This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been re... See more...

Aliases for GABPB1 Gene

Aliases for GABPB1 Gene

  • GA Binding Protein Transcription Factor Subunit Beta 1 2 3 5
  • GABPB 2 3 4
  • GA-Binding Protein Subunit Beta-1 3 4
  • Transcription Factor E4TF1-47 3 4
  • Transcription Factor E4TF1-53 3 4
  • Nuclear Respiratory Factor 2 3 4
  • GABP Subunit Beta-2 3 4
  • E4TF1-47 2 3
  • GABPB-1 3 4
  • E4TF1B 3 4
  • GABPB2 3 4
  • GA Binding Protein Transcription Factor Beta Subunit 1 Transcript Variant Gamma-2 3
  • GA Binding Protein Transcription Factor, Beta Subunit 2 2
  • GA Binding Protein Transcription Factor Beta Subunit 1 2
  • GABP Subunit Beta-1 4
  • E4TF1-53 3
  • GABPB-2 4
  • BABPB2 3
  • NRF2B1 3
  • NRF2B2 3
  • GABPB1 5
  • E4TF1 3

External Ids for GABPB1 Gene

Previous HGNC Symbols for GABPB1 Gene

  • GABPB2

Previous GeneCards Identifiers for GABPB1 Gene

  • GC15M046126
  • GC15M043615
  • GC15M048358
  • GC15M050569
  • GC15M027400

Summaries for GABPB1 Gene

Entrez Gene Summary for GABPB1 Gene

  • This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABPB1 Gene

GABPB1 (GA Binding Protein Transcription Factor Subunit Beta 1) is a Protein Coding gene. Diseases associated with GABPB1 include Autoimmune Optic Neuritis. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is GABPB2.

UniProtKB/Swiss-Prot Summary for GABPB1 Gene

  • Transcription factor capable of interacting with purine rich repeats (GA repeats) (PubMed:8441384, PubMed:10675337, PubMed:8816484). Acts as a a master regulator of nuclear-encoded mitochondrial genes (By similarity).
  • (Microbial infection) Necessary for the expression of the Adenovirus E4 gene.

Gene Wiki entry for GABPB1 Gene

Additional gene information for GABPB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABPB1 Gene

Genomics for GABPB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABPB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABPB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABPB1

Top Transcription factor binding sites by QIAGEN in the GABPB1 gene promoter:
  • AhR
  • aMEF-2
  • c-Ets-1
  • E47
  • FOXC1
  • Lmo2
  • MEF-2
  • MEF-2A
  • RREB-1
  • Tal-1

Genomic Locations for GABPB1 Gene

Genomic Locations for GABPB1 Gene
chr15:50,275,389-50,359,306
(GRCh38/hg38)
Size:
83,918 bases
Orientation:
Minus strand
chr15:50,569,389-50,647,605
(GRCh37/hg19)
Size:
78,217 bases
Orientation:
Minus strand

Genomic View for GABPB1 Gene

Genes around GABPB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABPB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABPB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABPB1 Gene

Proteins for GABPB1 Gene

  • Protein details for GABPB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06547-GABP1_HUMAN
    Recommended name:
    GA-binding protein subunit beta-1
    Protein Accession:
    Q06547
    Secondary Accessions:
    • A8IE52
    • Q06545
    • Q12940
    • Q12941
    • Q12942
    • Q8IYD0

    Protein attributes for GABPB1 Gene

    Size:
    395 amino acids
    Molecular mass:
    42483 Da
    Quaternary structure:
    • Heterotetramer of two alpha and two beta subunits (PubMed:7799916). Interacts with HCFC1, causing repression of transcriptional activity (PubMed:10675337).

    Alternative splice isoforms for GABPB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABPB1 Gene

Post-translational modifications for GABPB1 Gene

  • Acetylated by EP300/p300. Deacetylated by SIRT7, promoting heterotetramerization and activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GABPB1 Gene

Domains & Families for GABPB1 Gene

Gene Families for GABPB1 Gene

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

Protein Domains for GABPB1 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for GABPB1 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor E4TF1-53 (GABP1_HUMAN)
genes like me logo Genes that share domains with GABPB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GABPB1 Gene

Function for GABPB1 Gene

Molecular function for GABPB1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor capable of interacting with purine rich repeats (GA repeats) (PubMed:8441384, PubMed:10675337, PubMed:8816484). Acts as a a master regulator of nuclear-encoded mitochondrial genes (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Necessary for the expression of the Adenovirus E4 gene.
GENATLAS Biochemistry:
GA binding protein,beta subunit 1,component of the nuclear respiratory factor 1,interacting with GABPA 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 GABPB1 Gene

Gene Ontology (GO) - Molecular Function for GABPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA, IBA 9857059
GO:0003700 DNA-binding transcription factor activity TAS 8441384
GO:0005515 protein binding IPI 10675337
GO:0044212 transcription regulatory region DNA binding IDA --
genes like me logo Genes that share ontologies with GABPB1: view
genes like me logo Genes that share phenotypes with GABPB1: view

