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Aliases for GATA1 Gene

Aliases for GATA1 Gene

  • GATA Binding Protein 1 (Globin Transcription Factor 1) 2 3
  • ERYF1 3 4 6
  • GF1 3 4 6
  • NF-E1 DNA-Binding Protein 3 4
  • GATA-Binding Factor 1 3 4
  • GATA-1 3 4
  • XLANP 3 6
  • XLTDA 3 6
  • NFE1 3 6
  • XLTT 3 6
  • GF-1 3 4
  • GATA-Binding Protein 1 (Globin Transcription Factor 1) 2
  • Erythroid Transcription Factor 1 3
  • Erythroid Transcription Factor 3
  • Globin Transcription Factor 1 3
  • Nuclear Factor, Erythroid 1 3
  • Transcription Factor GATA1 3
  • Nuclear Factor 2
  • Erythroid 1 2
  • NF-E1 3

External Ids for GATA1 Gene

Previous HGNC Symbols for GATA1 Gene

  • GF1

Previous GeneCards Identifiers for GATA1 Gene

  • GC0XP047447
  • GC0XP046905
  • GC0XP047690
  • GC0XP048401
  • GC0XP048529
  • GC0XP048644
  • GC0XP046304

Summaries for GATA1 Gene

Entrez Gene Summary for GATA1 Gene

  • This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]

GeneCards Summary for GATA1 Gene

GATA1 (GATA Binding Protein 1 (Globin Transcription Factor 1)) is a Protein Coding gene. Diseases associated with GATA1 include thrombocytopenia, x-linked, with or without dyserythropoietic anemia and thrombocytopenia with beta-thalassemia, x-linked. Among its related pathways are Hemostasis and G-AlphaQ Signaling. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is GATA5.

UniProtKB/Swiss-Prot for GATA1 Gene

  • Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5-[AT]GATA[AG]-3 within regulatory regions of globin genes and of other genes expressed in erythroid cells.

Gene Wiki entry for GATA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATA1 Gene

Genomics for GATA1 Gene

Regulatory Elements for GATA1 Gene

Transcription factor binding sites by QIAGEN in the GATA1 gene promoter:

Genomic Location for GATA1 Gene

Start:
48,786,554 bp from pter
End:
48,794,311 bp from pter
Size:
7,758 bases
Orientation:
Plus strand

Genomic View for GATA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GATA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATA1 Gene

Proteins for GATA1 Gene

  • Protein details for GATA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15976-GATA1_HUMAN
    Recommended name:
    Erythroid transcription factor
    Protein Accession:
    P15976
    Secondary Accessions:
    • Q96GB8

    Protein attributes for GATA1 Gene

    Size:
    413 amino acids
    Molecular mass:
    42751 Da
    Quaternary structure:
    • May form homodimers or heterodimers with other isoforms. Interacts (via the N-terminal zinc finger) with ZFPM1. Interacts with GFI1B. Interacts with PIAS4; the interaction enhances sumoylation and represses the transactivational activity in a sumoylation-independent manner. Interacts with LMCD1. Interacts with BRD3 (By similarity). Interacts with CREBBP; the interaction stimulates acetylation and transcriptional activity in vivo (By similarity). Interacts with EP300.

    Alternative splice isoforms for GATA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATA1 Gene

Proteomics data for GATA1 Gene at MOPED

Post-translational modifications for GATA1 Gene

  • Acetylated at 2 conserved lysine-rich motifs by CREBBP in vitro. Acetylation does not affect DNA-binding in vitro but is essential to induce erythroid differentiation and for binding chromatin in vivo (By similarity). Acetylated on Lys-233, Lys-245 Lys-246 by EP300.
  • Highly phosphorylated on serine residues. Phosphorylation on Ser-310 is enhanced on erythroid differentiation. Phosphorylation on Ser-142 promotes sumoylation on Lys-137 (By similarity).
  • Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation with SUMO1 has no effect on transcriptional activity (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GATA1 Gene

Domains for GATA1 Gene

Gene Families for GATA1 Gene

HGNC:
  • GATAD :GATA zinc finger domain containing

Protein Domains for GATA1 Gene

Suggested Antigen Peptide Sequences for GATA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15976

