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

Summary

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

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_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
GABPA Expression in Endometrial Carcinoma: A Prognostic Marker.
Title: GABPA Expression in Endometrial Carcinoma: A Prognostic Marker.
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.
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.
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.
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.
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.
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.
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.
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)

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

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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

RH18000 (e-PCR)
- UniSTS:13351

RH69339 (e-PCR)
- UniSTS:91245

D21S386 (e-PCR)
- UniSTS:147855

GABPA_8360 (e-PCR)
- UniSTS:468432

SHGC-52145 (e-PCR)
- UniSTS:79570

D21S1963 (e-PCR)
- UniSTS:81900

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)

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
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

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

25734972..25772460

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_047440737.1 → XP_047296693.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
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
XM_047440739.1 → XP_047296695.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
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

NC_060945.1 Alternate T2T-CHM13v2.0

Range

24092535..24130020

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_054324414.1 → XP_054180389.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_054324417.1 → XP_054180392.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_054324421.1 → XP_054180396.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_054324418.1 → XP_054180393.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_054324419.1 → XP_054180394.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_054324422.1 → XP_054180397.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_054324415.1 → XP_054180390.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48
XM_054324420.1 → XP_054180395.1 GA-binding protein alpha chain isoform X1

UniProtKB/Swiss-Prot

Q06546, Q12939

UniProtKB/TrEMBL

A8IE48