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GATA binding protein 1 (globin transcription factor 1) (HGNC Symbol)
Entrez gene summary
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]
Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] 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:0001701 [in utero embryonic development] 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:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007267 [cell-cell signaling] GO:0007507 [heart development] GO:0007596 [blood coagulation] GO:0008270 [zinc ion binding] GO:0008285 [negative regulation of cell proliferation] GO:0008301 [DNA binding, bending] GO:0008584 [male gonad development] GO:0009887 [organ morphogenesis] GO:0009888 [tissue development] GO:0010559 [regulation of glycoprotein biosynthetic process] GO:0010724 [regulation of definitive erythrocyte differentiation] GO:0017053 [transcriptional repressor complex] 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:0031490 [chromatin DNA binding] GO:0033690 [positive regulation of osteoblast proliferation] GO:0035162 [embryonic hemopoiesis] GO:0035854 [eosinophil fate commitment] GO:0043066 [negative regulation of apoptotic process] GO:0043565 [sequence-specific DNA binding] GO:0045648 [positive regulation of erythrocyte 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:0048565 [digestive tract development] GO:0048821 [erythrocyte development] GO:0050731 [positive regulation of peptidyl-tyrosine phosphorylation] GO:0070527 [platelet aggregation] GO:0070742 [C2H2 zinc finger domain binding] GO:0071733 [transcriptional activation by promoter-enhancer looping] GO:0097028 [dendritic cell differentiation] GO:0097067 [cellular response to thyroid hormone stimulus] GO:2000678 [negative regulation of transcription regulatory region DNA binding] GO:2001240 [negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014)
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GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0043565 [sequence-specific DNA binding]