UniProtKB/Swiss-Prot:

GATA1_HUMAN :
  • P15976
Domain:
  • The two fingers are functionally distinct and cooperate to achieve specific, stable DNA binding. The first finger is necessary only for full specificity and stability of binding, whereas the second one is required for binding (By similarity).
Similarity:
  • Contains 2 GATA-type zinc fingers.
genes like me logo Genes that share domains with GATA1: view

Function for GATA1 Gene

Molecular function for GATA1 Gene

GENATLAS Biochemistry: erythroid specific transcription factor,GATA sequence binding protein (same as EryF1,NF-E1,EF-1,EF gamma-a,GF1),expressed in RBC,mast cell,megakaryocyte,hematopoietic progenitor cell,testis,associated with a special class of nuclear bodies,activated by erythropoietin,inactivated by coactivation of DEATH receptors (TNFRSF6) mediated caspase cleavage
UniProtKB/Swiss-Prot Function: Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5-[AT]GATA[AG]-3 within regulatory regions of globin genes and of other genes expressed in erythroid cells.

Gene Ontology (GO) - Molecular Function for GATA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IMP 10700180
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 2467208
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IMP 20133935
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity --
genes like me logo Genes that share ontologies with GATA1: view
genes like me logo Genes that share phenotypes with GATA1: view

Animal Models for GATA1 Gene

MGI Knock Outs for GATA1:

miRNA for GATA1 Gene

miRTarBase miRNAs that target GATA1

Transcription Factor Targeting for GATA1 Gene

Selected GeneGlobe predicted Target genes for GATA1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for GATA1 Gene

Localization for GATA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATA1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GATA1 Gene COMPARTMENTS Subcellular localization image for GATA1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for GATA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10700180
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 15920471
GO:0017053 transcriptional repressor complex IDA 15920471
genes like me logo Genes that share ontologies with GATA1: view

Pathways for GATA1 Gene

genes like me logo Genes that share pathways with GATA1: view

Pathways by source for GATA1 Gene

Gene Ontology (GO) - Biological Process for GATA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 22235304
GO:0001701 in utero embryonic development IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter IDA 2467208
GO:0007267 cell-cell signaling IEA --
genes like me logo Genes that share ontologies with GATA1: view

Compounds for GATA1 Gene

(32) Novoseek inferred chemical compound relationships for GATA1 Gene

Compound -log(P) Hits PubMed IDs
aclacinomycin 78.5 9
porphobilinogen 66.4 7
zinc 57.1 46
cytarabine 41.5 3
aclarubicin 39.1 1
genes like me logo Genes that share compounds with GATA1: view

Transcripts for GATA1 Gene

mRNA/cDNA for GATA1 Gene

(18) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GATA1 Gene

GATA binding protein 1 (globin transcription factor 1):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GATA1 Gene

No ASD Table

Relevant External Links for GATA1 Gene

GeneLoc Exon Structure for
GATA1
ECgene alternative splicing isoforms for
GATA1

Expression for GATA1 Gene

mRNA expression in normal human tissues for GATA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GATA1 Gene

This gene is overexpressed in Whole Blood (41.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GATA1 Gene

SOURCE GeneReport for Unigene cluster for GATA1 Gene Hs.765

mRNA Expression by UniProt/SwissProt for GATA1 Gene

P15976-GATA1_HUMAN
Tissue specificity: Erythrocytes.
genes like me logo Genes that share expressions with GATA1: view

