loading...| Preferred Name |
Erythroid Transcription Factor |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17493 |
| code |
C17493 |
| DEFINITION |
Erythroid transcription factor (413 aa, ~43 kDa) is encoded by the human GATA1 gene. This protein is involved in transcription and erythropoiesis. |
| DesignNote |
Encoded by human GATA1 Gene (GATA Family), 413-aa 42.8-kD tissue-specific transcriptional activator GATA-1, a general switch factor for erythroid/megakaryocyte development, contains a conserved central domain of 2 GATA/C4 zinc fingers that recognize the WGATAR motif. The fingers cooperate in specific binding of the consensus DNA sequence (A/T)GATA(A/G) in erythroid genes. The N-finger interacts with zinc finger FOG1 protein, also essential for erythroid/megakaryocyte development. V205M abrogates GATA1 N-finger interaction with FOG. Regulatory feedback by death-receptor ligands results in caspase-mediated GATA1 degradation and impaired erythroblast development. Arg216gly substitution in the GATA1 N-finger causes X-linked thrombocytopenia; reduces GATA1/FOG1 affinity for palindromic GATA sites. (LocusLink, Swiss-Prot, OMIM) Erythroid transcription factor 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. (UniProt) |
| FULL_SYN |
NF-E1 DNA-Binding Protein GATA1 Globin Transcription Factor 1 ERYF1 NFE1 GF-1 GATA Binding Protein 1 GATA-1 GF1 Transcription Factor GATA1 Erythrold Transcription Factor 1 |
| label |
Erythroid Transcription Factor |
| Legacy_Concept_Name |
GATA-1 |
| OMIM_Number |
305371 |
| Preferred_Name |
Erythroid Transcription Factor |
| prefixIRI |
C17493 |
| prefLabel |
Erythroid Transcription Factor |
| Semantic_Type |
Biologically Active Substance Amino Acid, Peptide, or Protein |
| Swiss_Prot |
P15976 |
| UMLS_CUI |
C1530719 |
| subClassOf |