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GA-binding protein alpha chain is a protein that in humans is encoded by the GABPA gene.^[5]

Function

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 c 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.^[6]

Interactions

GABPA has been shown to interact with Host cell factor C1,^[7] Sp1 transcription factor^[8] and Sp3 transcription factor.^[8]