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

    Gene ID: 2551, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GABPAprovided by HGNC
    Official Full Name
    GA binding protein transcription factor subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:4071
    See related
    Ensembl:ENSG00000154727 MIM:600609; AllianceGenome:HGNC:4071
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.9), endometrium (RPKM 11.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GABPA in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (25734972..25772460)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (24092535..24130020)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (27107283..27144771)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene junctional adhesion molecule 2 Neighboring gene uncharacterized LOC124905002 Neighboring gene ferredoxin 1 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:27104507-27105344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13232 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:27107035-27107690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13234 Neighboring gene ATP synthase peripheral stalk subunit F6 Neighboring gene LLPH pseudogene 2 Neighboring gene uncharacterized LOC105372757 Neighboring gene uncharacterized LOC105372756

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Nuclear respiratory factor 2 induces the expression of many but not all human proteins acting in mitochondrial DNA transcription and replication. Bruni F, et al. J Biol Chem, 2010 Feb 5. PMID 19951946, Free PMC Article
    2. Clinical characterisation of the CABP4-related retinal phenotype. Khan AO, et al. Br J Ophthalmol, 2013 Mar. PMID 23099293
    3. Identification of GA-Binding Protein Transcription Factor Alpha Subunit (GABPA) as a Novel Bookmarking Factor. Goto S, et al. Int J Mol Sci, 2019 Mar 4. PMID 30836589, Free PMC Article
    4. The rs12594956 polymorphism in the NRF-2 gene is associated with top-level Spanish athlete's performance status. Eynon N, et al. J Sci Med Sport, 2013 Mar. PMID 22749526
    5. An interaction between Nrf2 polymorphisms and smoking status affects annual decline in FEV1: a longitudinal retrospective cohort study. Masuko H, et al. BMC Med Genet, 2011 Jul 20. PMID 21774808, Free PMC Article

    See all (114) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GABPA-activated TGFBR2 transcription inhibits aggressiveness but is epigenetically erased by oncometabolites in renal cell carcinoma.
      Title: GABPA-activated TGFBR2 transcription inhibits aggressiveness but is epigenetically erased by oncometabolites in renal cell carcinoma.
    2. GABPA Expression in Endometrial Carcinoma: A Prognostic Marker.
      Title: GABPA Expression in Endometrial Carcinoma: A Prognostic Marker.
    3. TERT promoter mutations and GABP transcription factors in carcinogenesis: More foes than friends.
      Title: TERT promoter mutations and GABP transcription factors in carcinogenesis: More foes than friends.
    4. Therefore, we proposed that GABPA cooperates with the states of histone acetylation to act as a novel bookmarking factor which, may negatively regulate transcription during the early G1 phase.
      Title: Identification of GA-Binding Protein Transcription Factor Alpha Subunit (GABPA) as a Novel Bookmarking Factor.
    5. a positive correlation between GABPA and DICER1 expression was seen in multiple types of malignancies. Taken together, despite its stimulatory effect on the mutant TERT promoter and telomerase activation, GABPA may itself act as a tumor suppressor rather than an oncogenic factor to inhibit invasion/metastasis in thyroid carcinomas.
      Title: GABPA inhibits invasion/metastasis in papillary thyroid carcinoma by regulating DICER1 expression.
    6. enhanced ETS factor activity and the transcription of ETS family target genes related to spliceosome function and cell death induction via alternate MCL1 splicing, is reported.
      Title: Golgi stress-induced transcriptional changes mediated by MAPK signaling and three ETS transcription factors regulate MCL1 splicing.
    7. Data indicate the essential role of the GABP transcription factor in activating translocase of inner mitochondrial membrane 23 TIMM23 and TIMM23B expression.
      Title: Expression of the human TIMM23 and TIMM23B genes is regulated by the GABP transcription factor.
    8. Collectively, our data indicate that GABPA inhibits hepatocellular carcinoma cell migration and could serve as a novel biomarker for prognosis
      Title: GABPA predicts prognosis and inhibits metastasis of hepatocellular carcinoma.
    9. CRISPR-mediated reversal of mutant TERT promoters, or deletion of its long-range interacting chromatin, abrogates GABPA binding and long-range interactions, leading to depletion of active histone marks, loss of POL2 recruitment, and suppression of TERT transcription
      Title: Long-Range Chromatin Interactions Drive Mutant TERT Promoter Activation.
    10. potential mechanism of TERT reactivation mediated by a novel long-range chromatin interaction between the TERT promoter on chromosome 5p and a 300-kb upstream region. This permits recruitment of the transcription factor GABPA in mutant TERT promoters but not in wild-type promoters.
      Title: TERT Promoter Mutations Enhance Telomerase Activation by Long-Range Chromatin Interactions.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of megakaryocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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

    NCBI Reference Sequences (RefSeq)

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    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_001197297.2 → NP_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, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Related
      ENSP00000346886.3, ENST00000354828.7
      Conserved Domains (3) summary
      cd08534
      Location:168 → 254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319 → 403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40 → 119
      GABP-alpha; GA-binding protein alpha chain

    2. NM_002040.4 → NP_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, AP000226, BC035031, BG542623, BX117934, BX647755, CB132898, CD674081, CV575645
      Consensus CDS
      CCDS13575.1
      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Related
      ENSP00000382948.3, ENST00000400075.4
      Conserved Domains (3) summary
      cd08534
      Location:168 → 254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319 → 403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40 → 119
      GABP-alpha; GA-binding protein alpha chain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      25734972..25772460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028313.3 → XP_016883802.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Conserved Domains (3) summary
      cd08534
      Location:168 → 254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319 → 403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40 → 119
      GABP-alpha; GA-binding protein alpha chain

    2. XM_047440738.1 → XP_047296694.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    3. XM_047440737.1 → XP_047296693.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    4. XM_024452062.2 → XP_024307830.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Conserved Domains (3) summary
      cd08534
      Location:168 → 254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319 → 403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40 → 119
      GABP-alpha; GA-binding protein alpha chain

    5. XM_047440739.1 → XP_047296695.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    6. XM_005260938.6 → XP_005260995.1  GA-binding protein alpha chain isoform X1

      See identical proteins and their annotated locations for XP_005260995.1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Conserved Domains (3) summary
      cd08534
      Location:168 → 254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319 → 403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40 → 119
      GABP-alpha; GA-binding protein alpha chain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      24092535..24130020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324416.1 → XP_054180391.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    2. XM_054324414.1 → XP_054180389.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    3. XM_054324417.1 → XP_054180392.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    4. XM_054324421.1 → XP_054180396.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    5. XM_054324418.1 → XP_054180393.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    6. XM_054324419.1 → XP_054180394.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    7. XM_054324422.1 → XP_054180397.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    8. XM_054324415.1 → XP_054180390.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48

    9. XM_054324420.1 → XP_054180395.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06546.1 GenPept UniProtKB/Swiss-Prot:Q06546

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