InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KLF1

Summary

InnateDB Protein

IDBP-31254.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KLF1

Protein Name

Kruppel-like factor 1 (erythroid)

Synonyms

CDAN4; EKLF; HBFQTL6; INLU;

Species

Homo sapiens

Ensembl Protein

ENSP00000264834

InnateDB Gene

IDBG-31252 (KLF1)

Protein Structure

UniProt Annotation

Function

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 (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:21055716}. Note=Colocalizes with SUMO1 in nuclear speckles. {ECO:0000250}.

Disease Associations

Anemia, congenital dyserythropoietic, 4 (CDAN4) [MIM:613673]: 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. {ECO:0000269PubMed:21055716}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expression restricted to adult bone marrow and fetal liver. Not expressed in myeloid nor lymphoid cell lines. {ECO:0000269PubMed:8924208, ECO:0000269PubMed:9119377}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.

Experimentally validated
Total	25 [view]
Protein-Protein	24 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000987	core promoter proximal region sequence-specific DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0044212	transcription regulatory region DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0001701	in utero embryonic development
GO:0001889	liver development
GO:0006338	chromatin remodeling
GO:0006351	transcription, DNA-templated
GO:0030218	erythrocyte differentiation
GO:0035162	embryonic hemopoiesis
GO:0043249	erythrocyte maturation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0048821	erythrocyte development
GO:1901653	cellular response to peptide