Animal Models for GABPB1 Gene

MGI Knock Outs for GABPB1:

Animal Model Products

CRISPR Products

miRNA for GABPB1 Gene

miRTarBase miRNAs that target GABPB1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABPB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GABPB1 Gene

Localization for GABPB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABPB1 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 GABPB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
mitochondrion 3
cytosol 3
peroxisome 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytoplasmic bodies (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GABPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9857059
GO:0005654 nucleoplasm TAS --
GO:0036464 cytoplasmic ribonucleoprotein granule IDA --
genes like me logo Genes that share ontologies with GABPB1: view

Pathways & Interactions for GABPB1 Gene

genes like me logo Genes that share pathways with GABPB1: view

SIGNOR curated interactions for GABPB1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for GABPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II TAS 8441384
GO:0007005 mitochondrion organization TAS --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 9857059
genes like me logo Genes that share ontologies with GABPB1: view

Drugs & Compounds for GABPB1 Gene

No Compound Related Data Available

Transcripts for GABPB1 Gene

mRNA/cDNA for GABPB1 Gene

7 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
11 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 GABPB1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABPB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for GABPB1 Gene

GeneLoc Exon Structure for
GABPB1

Expression for GABPB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABPB1 Gene

Protein differential expression in normal tissues from HIPED for GABPB1 Gene

This gene is overexpressed in Pancreas (41.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GABPB1 Gene



Protein tissue co-expression partners for GABPB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABPB1

SOURCE GeneReport for Unigene cluster for GABPB1 Gene:

Hs.654350

Evidence on tissue expression from TISSUES for GABPB1 Gene

  • Nervous system(3.6)
  • Lung(2.8)
  • Muscle(2.4)
  • Heart(2.2)
  • Skin(2.2)
  • Liver(2.1)
  • Kidney(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with GABPB1: 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 GABPB1 Gene

Orthologs for GABPB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABPB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABPB1 30 31
  • 99.83 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABPB1 31
  • 99 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GABPB1 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GABPB1 30 31
  • 95.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GABPB1 30 31
  • 95.11 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabpb1 30 17 31
  • 91.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabpb1l 30
  • 91.04 (n)
Chicken
(Gallus gallus)
Aves GABPB1 30 31
  • 85.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABPB1 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabpb1 30
  • 82.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabpb1 30
  • 66.47 (n)
GABPB1 31
  • 54 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Atac3 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
Species where no ortholog for GABPB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 GABPB1 Gene

ENSEMBL:
Gene Tree for GABPB1 (if available)
TreeFam:
Gene Tree for GABPB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABPB1: view image

Paralogs for GABPB1 Gene

Paralogs for GABPB1 Gene

(41) SIMAP similar genes for GABPB1 Gene using alignment to 5 proteins:

  • GABP1_HUMAN
  • F5H7I4_HUMAN
  • H0YMZ5_HUMAN
  • H0YNZ0_HUMAN
  • H9ZYI9_HUMAN
genes like me logo Genes that share paralogs with GABPB1: view

Variants for GABPB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABPB1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
VAR_035613 A colorectal cancer sample p.Pro31Ala

Additional dbSNP identifiers (rs#s) for GABPB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GABPB1 Gene

Variant ID Type Subtype PubMed ID
esv2087264 CNV deletion 18987734
esv2749679 CNV deletion 23290073
esv2749680 CNV deletion 23290073
esv275353 CNV loss 21479260
esv3552428 CNV deletion 23714750
nsv1122965 CNV deletion 24896259
nsv1122966 CNV deletion 24896259
nsv1149358 CNV deletion 26484159
nsv819649 CNV loss 19587683

Variation tolerance for GABPB1 Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABPB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABPB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABPB1 Gene

Disorders for GABPB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GABPB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autoimmune optic neuritis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABPB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GABPB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABPB1 Gene

Publications for GABPB1 Gene

  1. Interaction between SNPs in the NRF2 gene and elite endurance performance. (PMID: 20028934) Eynon N … Meckel Y (Physiological genomics 2010) 3 23 41
  2. 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
  3. The novel coactivator C1 (HCF) coordinates multiprotein enhancer formation and mediates transcription activation by GABP. (PMID: 10675337) Vogel JL … Kristie TM (The EMBO journal 2000) 3 4
  4. Nuclear respiratory factors 1 and 2 utilize similar glutamine-containing clusters of hydrophobic residues to activate transcription. (PMID: 8816484) Gugneja S … Scarpulla RC (Molecular and cellular biology 1996) 3 4
  5. Molecular and genetic characterization of GABP beta. (PMID: 7958862) de la Brousse FC … McKnight SL (Genes & development 1994) 2 3

Products for GABPB1 Gene

  • Signalway Proteins for GABPB1

Sources for GABPB1 Gene