Contents

Search

GATA binding factor-1; erythroid transcription factor GATA-1 (ERYF1, GF-1, NF-E1, GATA1)

Function: - transcriptional activator - probably serves as a general switch factor for erythroid development - regulate genes that define the erythroid phenotype - supports viability of erythroid precursors by preventing apoptosis [2] - binds to DNA sites with consensus sequence [AT]GATA[AG] 'GATA' sequences within regulatory regions of globin genes & of other genes expressed in erythroid cells - N-terminal Zn+2 finger interacts with ZFPM1/FOG1 interacts with GFI1B Structure: - the 2 fingers are functionally distinct & cooperate to achieve specific, stable DNA binding - the 1st finger is necessary only for full specificity & stability of binding, - the 2nd one is required for binding (putative) - contains 2 GATA-type Zn+2 fingers Compartment: nucleus Alternative splicing: named isoforms=2 Expression: erythrocytes Pathology: - defects in GATA1 are the cause of: a) X-linked dyserythropoietic anemia & thrombocytopenia b) X-linked thrombocytopenia with beta-thalassemia Laboratory: - GATA1 gene exon 2 mutation

General

GATA binding factor (transcription factor GATA)

Properties

SIZE: entity length = 413 aa MW = 43 kD COMPARTMENT: cell nucleus MOTIF: binding site SITE: 203-203 FOR-BINDING-OF: ZFPM1 Zn finger GATA-type SITE: 204-228 EFFECTOR-BOUND: Zn+2 MOTIF: binding site SITE: 205-205 FOR-BINDING-OF: ZFPM1 binding site SITE: 208-208 FOR-BINDING-OF: ZFPM1 binding site SITE: 222-222 FOR-BINDING-OF: ZFPM1 Zn finger GATA-type SITE: 258-282 EFFECTOR-BOUND: Zn+2

Database Correlations

OMIM 305371 MORBIDMAP 305371 UniProt P15976 Entrez Gene 2623

References

  1. Andrews NC, Erdjument-Bromage H, Davidson MB, Tempst P, Orkin SH. Erythroid transcription factor NF-E2 is a haematopoietic- specific basic-leucine zipper protein. Nature. 1993 Apr 22;362(6422):722-8. PMID: 8469283
  2. Weiss MJ, Orkin SH. Transcription factor GATA-1 permits survival and maturation of erythroid precursors by preventing apoptosis. Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9623-7. PMID: 7568185
  3. Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/GATA1ID40689chXp11.html
  4. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA1
  5. UniProt :accession P15976