AlphaFold predicted structure
KLF1 · Q13351
Mean pLDDT
57.0/ 100
Low
362 residues
Confidence breakdown
- Very high(≥ 90)1%
- Confident(70–90)25%
- Low(50–70)24%
- Very low(< 50)49%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
KLF1
Chr 19p13.13KLF transcription factor 1
- Aliases:
- EKLF
- MANE:
- ENST00000264834.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cytopenia - NOT Fanconi anaemia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalCytopenias and congenital anaemias
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal hydrops
BOTH monoallelic and biallelic, autosomal or pseudoautosomalRare anaemia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
Congenital dyserythropoietic anemia type IV
0.76congenital dyserythropoietic anemia type 4
0.76Hereditary persistence of fetal hemoglobin - beta-thalassemia
0.56hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
0.56anemia, congenital dyserythropoietic, type IVb
0.53hydrops fetalis
0.47hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
0.39congenital dyserythropoietic anemia
0.37neurodegenerative disease
0.23acute myeloid leukemia
0.20
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Krueppel-like factor 1
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 (PubMed:21055716). When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation
Diseases associated with KLF1
Curated MONDO disease pages that list KLF1 among their top associated genes.