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 sub... See more...

Aliases for GABPA Gene

Aliases for GABPA Gene

  • GA Binding Protein Transcription Factor Subunit Alpha 2 3 5
  • Human Nuclear Respiratory Factor-2 Subunit Alpha 2 3
  • Nuclear Respiratory Factor 2 Subunit Alpha 3 4
  • Nuclear Respiratory Factor 2 Alpha Subunit 2 3
  • GA-Binding Protein Alpha Chain 3 4
  • Transcription Factor E4TF1-60 3 4
  • GABP Subunit Alpha 3 4
  • E4TF1A 3 4
  • GA-Binding Protein Transcription Factor, Alpha Subunit (60kD) 2
  • GA Binding Protein Transcription Factor, Alpha Subunit 60kDa 2
  • GA Binding Protein Transcription Factor Alpha Subunit 60kDa 3
  • GA Binding Protein Transcription Factor Alpha Subunit 2
  • E4TF1-60 3
  • RCH04A07 3
  • NRF2A 3
  • NFT2 3
  • NRF2 3

External Ids for GABPA Gene

Previous GeneCards Identifiers for GABPA Gene

  • GC21P023686
  • GC21P026023
  • GC21P026029
  • GC21P026028
  • GC21P027106
  • GC07P062691

Summaries for GABPA Gene

Entrez Gene Summary for GABPA Gene

  • 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]

GeneCards Summary for GABPA Gene

GABPA (GA Binding Protein Transcription Factor Subunit Alpha) is a Protein Coding gene. Among its related pathways are Mitochondrial Gene Expression and Agrin Interactions at Neuromuscular Junction. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ETS2.

UniProtKB/Swiss-Prot Summary for GABPA Gene

  • Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene.

Gene Wiki entry for GABPA Gene

Additional gene information for GABPA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABPA Gene

Genomics for GABPA Gene

GeneHancer (GH) Regulatory Elements for GABPA Gene

Promoters and enhancers for GABPA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J025732 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.6 629 5.5 RXRA ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 MYC POLR2G SP1 ATP5PF GABPA piR-37915 MRPL39 lnc-JAM2-1
GH21J025724 Promoter 0.3 EPDnew 500.4 -10.0 -9969 0.1 GABPA piR-57460-422 ATP5PF piR-36393-328 lnc-JAM2-1
GH21J026166 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.9 +434.5 434513 5.8 EP300 CTCF MYC TCF12 POLR2G USF1 ZFX ZNF639 ZNF10 ZIC2 APP ENSG00000273492 lnc-CYYR1-5 lnc-CYYR1-6 ADAMTS5 GABPA RNU6-926P ENSG00000233783 ENSG00000224541
GH21J026135 Enhancer 1.2 Ensembl ENCODE dbSUPER 21.8 +403.6 403631 8 ZNF217 ZSCAN5C TCF12 ZNF300 FOS ZNF510 ZNF662 ATF2 FOXA2 OSR2 GABPA APP RNU6-926P ADAMTS5 ENSG00000224541 lnc-CYYR1-6 lnc-ATP5PF-3
GH21J025606 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11 -127.1 -127070 3 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 MRPL39 GABPA LINC00515 lnc-JAM2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABPA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABPA

Top Transcription factor binding sites by QIAGEN in the GABPA gene promoter:
  • TBP

Genomic Locations for GABPA Gene

Genomic Locations for GABPA Gene
chr21:25,734,570-25,772,460
(GRCh38/hg38)
Size:
37,891 bases
Orientation:
Plus strand
chr21:27,106,881-27,144,771
(GRCh37/hg19)
Size:
37,891 bases
Orientation:
Plus strand

Genomic View for GABPA Gene

Genes around GABPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABPA Gene

Proteins for GABPA Gene

  • Protein details for GABPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06546-GABPA_HUMAN
    Recommended name:
    GA-binding protein alpha chain
    Protein Accession:
    Q06546
    Secondary Accessions:
    • Q12939

    Protein attributes for GABPA Gene

    Size:
    454 amino acids
    Molecular mass:
    51295 Da
    Quaternary structure:
    • Heterotetramer of two alpha and two beta subunits.

neXtProt entry for GABPA Gene

Post-translational modifications for GABPA Gene

  • Ubiquitination at Lys359
  • Modification sites at PhosphoSitePlus

Other Protein References for GABPA Gene

No data available for DME Specific Peptides for GABPA Gene

Domains & Families for GABPA Gene

Gene Families for GABPA Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GABPA Gene

Blocks:
  • Sterile alpha motif (SAM)/Pointed domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GABPA Gene

GenScript: Design optimal peptide antigens:
  • Nuclear respiratory factor 2 alpha subunit (A8IE48_HUMAN)
  • Transcription factor E4TF1-60 (GABPA_HUMAN)
  • GA binding protein transcription factor, alpha subunit 60kDa (Q8IYS3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06546

UniProtKB/Swiss-Prot:

GABPA_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with GABPA: view

Function for GABPA Gene

Molecular function for GABPA Gene

UniProtKB/Swiss-Prot Function:
Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene.
GENATLAS Biochemistry:
GA binding protein,alpha subunit with an ETS related domain,component of the nuclear respiratory factor 2,ubiquitously expressed,interacting with the four ankyrin-type repeats to form a high affinity DNA-binding complex recognizing an important site for herpes simplex virus type I activation,putatively involved in the activation of nuclear genes specifying mitochondrial function

