Property Summary

NCBI Gene PubMed Count 68
Grant Count 127
R01 Count 76
Funding $17,760,640.08
PubMed Score 183.40
PubTator Score 125.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -6.702 0.000
group 3 medulloblastoma 2.300 0.000
psoriasis 1.100 0.003

Synonym

Accession Q13351 Q6PIJ5 Q92899
Symbols EKLF

Gene

PDB

2MBH   2L2I   2N23  

Gene RIF (56)

PMID Text
26903544 a broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, which were previously considered to be extremely rare causes of human genetic disease [review]
26840243 results suggest that KLF1 directly regulates the beta-globin gene, but probably has less direct impact on expression of the gamma-globin gene in fetal erythroblasts
26303528 The study identified the DEK oncoprotein as a critical factor that interacts with an essential upstream enhancer element of the EKLF promoter and exerts a positive effect on EKLF levels.
26159733 erythrocyte lineage enforces exclusivity through upregulation of EKLF and its lineage-specific cytokine receptor (EpoR) while inhibiting both FLI-1 and the receptor TpoR (also known as MPL) for the opposing megakaryocyte lineage
26053062 a successful induction of gamma-globin includes a reduction in BCL11A, KLF1 and TAL1 expression.
25976964 Studies indicate that Kruppel-like factor 1 (KLF1) mutations have been associated with severe hematologic disorders.
25724378 Described is a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1-null human.
25694242 KLF1 mutations are associated with increased hemoglobin F and A2 expression.
25690802 Here we describe a Japanese patient with mild beta-thalassemia with an intact beta-globin gene but a new missense mutation of c.947G > A or p.C316Y in the KLF1 gene which is strongly associated with the expression of the beta-globin gene.
25585695 A KLF1-targeted promoter-reporter assay showed that the two mutations reduce the expression of the HBB, BCL11A, and CD44 genes involved in erythropoiesis.
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AA Sequence

MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGAD      1 - 70
ATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPAL     71 - 140
RARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAP    141 - 210
QYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHT    211 - 280
CAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSR    281 - 350
SDHLALHMKRHL                                                              351 - 362
//

Text Mined References (70)

PMID Year Title
26903544 2016 Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.
26840243 2016 Krüppel-Like Transcription Factor KLF1 Is Required for Optimal ?- and ?-Globin Expression in Human Fetal Erythroblasts.
26303528 2015 The DEK Oncoprotein Is a Critical Component of the EKLF/KLF1 Enhancer in Erythroid Cells.
26159733 2015 Robust hematopoietic progenitor cell commitment in the presence of a conflicting cue.
26053062 2015 Variation in Gamma-Globin Expression before and after Induction with Hydroxyurea Associated with BCL11A, KLF1 and TAL1.
25976964 2015 Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.
25724378 2015 KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.
25694242 2015 Krüppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome.
25690802 2015 A new Krüppel-like factor 1 mutation (c.947G?>?A or p.C316Y) in humans causes ?-thalassemia minor.
25585695 2015 Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.
More...