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Aliases for GATA1 Gene

Aliases for GATA1 Gene

  • GATA Binding Protein 1 2 3 5
  • Globin Transcription Factor 1 2 3
  • Nuclear Factor, Erythroid 1 2 3
  • NF-E1 DNA-Binding Protein 3 4
  • GATA-Binding Factor 1 3 4
  • GATA-1 3 4
  • ERYF1 3 4
  • GF-1 3 4
  • GF1 3 4
  • GATA-Binding Protein 1 (Globin Transcription Factor 1) 2
  • Erythroid Transcription Factor 1 3
  • Erythroid Transcription Factor 3
  • Transcription Factor GATA1 3
  • NF-E1 3
  • XLANP 3
  • XLTDA 3
  • NFE1 3
  • XLTT 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) is a Protein Coding gene. Diseases associated with GATA1 include Thrombocytopenia With Beta-Thalassemia, X-Linked and Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia. Among its related pathways are DREAM Repression and Dynorphin Expression and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is GATA2.

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. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781).

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

Enhancers for GATA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF048789 0.8 FANTOM5 ENCODE 17.4 +3.2 3211 0.5 CTCF STAT1 ZNF654 ZNF740 NFXL1 REST ZBTB7A RAD21 POLR2A NCOR1 GATA1 ENSG00000204620 SLC38A5 MAGIX SSX3 HDAC6
GH0XF048785 1.3 FANTOM5 Ensembl ENCODE 8.7 +0.4 424 4.0 HDGF TBP ATF1 PKNOX1 CBX3 NFRKB ZBTB40 ZNF366 GATA2 CREM WAS GATA1 PQBP1 ENSG00000204620 HDAC6
GH0XF049154 1.6 FANTOM5 Ensembl ENCODE 1.6 +369.3 369327 2.6 HDGF ATF1 PKNOX1 CREB3L1 GLIS2 ZNF143 KLF7 FOS KLF13 ZNF263 GPKOW HDAC6 MAGIX GATA1 LOC105373195 RN7SL262P
GH0XF048782 1 ENCODE 0.8 -3.4 -3420 1.2 ATF1 CBX5 ELK1 GATA2 KDM4B NCOA1 MBD2 MEF2D SMARCA4 MYNN ZNF182 OTUD5 WAS ZNF630 GATA1 GC0XM048777 RNU6-29P
GH0XF048793 1.2 Ensembl ENCODE 0.4 +8.5 8489 2.6 HDAC1 ATF1 CBX3 FOS BCLAF1 CREM SMARCA5 SMARCC1 CEBPB USF2 GLOD5 PQBP1 TIMM17B WAS GATA1 HDAC6
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GATA1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for GATA1 Gene

Chromosome:
X
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

Genes around GATA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with MED1, CCAR1 and CALCOCO1.

    Alternative splice isoforms for GATA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATA1 Gene

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GATA1 (GATA1)
  • Abcam antibodies for GATA1
  • Cloud-Clone Corp. Antibodies for GATA1

No data available for DME Specific Peptides for GATA1 Gene

Domains & Families for GATA1 Gene

Gene Families for GATA1 Gene

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 :
  • 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).
  • Contains 2 GATA-type zinc fingers.
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. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781).

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 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GATA1: view
genes like me logo Genes that share phenotypes with GATA1: view

Human Phenotype Ontology for GATA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GATA1 Gene

MGI Knock Outs for GATA1:

Animal Model Products

miRNA for GATA1 Gene

miRTarBase miRNAs that target GATA1

Transcription Factor Targets for GATA1 Gene

Selected GeneGlobe predicted Target genes for GATA1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GATA1

Flow Cytometry Products

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
cytosol 2
cytoskeleton 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GATA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 2467208
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 & Interactions for GATA1 Gene

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

SIGNOR curated interactions for GATA1 Gene

Inactivates:
Is activated by:

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IDA 2467208
genes like me logo Genes that share ontologies with GATA1: view

Drugs & Compounds for GATA1 Gene

(19) Drugs for GATA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(13) Additional Compounds for GATA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GATA1: view

Transcripts for GATA1 Gene

mRNA/cDNA for GATA1 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GATA1

Flow Cytometry Products

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 (x41.0).