Phenotypes From GWAS Catalog for GABPA Gene

Gene Ontology (GO) - Molecular Function for GABPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12750007
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 12750007
GO:0003677 DNA binding TAS 8441384
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with GABPA: view
genes like me logo Genes that share phenotypes with GABPA: view

Animal Models for GABPA Gene

MGI Knock Outs for GABPA:

Animal Model Products

CRISPR Products

Targeted motifs for GABPA Gene
HOMER Transcription Factor Regulatory Elements motif GABPA
  • Consensus sequence: AACCGGAAGT Submotif: canonical Cell Type: Jurkat GEO ID: GSE17954

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABPA

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for GABPA Gene

Localization for GABPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABPA Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABPA gene
Compartment Confidence
nucleus 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GABPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA,IDA --
GO:0005634 nucleus IDA 9857059
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with GABPA: view

Pathways & Interactions for GABPA Gene

genes like me logo Genes that share pathways with GABPA: view

Pathways by source for GABPA Gene

Gene Ontology (GO) - Biological Process for GABPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001825 blastocyst formation IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with GABPA: view

No data available for SIGNOR curated interactions for GABPA Gene

Drugs & Compounds for GABPA Gene

(5) Drugs for GABPA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for GABPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GABPA: view

Transcripts for GABPA Gene

mRNA/cDNA for GABPA Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABPA

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABPA Gene

No ASD Table

Relevant External Links for GABPA Gene

GeneLoc Exon Structure for
GABPA

Expression for GABPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABPA Gene

Protein differential expression in normal tissues from HIPED for GABPA Gene

This gene is overexpressed in Lymph node (13.6), Peripheral blood mononuclear cells (13.2), and Blymphocyte (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GABPA Gene



Protein tissue co-expression partners for GABPA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABPA

SOURCE GeneReport for Unigene cluster for GABPA Gene:

Hs.473470

Evidence on tissue expression from TISSUES for GABPA Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with GABPA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABPA Gene

Orthologs for GABPA Gene

This gene was present in the common ancestor of animals.

Orthologs for GABPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABPA 31 30
  • 99.93 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABPA 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABPA 31 30
  • 93.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GABPA 31 30
  • 93.25 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABPA 31
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabpa 30
  • 90.9 (n)
mouse
(Mus musculus)
Mammalia Gabpa 17 31 30
  • 89.7 (n)
chicken
(Gallus gallus)
Aves GABPA 31 30
  • 82.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABPA 31
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabpa 30
  • 78.24 (n)
Str.8903 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.34617 30
zebrafish
(Danio rerio)
Actinopterygii gabpa 31 30
  • 70.08 (n)
OneToOne
e4tf 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13854 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004337 30
  • 53.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ets97D 31 32 30
  • 48.23 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToOne
Species where no ortholog for GABPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GABPA Gene

ENSEMBL:
Gene Tree for GABPA (if available)
TreeFam:
Gene Tree for GABPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABPA: view image

Paralogs for GABPA Gene

(3) SIMAP similar genes for GABPA Gene using alignment to 3 proteins:

  • GABPA_HUMAN
  • A8IE48_HUMAN
  • Q8IYS3_HUMAN

Pseudogenes.org Pseudogenes for GABPA Gene

genes like me logo Genes that share paralogs with GABPA: view

Variants for GABPA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABPA Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
733491 Benign: not provided 25,764,304(+) G/A SYNONYMOUS_VARIANT
773920 Benign: not provided 25,752,218(+) C/T SYNONYMOUS_VARIANT
rs2829897 - p.Ala291Val
rs2829900 - p.Glu345Lys

Additional dbSNP identifiers (rs#s) for GABPA Gene

Structural Variations from Database of Genomic Variants (DGV) for GABPA Gene

Variant ID Type Subtype PubMed ID
nsv1064561 CNV loss 25217958
nsv965977 CNV duplication 23825009

Variation tolerance for GABPA Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABPA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABPA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABPA Gene

Disorders for GABPA Gene

Additional Disease Information for GABPA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GABPA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GABPA Gene

Publications for GABPA Gene

  1. Four structurally distinct, non-DNA-binding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain. (PMID: 7799916) Gugneja S … Scarpulla RC (Molecular and cellular biology 1995) 3 4 23 54
  2. cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs. (PMID: 8441384) Watanabe H … Handa H (Molecular and cellular biology 1993) 2 3 4 54
  3. Nuclear respiratory factor 2 induces the expression of many but not all human proteins acting in mitochondrial DNA transcription and replication. (PMID: 19951946) Bruni F … Roberti M (The Journal of biological chemistry 2010) 3 23 54
  4. Methylation-sensitive regulation of TMS1/ASC by the Ets factor, GA-binding protein-alpha. (PMID: 19324871) Lucas ME … Vertino PM (The Journal of biological chemistry 2009) 3 23 54
  5. Activation of synoviolin promoter in rheumatoid synovial cells by a novel transcription complex of interleukin enhancer binding factor 3 and GA binding protein alpha. (PMID: 19116932) Izumi T … Nakajima T (Arthritis and rheumatism 2009) 3 23 54

Products for GABPA Gene

Sources for GABPA Gene