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P15976 of Proteins GATA-type domain repeats
Uniprot ID:P15976
Protein name: Erythroid transcription factor
Gene : GATA1 ERYF1 GF1
Protein Family:
Squence Length : 413
Sequnce
>P15976 414 MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAALAYYRDAEAYRHSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQAVEDLDGKGSTSFLETLKTERLSPDLLTLGPALPSSLPVPNSAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRGTLPLPPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQNRPLIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCNACGLYYKLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVASGLTLGPPGTAHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMPPTTSTTVVAPLSS
GATA-type domains repeats
ZN_FING 204 228 GATA-type 1 ZN_FING 258 282 GATA-type 2
Domin repeated regions
204 - 228 CVNCGATATPLWRRDRTGHYLCNAC 258 - 282 CTNCQTTTTTLWRRNASGDPVCNAC
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)"
Mutation
137 137 K->R: Abolishes sumoylation 142 142 S->A: Loss of sumoylation 142 142 S->D: Increased sumoylation in vitro 204 204 C->R: Increase of dissociation rate from bound DNA
Disease
"DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"