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Aliases for GABPA Gene

Aliases for GABPA Gene

  • GA Binding Protein Transcription Factor Alpha Subunit 2 3 5
  • GA Binding Protein Transcription Factor, Alpha Subunit 60kDa 2 3
  • Human Nuclear Respiratory Factor-2 Subunit Alpha 2 3
  • Nuclear Respiratory Factor 2 Alpha Subunit 2 3
  • Nuclear Respiratory Factor 2 Subunit Alpha 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 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 Alpha Subunit) is a Protein Coding gene. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Agrin Interactions at Neuromuscular Junction. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABPA Gene

Genomics for GABPA Gene

Regulatory Elements for GABPA Gene

Promoters for GABPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GABPA on UCSC Golden Path with GeneCards custom track

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

Genomic Location for GABPA Gene

Chromosome:
21
Start:
25,734,570 bp from pter
End:
25,772,460 bp from pter
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

Proteomics data for GABPA Gene at MOPED

Post-translational modifications for GABPA Gene

  • Ubiquitination at Lys 359
  • Modification sites at PhosphoSitePlus

Other Protein References for GABPA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GABPA Gene

Domains & Families for GABPA Gene

Gene Families for GABPA Gene

Graphical View of Domain Structure for InterPro Entry

Q06546

UniProtKB/Swiss-Prot:

GABPA_HUMAN :
  • Contains 1 ETS DNA-binding domain.
  • Belongs to the ETS family.
Domain:
  • Contains 1 ETS DNA-binding domain.
  • Contains 1 PNT (pointed) domain.
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

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
UniProtKB/Swiss-Prot Function:
Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene.

Gene Ontology (GO) - Molecular Function for GABPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12750007
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 10675337
GO:0043565 sequence-specific DNA binding IEA --
GO:0044212 transcription regulatory region DNA binding IDA 9857059
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

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

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
Jensen Localization Image for GABPA Gene COMPARTMENTS Subcellular localization image for GABPA gene
Compartment Confidence
nucleus 5
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for GABPA Gene

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 from RNA polymerase II promoter IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006996 organelle organization TAS --
GO:0007005 mitochondrion organization TAS --
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

(4) Drugs for GABPA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) 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

Unigene Clusters for GABPA Gene

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

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 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, PaxDb, MOPED, and MaxQB for GABPA Gene



SOURCE GeneReport for Unigene cluster for GABPA Gene Hs.473470

genes like me logo Genes that share expression patterns with GABPA: view

Protein tissue co-expression partners for GABPA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GABPA 35
  • 93.25 (n)
  • 98.68 (a)
GABPA 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABPA 35
  • 93.54 (n)
  • 99.12 (a)
GABPA 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabpa 35
  • 89.7 (n)
  • 96.25 (a)
Gabpa 16
Gabpa 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABPA 35
  • 99.93 (n)
  • 100 (a)
GABPA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabpa 35
  • 90.9 (n)
  • 98.24 (a)
oppossum
(Monodelphis domestica)
Mammalia GABPA 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABPA 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABPA 35
  • 82.12 (n)
  • 93.38 (a)
GABPA 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABPA 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabpa 35
  • 78.24 (n)
  • 88.05 (a)
Str.8903 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.34617 35
zebrafish
(Danio rerio)
Actinopterygii e4tf 35
gabpa 35
  • 70.08 (n)
  • 76.99 (a)
gabpa 36
  • 75 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13854 35
fruit fly
(Drosophila melanogaster)
Insecta Ets97D 37
  • 38 (a)
Ets97D 35
  • 48.23 (n)
  • 41.92 (a)
Ets97D 36
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004337 35
  • 53.05 (n)
  • 51.83 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for GABPA:
  • 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)

Paralogs for GABPA Gene

Paralogs for GABPA Gene

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

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 Sequence Context AA Info Type
rs2829897 - 25,764,279(+) TAGTG(C/T)GAAAG reference, missense
rs2829900 - 25,764,684(+) GTGAT(A/G)AAGGT reference, missense
rs2694 -- 25,769,427(+) TGTGT(A/G)TGTTA utr-variant-3-prime
rs1034353 -- 25,743,474(+) TAGGC(A/G)ACAGA intron-variant
rs1062461 -- 25,769,565(+) AAAAA(A/T)AAATG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv913653 CNV Loss 21882294
nsv913654 CNV Loss 21882294

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)

Relevant External Links for GABPA Gene

HapMap Linkage Disequilibrium report
GABPA

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

Disorders for GABPA Gene

Relevant External Links for GABPA

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

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. cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs. (PMID: 8441384) Watanabe H. … Handa H. (Mol. Cell. Biol. 1993) 2 3 4 67
  2. 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. (J. Biol. Chem. 2010) 3 23
  3. 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 Rheum. 2009) 3 23
  4. Methylation-sensitive regulation of TMS1/ASC by the Ets factor, GA-binding protein-alpha. (PMID: 19324871) Lucas M.E. … Vertino P.M. (J. Biol. Chem. 2009) 3 23
  5. In vitro methylation of nuclear respiratory factor-2 binding sites suppresses the promoter activity of the human TOMM70 gene. (PMID: 18852034) Blesa J.R. … HernA!ndez-Yago J. (Gene 2008) 3 23

Products for GABPA Gene

Sources for GABPA Gene

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