KLF1
entrez
10661
canonical
uniprot
Q13351
canonical
ensembl
ENSG00000105610
resolver
ensp
ENSP00000264834
resolver
enst
ENST00000264834
resolver
genesymbol
KLF1
resolver
genesymbol_syn
EKLF
resolver
hgnc
HGNC:6345
resolver
uniprot
Q6PIJ5
resolver
uniprot
Q92899
resolver
uniprot_entry
KLF1_HUMAN
resolver
uniprot_sec
Q6PIJ5
resolver
uniprot_sec
Q92899
resolver
amino_acid_sequence
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL
uniprot
proteins
disease_involvement
DISEASE: Anemia, congenital dyserythropoietic, 4A (CDAN4A) [MIM:613673]: An autosomal dominant 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 also have increased levels of fetal hemoglobin. {ECO:0000269|PubMed:21055716, ECO:0000269|PubMed:23522491, ECO:0000269|PubMed:29200155, ECO:0000269|PubMed:29300242, ECO:0000269|PubMed:31126231, ECO:0000269|PubMed:31818881}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Anemia, congenital dyserythropoietic, 4B (CDAN4B) [MIM:620969]: An autosomal recessive hematologic disorder characterized by neonatal jaundice, hyperbilirubinemia, ineffective erythropoiesis in the bone marrow, and severe congenital hemolytic anemia. Fetal and embryonic hemoglobin are increased and persistent. {ECO:0000269|PubMed:24443441, ECO:0000269|PubMed:25585695, ECO:0000269|PubMed:28361594}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:21055716). When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation. {ECO:0000250|UniProtKB:P46099, ECO:0000269|PubMed:21055716, ECO:0000269|PubMed:25585695}.
uniprot
proteins
mass_dalton
38221
uniprot
proteins
post_translational_modification
PTM: Acetylated; can be acetylated on both Lys-274 and Lys-288. Acetylation on Lys-274 (by CBP) appears to be the major site affecting EKLF transactivation activity (By similarity). {ECO:0000250}.; PTM: Sumoylated; sumoylation, promoted by PIAS1, leads to repression of megakaryocyte differentiation. Also promotes the interaction with the CDH4 subunit of the NuRD repression complex (By similarity). {ECO:0000250}.; PTM: Phosphorylated primarily on serine residues in the transactivation domain. Phosphorylation on Thr-23 is critical for the transactivation activity (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
Krueppel C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18487511
uniprot
proteins
pubmed
20676099
uniprot
proteins
pubmed
21055716
uniprot
proteins
pubmed
21670263
uniprot
proteins
pubmed
23125034
uniprot
proteins
pubmed
23522491
uniprot
proteins
pubmed
24443441
uniprot
proteins
pubmed
24829204
uniprot
proteins
pubmed
25585695
uniprot
proteins
pubmed
25690802
uniprot
proteins
pubmed
28361594
uniprot
proteins
pubmed
29200155
uniprot
proteins
pubmed
29300242
uniprot
proteins
pubmed
31126231
uniprot
proteins
pubmed
31375868
uniprot
proteins
pubmed
31818881
uniprot
proteins
pubmed
8924208
uniprot
proteins
pubmed
9119377
uniprot
proteins
pubmed
9707565
uniprot
proteins
sequence_length
362
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21055716, ECO:0000269|PubMed:25585695}. Note=Colocalizes with SUMO1 in nuclear speckles. {ECO:0000250}.
uniprot
proteins