GeneID: 17


Common Name: KLF1 Type: Gene
Chromosome: 19 (NC_000019.10) Locus: NG_013087.1 (KLF1)
HUGO Symbol: KLF1 Full Name: Kruppel-Like Factor 1
Exons: 3 Introns: 2

The encoded protein is a transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. KLF1 contains 3 zinc fingers homologous to those found in the Kruppel family of transcription factors. It is a dual regulator of fetal-to-adult globin switching; it binds to a CCACACCCT sequence found in the beta-globin gene promoter, thus activating adult globin gene expression, and also to the BCL11A gene promoter, thus activating BCL11A transcription which in turn mediates repression of fetal globin genes. This dual activity ensures that, in most adults, fetal haemoglobin levels are low. In addition, KLF1 interacts with CBP/p300 and BRG1, which is a component of the chromatin remodeling complex SWI/SNF. Moreover, KLF1 is able to activate CD44 and AQP1 promoters, and heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype.

Synonyms: EKLF , erythroid Kruppel-like factor


Sequence Viewer

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Publications / Origin

  1. Bieker JJ, Isolation, genomic structure, and expression of human erythroid Krüppel-like factor (EKLF)., DNA Cell Biol. , 15(5), 347-52, 1996 PubMed
  2. Singleton BK, Burton NM, Green C, Brady RL, Anstee DJ, Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype., Blood , 112(5), 2081-8, 2008 PubMed
  3. Borg J, Papadopoulos P, Georgitsi M, Gutiérrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgür Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S, Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin., Nat. Genet. , 42(9), 801-5, 2010 PubMed
  4. Iarovaia OV, Kovina AP, Petrova NV, Razin SV, Ioudinkova ES, Vassetzky YS, Ulianov SV, Genetic and Epigenetic Mechanisms of β-Globin Gene Switching., Biochemistry (Mosc), 83(4), 381-392, 2018 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2021-02-03 11:06:36 (Show full history)

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