Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GABPA Gene

Aliases for GABPA Gene

  • GA Binding Protein Transcription Factor Subunit Alpha 2 3
  • GA Binding Protein Transcription Factor Alpha Subunit 2 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
  • 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 Alpha Chain 3
  • 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 Organelle biogenesis and maintenance and Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex. 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 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 , fRNAdb sequence ontologies 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 dbSUPER 650.7 +0.6 629 5.5 CLOCK ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ATP5PF GABPA PIR60960 ENSG00000222042 ENSG00000232512 ENSG00000244278 ENSG00000230379 LOC100419737 LINC01692 MRPL39
GH21J025724 Promoter 0.5 EPDnew 650.4 -10.0 -9969 0.1 GABPA ATP5PF GC21P025693
GH21J025606 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 29.9 -126.9 -126851 2.4 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ZC3H11A MRPL39 GABPA RPL13AP7 LINC00515
GH21J026166 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 13.9 +434.2 434246 5.3 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 APP GC21M026165 ADAMTS5 GABPA RNU6-926P ENSG00000233783 ENSG00000273492 ENSG00000224541
GH21J026138 Enhancer 1.3 Ensembl ENCODE dbSUPER 21.8 +405.4 405414 3.3 FOXA2 FEZF1 FOS ATF7 RXRA ZNF662 REST ZNF491 ATF4 ZNF610 GABPA APP ADAMTS5 ENSG00000224541 GC21P025992
- 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

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 isoforms=359
  • 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

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

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 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12750007
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 22306510
GO:0003677 DNA binding TAS 8441384
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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 IDA 22306510
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

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA,IEA --
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

Unigene Clusters for GABPA Gene

GA binding protein transcription factor, alpha subunit 60kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for GABPA Gene

GeneLoc Exon Structure for
GABPA
ECgene alternative splicing isoforms for
GABPA

Expression for GABPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of GABPA Gene:

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 34 33
  • 99.93 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABPA 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABPA 34 33
  • 93.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GABPA 34 33
  • 93.25 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABPA 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabpa 33
  • 90.9 (n)
mouse
(Mus musculus)
Mammalia Gabpa 16 34 33
  • 89.7 (n)
chicken
(Gallus gallus)
Aves GABPA 34 33
  • 82.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABPA 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabpa 33
  • 78.24 (n)
Str.8903 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.34617 33
zebrafish
(Danio rerio)
Actinopterygii gabpa 34 33
  • 70.08 (n)
OneToOne
e4tf 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13854 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004337 33
  • 53.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ets97D 34 35 33
  • 48.23 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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

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 from dbSNP and Humsavar for GABPA Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000047691 -- 25,740,314(+) G/A intron_variant
rs1000253134 -- 25,743,246(+) TTTTTT/TTTTTTT intron_variant
rs1000273514 -- 25,734,541(+) A/T upstream_transcript_variant
rs1000411806 -- 25,740,480(+) A/G 5_prime_UTR_variant, intron_variant
rs1000431249 -- 25,768,378(+) G/T intron_variant

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 22 58
  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 58
  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 22 58
  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 22 58
  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 22 58

Products for GABPA Gene

Sources for GABPA Gene

Content
Loading form....