Protein differential expression in normal tissues from HIPED for GATA1 Gene

This gene is overexpressed in Fetal Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GATA1 Gene



Protein tissue co-expression partners for GATA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GATA1 Gene:

GATA1

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 expression patterns with GATA1: view

Primer Products

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 34
  • 99.05 (n)
dog
(Canis familiaris)
Mammalia GATA1 34
  • 89.65 (n)
cow
(Bos Taurus)
Mammalia GATA1 34 35
  • 88.32 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911167 34
  • 84.83 (n)
mouse
(Mus musculus)
Mammalia Gata1 34 16 35
  • 83.29 (n)
oppossum
(Monodelphis domestica)
Mammalia GATA1 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATA1 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATA1 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497467 34
  • 58.42 (n)
zebrafish
(Danio rerio)
Actinopterygii gata1a 34 35
  • 60.85 (n)
gata1b 35
  • 40 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta grn 36 35
  • 80 (a)
pnr 36
  • 77 (a)
worm
(Caenorhabditis elegans)
Secernentea elt-1 36 35
  • 68 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL80 35
  • 19 (a)
ManyToMany
GAT1 35
  • 13 (a)
ManyToMany
GZF3 35
  • 11 (a)
ManyToMany
GLN3 35
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10440 35
  • 19 (a)
ManyToMany
Species where no ortholog for GATA1 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs104894808 X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367], Pathogenic 48,792,376(+) GGAGG(G/T)ACAGG reference, missense
rs104894809 Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050], Pathogenic 48,792,371(+) GTGGC(A/G)GAGGG reference, missense
rs104894815 X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367], Pathogenic 48,792,337(+) AGTGT(A/G)TGAAC reference, missense
rs104894816 X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367], Pathogenic 48,792,377(+) GAGGG(A/G)CAGGA reference, missense
rs137852312 X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]

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

Variant ID Type Subtype PubMed ID
esv28934 CNV gain 19812545
esv32909 CNV gain+loss 17666407
esv3576862 CNV gain 25503493
nsv528292 CNV gain 19592680
nsv6893 CNV insertion 18451855

Variation tolerance for GATA1 Gene

Residual Variation Intolerance Score: 75.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GATA1 Gene

Human Gene Mutation Database (HGMD)
GATA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATA1

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

Disorders for GATA1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for GATA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombocytopenia with beta-thalassemia, x-linked
  • xltt
thrombocytopenia, x-linked, with or without dyserythropoietic anemia
  • thrombocytopenia with congenital dyserythropoietic anemia
anemia, x-linked, with/without neutropenia and/or platelet abnormalities
  • anemia, x-linked, with or without neutropenia and/or platelet abnormalities
thrombocytopenia with or without dyserythropoietic anemia
  • thrombocytopenia, x-linked, with or without dyserythropoietic anemia
leukemia, megakaryoblastic, with or without down syndrome, somatic
  • down syndrome trisomy 21, included
- elite association - COSMIC cancer census association via MalaCards
Search GATA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GATA1_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for GATA1

Genetic Association Database (GAD)
GATA1
Human Genome Epidemiology (HuGE) Navigator
GATA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GATA1
genes like me logo Genes that share disorders with GATA1: view

No data available for Genatlas for GATA1 Gene

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 22 46 64
  2. GATA-1 and Gfi-1B interplay to regulate Bcl-xL transcription. (PMID: 17420275) Kuo Y.-Y. … Chang Z.-F. (Mol. Cell. Biol. 2007) 3 4 22 64
  3. Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. (PMID: 17576817) Pine S.R. … Sandoval C. (Blood 2007) 3 22 46 64
  4. Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. (PMID: 12816863) Xu G. … Ito E. (Blood 2003) 3 22 46 64
  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 22 46 64

Products for GATA1 Gene

Sources for GATA1 Gene

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