ID:GATA1_HUMAN DESCRIPTION: RecName: Full=Erythroid transcription factor; AltName: Full=Eryf1; AltName: Full=GATA-binding factor 1; Short=GATA-1; Short=GF-1; AltName: Full=NF-E1 DNA-binding protein; FUNCTION: 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 cells. SUBUNIT: 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. INTERACTION: P08107:HSPA1B; NbExp=5; IntAct=EBI-3909284, EBI-629985; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Erythrocytes. 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). PTM: 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). PTM: 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). PTM: 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. DISEASE: 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. DISEASE: Defects in GATA1 are the cause of X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]; also knwon as thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis. XLTT 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 hemoglobin chain synthesis resembling that of beta-thalassemia minor. DISEASE: Defects in GATA1 are the cause of anemia without thrombocytopenia X-linked (XLAWT) [MIM:300835]. XLAWT is 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. SIMILARITY: Contains 2 GATA-type zinc fingers. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GATA1ID40689chXp11.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATA1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15976
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000976 transcription regulatory region sequence-specific DNA binding GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001047 core promoter binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001085 RNA polymerase II transcription factor binding GO:0001158 enhancer sequence-specific DNA binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0002039 p53 binding GO:0003677 DNA binding GO:0003682 chromatin binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008270 zinc ion binding GO:0008301 DNA binding, bending GO:0031490 chromatin DNA binding GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding GO:0070742 C2H2 zinc finger domain binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001701 in utero embryonic development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007267 cell-cell signaling GO:0007596 blood coagulation GO:0008285 negative regulation of cell proliferation GO:0008584 male gonad development GO:0010559 regulation of glycoprotein biosynthetic process GO:0010724 regulation of definitive erythrocyte differentiation GO:0010725 regulation of primitive erythrocyte differentiation GO:0030099 myeloid cell differentiation GO:0030218 erythrocyte differentiation GO:0030219 megakaryocyte differentiation GO:0030220 platelet formation GO:0030221 basophil differentiation GO:0030222 eosinophil differentiation GO:0030502 negative regulation of bone mineralization GO:0033690 positive regulation of osteoblast proliferation GO:0035162 embryonic hemopoiesis GO:0035854 eosinophil fate commitment GO:0043066 negative regulation of apoptotic process GO:0045648 positive regulation of erythrocyte differentiation GO:0045652 regulation of megakaryocyte differentiation GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048468 cell development GO:0048821 erythrocyte development GO:0048873 homeostasis of number of cells within a tissue GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation GO:0070527 platelet aggregation GO:0071733 transcriptional activation by promoter-enhancer looping GO:0097028 dendritic cell differentiation GO:0097067 cellular response to thyroid hormone stimulus GO:1902036 regulation of hematopoietic stem cell differentiation GO:2000678 negative regulation of transcription regulatory region DNA binding GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
X17254 - Human mRNA for the transcription factor Eryf1. BC009797 - Homo sapiens GATA binding protein 1 (globin transcription factor 1), mRNA (cDNA clone MGC:13628 IMAGE:4048082), complete cds. LF385300 - JP 2014500723-A/192803: Polycomb-Associated Non-Coding RNAs. JD401873 - Sequence 382897 from Patent EP1572962. M30601 - Human erythroid DNA-binding protein (GF-1) mRNA, complete cds. AB463674 - Synthetic construct DNA, clone: pF1KB7694, Homo sapiens GATA1 gene for GATA binding protein 1, without stop codon, in Flexi system. CU679499 - Synthetic construct Homo sapiens gateway clone IMAGE:100018129 5' read GATA1 mRNA. KJ901445 - Synthetic construct Homo sapiens clone ccsbBroadEn_10839 GATA1 gene, encodes complete protein. KR710328 - Synthetic construct Homo sapiens clone CCSBHm_00011497 GATA1 (GATA1) mRNA, encodes complete protein. KR710329 - Synthetic construct Homo sapiens clone CCSBHm_00011498 GATA1 (GATA1) mRNA, encodes complete protein. KR710330 - Synthetic construct Homo sapiens clone CCSBHm_00011500 GATA1 (GATA1) mRNA, encodes complete protein. KR710331 - Synthetic construct Homo sapiens clone CCSBHm_00011502 GATA1 (GATA1) mRNA, encodes complete protein. LF379134 - JP 2014500723-A/186637: Polycomb-Associated Non-Coding RNAs. JD098069 - Sequence 79093 from Patent EP1572962. JD187948 - Sequence 168972 from Patent EP1572962. JD355577 - Sequence 336601 from Patent EP1572962. JD521602 - Sequence 502626 from Patent EP1572962. MA620877 - JP 2018138019-A/192803: Polycomb-Associated Non-Coding RNAs. MA614711 - JP 2018138019-A/186637: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_ahspPathway - Hemoglobin's Chaperone
Reactome (by CSHL, EBI, and GO)
Protein P15976 (Reactome details) participates in the following event(s):
R-HSA-8935740 RUNX1 and GATA1 bind the promoter of the ITGA2B gene R-HSA-8936616 RUNX1 and GATA1 bind the promoter of the GP1BA gene R-HSA-8936979 RUNX1 and GATA1 bind the promoter of the THBS1 gene R-HSA-8937037 RUNX1 and GATA1 bind the promoter of the MIR27A gene R-HSA-996755 ZFPM proteins bind GATA proteins R-HSA-8956568 RUNX1 binds the core TAL1 complex R-HSA-8936481 Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter R-HSA-8936621 Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter R-HSA-8937016 Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter R-HSA-8937050 Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function R-HSA-983231 Factors involved in megakaryocyte development and platelet production R-HSA-8878171 Transcriptional regulation by RUNX1 R-HSA-109582 Hemostasis R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