Orthologs for GATA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GATA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GATA1 35
  • 99.05 (n)
  • 98.86 (a)
cow
(Bos Taurus)
Mammalia GATA1 35
  • 88.32 (n)
  • 92.89 (a)
GATA1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATA1 35
  • 89.65 (n)
  • 94.15 (a)
mouse
(Mus musculus)
Mammalia Gata1 35
  • 83.29 (n)
  • 85.96 (a)
Gata1 16
Gata1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GATA1 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATA1 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911167 35
  • 84.83 (n)
  • 86.2 (a)
lizard
(Anolis carolinensis)
Reptilia GATA1 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497467 35
  • 58.42 (n)
  • 60.73 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
gata1a 35
  • 60.85 (n)
  • 62.3 (a)
gata1a 36
  • 41 (a)
OneToMany
gata1b 36
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta grn 36
  • 19 (a)
OneToMany
grn 37
  • 80 (a)
pnr 37
  • 77 (a)
worm
(Caenorhabditis elegans)
Secernentea elt-1 36
  • 25 (a)
OneToMany
elt-1 37
  • 68 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL80 36
  • 19 (a)
ManyToMany
GAT1 36
  • 13 (a)
ManyToMany
GLN3 36
  • 10 (a)
ManyToMany
GZF3 36
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10440 36
  • 19 (a)
ManyToMany
Species with no ortholog for GATA1:
  • A. gosspyii yeast (Ashbya 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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 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)

Evolution for GATA1 Gene

ENSEMBL:
Gene Tree for GATA1 (if available)
TreeFam:
Gene Tree for GATA1 (if available)

Paralogs for GATA1 Gene

Paralogs for GATA1 Gene

Selected SIMAP similar genes for GATA1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GATA1: view

Variants for GATA1 Gene

Sequence variations from dbSNP and Humsavar for GATA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1126581 -- 48,794,225(+) GAATT(C/T)TGGAC utr-variant-3-prime
rs1126582 -- 48,794,242(+) AGTCT(C/T)TGGGC utr-variant-3-prime
rs2293950 -- 48,792,970(+) CCCCA(C/T)AGAAT intron-variant
rs5906709 -- 48,788,498(+) AGCAA(A/G)ACACT intron-variant
rs12841023 -- 48,791,160(+) CCCCA(C/G)TTTGT missense, reference

Structural Variations from Database of Genomic Variants (DGV) for GATA1 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680
nsv6893 CNV Insertion 18451855
esv28934 CNV Gain 19812545

Relevant External Links for GATA1 Gene

HapMap Linkage Disequilibrium report
GATA1
Human Gene Mutation Database (HGMD)
GATA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA1 Gene

Disorders for GATA1 Gene

(4) OMIM Diseases for GATA1 Gene (305371)

UniProtKB/Swiss-Prot

GATA1_HUMAN
  • X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]: Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes. {ECO:0000269 PubMed:10700180, ECO:0000269 PubMed:11418466, ECO:0000269 PubMed:11675338, ECO:0000269 PubMed:11809723}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050]: An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor. {ECO:0000269 PubMed:12200364}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Anemia without thrombocytopenia, X-linked (XLAWT) [MIM:300835]: A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals. {ECO:0000269 PubMed:16783379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GATA1 Gene

(43) Novoseek inferred disease relationships for GATA1 Gene

Disease -log(P) Hits PubMed IDs
megakaryoblastic leukemia acute 93.3 33
dyserythropoietic anemia 82.4 5
erythroleukemia 81.6 19
down syndrome 77.1 91
myeloproliferative disorders 76.2 19

Relevant External Links for GATA1

GeneTests
GATA1
GeneReviews
GATA1
Genetic Association Database (GAD)
GATA1
Human Genome Epidemiology (HuGE) Navigator
GATA1
genes like me logo Genes that share disorders with GATA1: view

Publications for GATA1 Gene

  1. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. (PMID: 11809723) Freson K. … Van Geet C. (Hum. Mol. Genet. 2002) 3 4 23 48
  2. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. (PMID: 12200364) Yu C. … Raskind W.H. (Blood 2002) 3 4 23
  3. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. (PMID: 11418466) Freson K. … Van Geet C. (Blood 2001) 3 4 23
  4. X-linked thrombocytopenia caused by a novel mutation of GATA-1. (PMID: 11675338) Mehaffey M.G. … Drachman J.G. (Blood 2001) 3 4 23
  5. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. (PMID: 12649131) Rainis L. … Izraeli S. (Blood 2003) 3 23 48

Products for GATA1 Gene

  • Addgene plasmids for GATA1

Sources for GATA1 Gene

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