Aliases for KLF1 Gene
External Ids for KLF1 Gene
Previous GeneCards Identifiers for KLF1 Gene
This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]
GeneCards Summary for KLF1 Gene
KLF1 (Kruppel Like Factor 1) is a Protein Coding gene. Diseases associated with KLF1 include Anemia, Congenital Dyserythropoietic, Type Iv and Fetal Hemoglobin Quantitative Trait Locus 6. Among its related pathways are Hematopoietic Stem Cell Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and proximal promoter sequence-specific DNA binding. An important paralog of this gene is KLF2.
UniProtKB/Swiss-Prot Summary for KLF1 Gene
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.