DISEASES

Disease-gene associations mined from literature

Literature associating KLF1 and Diamond-Blackfan anemia

KLF1 [ENSP00000264834]

Erythroid krueppel-like transcription factor; Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation; Kruppel like factors

Synonyms:  KLF1,  KLF1p,  hKLF1,  B9UZC3,  KLF1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM