GeneID: 17



Names

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

Description:
The encoded protein is a transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. 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 the DNA sequence CCACACCCT found 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 haemoglobin levels are low. It is able to activate CD44 and AQP1 promoters. Genetic variations in KLF1 underlie the fetal haemoglobin quantitative trait locus 6 and the blood group-Lutheran inhibitor (In(Lu)) phenotype.

Synonyms: EKLF , erythroid Kruppel-like factor

Comments:
N/A

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
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 12:02:40 (Show full history)


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