Entity Details

Primary name KLF1
Entity type gene
Source Source Link

Details

PrimaryID10661
RefseqGeneNG_013087
SymbolKLF1
NameKruppel like factor 1
Chromosome19
Location19p13.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-09-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKLF1_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0000987 cis-regulatory region sequence-specific DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0030218 erythrocyte differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0060135 maternal process involved in female pregnancy
GO:1901653 cellular response to peptide

Diseases

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Disease IDSourceNameDescription
613673 OMIMAnemia, congenital dyserythropoietic, 4 (CDAN4)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. The disease is caused by variants affecting the gene represented in this entry.