KLF1 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. Defects in KLF1 are the cause of congenital dyserythropoietic anemia type 4 (CDA4). It is a blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin. Belongs to the krueppel C2H2-type zinc-finger protein family. Note: This description may include information from UniProtKB.
Protein type: C2H2-type zinc finger protein; DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 19p13.13
Cellular Component:  nuclear chromatin; nucleoplasm; nucleus
Molecular Function:  DNA-binding transcription factor activity, RNA polymerase II-specific; metal ion binding; protein binding; proximal promoter sequence-specific DNA binding; transcription regulatory region DNA binding
Biological Process:  cellular response to peptide; erythrocyte differentiation; maternal process involved in female pregnancy; positive regulation of transcription, DNA-templated; regulation of transcription, DNA-templated
Disease: Anemia, Congenital Dyserythropoietic, Type Iv; Blood Group--lutheran Inhibitor; Fetal Hemoglobin Quantitative Trait Locus 6
Reference #:  Q13351 (UniProtKB)
Alt. Names/Synonyms: EKLF; Erythroid krueppel-like transcription factor; erythroid Kruppel-like factor; erythroid-specific transcription factor EKLF; INLU; KLF1; Krueppel-like factor 1; Kruppel-like factor 1 (erythroid); monoclonal antibody A3D8
Gene Symbols: KLF1
Molecular weight: 38,221 Da
Basal Isoelectric point: 6.67  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene