GATA1 Gene
protein-coding GIFtS: 69
GC0XP048529
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GATA binding protein 1 (globin transcription factor 1) (Previous name: GATA-binding protein 1 (globin transcription factor 1) ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: GF1)
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Aliases & Descriptions for GATA1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
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| Aliases |
|---|
| ERYF1 1, 2, 3, 5 | | Eryf1 3 | | GATA-1 3 | | GF-1 2, 3 | | GF1 2, 3, 5 | | NFE1 1, 2, 5 | | OTTHUMP00000023259 2 | | XLTT 2, 5 |
| | | Descriptions |
|---|
| GATA binding protein 1 2 | | GATA binding protein 1 (globin transcription factor 1) 2 | | GATA-binding factor 1 3 | | GATA-binding protein 1 (globin transcription factor 1) 1 | | NF-E1 DNA-binding protein 2, 3 | | erythroid transcription factor 1 2 | | globin transcription factor 1 2 | | transcription factor GATA1 2 |
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| | Search outside databases for aliases for GATA1 genePrevious GC identifers: GC0XP047447 GC0XP046905 GC0XP047690 GC0XP048401 |
Summaries for GATA1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for GATA1: 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] UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976Function: Transcriptional activator which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence [AT]GATA[AG] within regulatory regions of globin genes and of other genes expressed in erythroid cellsGene Wiki entry for GATA1 |
Genomic Location for GATA1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the GATA1 gene 
Entrez Gene cytogenetic band: Xp11.23 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.23GATA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP048529:
(about GC identifiers)
Start:
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48,529,906 bp from pter |
End:
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48,537,662 bp from pter |
Size:
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7,757 bases |
Orientation:
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plus strand |
RefSeq DNA sequence:- NC_000023.9 NT_079573.3
| Proteins for GATA1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976 (See
protein sequence)Recommended Name: Erythroid transcription factor Size: 413 amino acids; 42751 Da
Subunit: 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 (By similarity)
Subcellular location: Nucleus
Secondary accessions: Q96GB8Alternative splicing: 2 isoforms: P15976-1 P15976-2 Post-translational modifications:
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)1
Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation by SUMO1 has no effect on transcriptional activity (By similarity)1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_002040.1
ENSEMBL proteins: ENSP00000365858 ENSP00000365853
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for GATA1: Assays for GATA1: | Protein
Domains/ Families for GATA1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P15976
ProtoNet protein and cluster: P15976 1 Blocks protein family: IPB000679 Zn-finger
UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976Domain: 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 | Gene Function for GATA1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002049
Applied Biosystems Silencer® siRNAs for GATA1
Sigma-Aldrich siRNA for GATA1  Sigma-Aldrich shRNA for GATA1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002049                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002049                                  untagged cDNA clone in CMV expression vector: NM_002049 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002049
UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976Function: Transcriptional activator which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence [AT]GATA[AG] within regulatory regions of globin genes and of other genes expressed in erythroid cellsGenatlas biochemistry entry for GATA1: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 cleavage13 MGI mutant phenotypes (inferred from 14 alleles ) (MGI details for Gata1):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for GATA1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for GATA1 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for GATA1 
5/123 Interacting proteins for GATA1 (ENSP000003658583 P159762) via UniProtKB, MINT, and/or STRING (see all 123
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
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Drugs & Compounds for GATA1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
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Browse Tocris compounds for GATA1 10/14 Novoseek chemical compound relationships for GATA1 gene (see all 14
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| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| aclacinomycin |
78.87 |
11 |
8639908 (2), 8853898 (2), 9389364 (2), 8445949 (1) (see all 6) |
| porphobilinogen |
67.29 |
7 |
10207080 (1), 2266112 (1), 8445949 (1), 14757314 (1) (see all 7) |
| zinc |
58.68 |
50 |
7739529 (4), 11809723 (2), 12724402 (2), 15659837 (2) (see all 32) |
| uroporphyrinogen-iii |
36.67 |
1 |
11254675 (1) |
| 5-aminolevulinic acid |
26.96 |
3 |
10207080 (1), 10828046 (1), 11675336 (1) |
| oligonucleotide |
17.03 |
7 |
1515647 (2), 9028940 (1), 10402242 (1), 1370462 (1) |
| 12-o-tetradecanoylphorbol 13-acetate |
15.48 |
4 |
8562972 (2), 14623254 (1) |
| cytidine |
12.59 |
7 |
15687366 (2), 14744791 (1), 19260099 (1) |
| progesterone |
4.90 |
4 |
12490288 (4) |
| thromboxane |
0.00 |
1 |
12694255 (1) |
About this table
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Transcripts for GATA1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002049
