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

Gene ID: 2551, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (25734972..25772460)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (24092535..24130020)
105.20220307 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
  • 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. GABPA Expression in Endometrial Carcinoma: A Prognostic Marker. Ma X, et al. Dis Markers, 2021. PMID 34306255, Free PMC Article
  2. 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
  3. GABPA predicts prognosis and inhibits metastasis of hepatocellular carcinoma. Zhang S, et al. BMC Cancer, 2017 May 26. PMID 28549418, Free PMC Article
  4. Human Lineage-Specific Transcriptional Regulation through GA-Binding Protein Transcription Factor Alpha (GABPa). Perdomo-Sabogal A, et al. Mol Biol Evol, 2016 May. PMID 26814189, Free PMC Article
  5. Clinical characterisation of the CABP4-related retinal phenotype. Khan AO, et al. Br J Ophthalmol, 2013 Mar. PMID 23099293

See all (105) 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
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
part_of 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_2023_10

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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