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    GABPA GA binding protein transcription factor alpha subunit [ Homo sapiens (human) ]

    Gene ID: 2551, updated on 8-Jun-2017
    Official Symbol
    GABPAprovided by HGNC
    Official Full Name
    GA binding protein transcription factor alpha subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4071
    See related
    Ensembl:ENSG00000154727 MIM:600609; Vega:OTTHUMG00000078443
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NFT2; NRF2; NRF2A; E4TF1A; E4TF1-60; RCH04A07
    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]
    Orthologs
    Location:
    21q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (25734947..25772460)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (27107258..27144771)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene RNA guanylyltransferase and 5'-phosphatase pseudogene 1 Neighboring gene junctional adhesion molecule 2 Neighboring gene ferredoxin 1 pseudogene 2 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6 Neighboring gene LLP homolog, long-term synaptic facilitation pseudogene 2 Neighboring gene uncharacterized LOC105372757 Neighboring gene uncharacterized LOC105372756

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Epigallocatechin-3-gallate (EGCG)-mediated inhibition of HIV-1 Tat-induced LTR transactivation involves activation of Nrf2 and AMPK signaling pathways and inhibition of AKT signaling pathway in MAGI cells PubMed
    tat Overexpression of Nrf2 or Keap1 knockdown by siRNA inhibits Tat-induced HIV-1 LTR transactivation in MAGI cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Allograft Rejection, organism-specific biosystem (from WikiPathways)
      Allograft Rejection, organism-specific biosystemThis pathway illustrates molecular interactions involved in the fundamental adaptive immune response for allograft destruction. This pathway was adapted in large part from the KEGG pathway http://www...
    • Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystemGABP alpha/beta complex mediates the maintenance of hematopoietic stem cells (HSCs) through control of proteins necessary for epigenetic modification and transcription regulation. The activation of k...
    • Mitochondrial Gene Expression, organism-specific biosystem (from WikiPathways)
      Mitochondrial Gene Expression, organism-specific biosystemNumerous nuclear-encoded genes co-ordinate the expression of genes encoded on the mitochondrial genome.
    • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular response to dopamine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion organization TAS
    Traceable Author Statement
    more info
     
    negative regulation of megakaryocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    GA-binding protein alpha chain
    Names
    GA binding protein transcription factor alpha subunit 60kDa
    GABP subunit alpha
    human nuclear respiratory factor-2 subunit alpha
    nuclear respiratory factor 2 alpha subunit
    nuclear respiratory factor 2 subunit alpha
    transcription factor E4TF1-60

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001197297.1NP_001184226.1  GA-binding protein alpha chain

      See identical proteins and their annotated locations for NP_001184226.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AP000226, BU683067, BX647755
      Consensus CDS
      CCDS13575.1
      UniProtKB/Swiss-Prot
      Q06546
      UniProtKB/TrEMBL
      A8IE48
      Related
      ENSP00000346886.3, OTTHUMP00000096114, ENST00000354828.7, OTTHUMT00000171365
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain
    2. NM_002040.3NP_002031.2  GA-binding protein alpha chain

      See identical proteins and their annotated locations for NP_002031.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AI917898, BC035031, BG542623, BX117934, BX647755, CB132898, CD674081, CV575645
      Consensus CDS
      CCDS13575.1
      UniProtKB/Swiss-Prot
      Q06546
      UniProtKB/TrEMBL
      A8IE48, Q8IYS3
      Related
      ENSP00000382948.3, OTTHUMP00000096113, ENST00000400075.3, OTTHUMT00000171364
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      25734947..25772460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529521.2XP_011527823.1  GA-binding protein alpha chain isoform X1

      See identical proteins and their annotated locations for XP_011527823.1

      UniProtKB/Swiss-Prot
      Q06546
      UniProtKB/TrEMBL
      A8IE48
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain
    2. XM_011529520.2XP_011527822.1  GA-binding protein alpha chain isoform X1

      See identical proteins and their annotated locations for XP_011527822.1

      UniProtKB/Swiss-Prot
      Q06546
      UniProtKB/TrEMBL
      A8IE48
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain
    3. XM_005260938.4XP_005260995.1  GA-binding protein alpha chain isoform X1

      See identical proteins and their annotated locations for XP_005260995.1

      UniProtKB/Swiss-Prot
      Q06546
      UniProtKB/TrEMBL
      A8IE48
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain
    4. XM_017028313.1XP_016883802.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546
      UniProtKB/TrEMBL
      A8IE48
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      26667879..26705392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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