Sigma-Aldrich siRNA for GATA1  Sigma-Aldrich shRNA for GATA1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_002049 REFSEQ mRNAs for GATA1 gene: NM_002049.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002049               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002049                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002049                                  untagged cDNA clone in CMV expression vector: NM_002049  Additional cDNA sequence: BC009797.1 M30601.1 X17254.1 3 DOTS entries: DT.109910 DT.121306319 DT.95263420 18 AceView cDNA sequences:BG492904 BX644853 BI836762 BX090462 BX644559 BF212679 BF183877 NM_002049 X17254 BC009797 BI769078 M30601 BF210926 BF211536 R06500 T80715 N73047 BQ182134
highest scoring ESTs for GATA1:X17254 AI057349 AI076656 AI355322 BQ182134 M30601 N53684 R06446 BC009797 BF211536 Unigene Cluster for GATA1: GATA binding protein 1 (globin transcription factor 1) Hs.765 [show with all ESTs]Unigene Representative Sequence: NM_002049
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000376670
ENST00000376665
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Expression for GATA1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| GATA1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GATA1
1 / 2 / 3 4 probe-sets matching GATA1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GCCTCCAGAG
SOURCE GeneReport for Unigene cluster: Hs.765
Expression variation in blood from EXPOLDB for GATA1 UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976Tissue specificity: Erythrocytes |
Orthologs for GATA1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
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Orthologs for GATA1 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for GATA1
ENSEMBL Gene Tree for GATA1 | Paralogs for GATA1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for GATA1 gene
- GATA42 GATA32 GATA22
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SNPs/Variants for GATA1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for GATA1 (up to first 250kb)
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Disorders & Mutations for GATA1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
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OMIM: 305371 UniProtKB/Swiss-Prot: GATA1_HUMAN, P15976
Defects in GATA1 are the cause of X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]. XDAT is a 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 Defects in GATA1 are the cause of X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]; also called thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis. The disease consists of an unusual form of thrombocytopenia 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 minor10/41 Novoseek disease relationships for GATA1 gene (see all 41
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| megakaryoblastic leukemia acute |
92.64 |
33 |
16628190 (2), 19119459 (2), 14636651 (2), 12586620 (1) (see all 24) |
| dyserythropoietic anemia |
83.36 |
7 |
11809723 (1), 16103636 (1), 16158817 (1), 17538848 (1) (see all 5) |
| erythroleukemia |
81.32 |
19 |
7722440 (2), 9808054 (2), 1569944 (1), 8443382 (1) (see all 16) |
| down syndrome |
75.63 |
93 |
15390279 (3), 12747884 (3), 12816863 (3), 15686466 (3) (see all 54) |
| myeloproliferative disorders |
74.75 |
18 |
15686466 (2), 14636651 (2), 15390312 (1), 16628190 (1) (see all 15) |
| thrombocytopenia 1 |
72.05 |
9 |
14656885 (2), 11675338 (2), 16158817 (1), 12200364 (1) (see all 5) |
| leukemia |
64.16 |
67 |
12747884 (4), 7579412 (4), 15390279 (3), 8199039 (3) (see all 37) |
| leukemogenesis |
64.14 |
11 |
12560215 (2), 14512321 (1), 12832487 (1), 12816863 (1) (see all 7) |
| gray platelet syndrome |
62.72 |
1 |
17209061 (1) |
| acute leukemia |
58.05 |
19 |
14636651 (3), 8035609 (2), 7780155 (2), 10360378 (1) (see all 14) |
About this table
GeneTests: GATA1 GATA1-Related Cytopenia Human Gene Mutation Database: GATA1 Genetic Association Database: GATA1 Human Genome Epidemiology Navigator: GATA1 (6 documents)
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Medical News for GATA1(Possibly Related Articles in
Doctor's Guide)
About This Section
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Publications for GATA1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/526 PubMed articles for GATA1 gene (see all 526
):- 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. (PubMed id 11809723)1, 3, 4, 6 Freson K.... Van Geet C. (2002)
- Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. (PubMed id 12649131)1, 3, 6 Rainis L....Izraeli S. (2003)
- The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome. (PubMed id 2300555)1, 3, 4 Zon L.I....Orkin S.H. (1990)
- Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. (PubMed id 12816863)1, 3, 6 Xu G....Ito E. (2003)
- X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. (PubMed id 12200364)1, 3, 4 Yu C....Raskind W.H. (2002)
- GATA-1 and Gfi-1B interplay to regulate Bcl-xL transcription. (PubMed id 17420275)1, 3, 4 Kuo Y.-Y. and Chang Z.-F. (2007)
- X-linked thrombocytopenia caused by a novel mutation of GATA-1. (PubMed id 11675338)1, 3, 4 Mehaffey M.G.... Drachman J.G. (2001)
- Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. (PubMed id 11418466)1, 3, 4 Freson K.... Van Geet C. (2001)
- No mutations in the GATA-1 gene detected in patients with acquired essential thrombocythemia. (PubMed id 15136229)1, 3, 6 Gandini D....Gale R.E. (2004)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)3, 4 Ross M.T.... Bentley D.R. (2005)
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Search for GATA1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing GATA1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
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| Other Databases showing GATA1
(According to HUGE)
About This Section
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Specialized Databases showing GATA1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| About This Section
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| Services for GATA1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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 Products for GATA1:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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