Recombinant Human Krueppel-like factor 1(KLF1)

Code CSB-EP619760HUa6
Size US$2466
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Product Details

Purity Greater than 85% as determined by SDS-PAGE.
Target Names KLF1
Uniprot No. Q13351
Research Area Epigenetics and Nuclear Signaling
Alternative Names CDAN4; EKLF; EKLF PEN; Erythroid krueppel like transcription factor (EKLF) (Erythroid transcription factor); Erythroid krueppel-like transcription factor; Erythroid Kruppel like factor ; Erythroid specific transcription factor EKLF; HBFQTL6; Human erythroid-specific transcription factor EKLF mRNA complete cds ; INLU; Klf1; KLF1_HUMAN; Krueppel-like factor 1; Kruppel like factor 1 (erythroid)
Species Homo sapiens (Human)
Source E.coli
Expression Region 1-362aa
Target Protein Sequence MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 52.2 kDa
Protein Length Full Length
Tag Info N-terminal 6xHis-B2M-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

Target Data

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.
Gene References into Functions
  1. KLF1 promoted metastasis and invasion via the PI3K/Akt signaling pathway in cervical cancer cells. PMID: 30132534
  2. 3 new mutations were found KLF1*90A (p.Trp30Ter), KLF*911A (p.Thr304Lys), and KLF1*304C,318G (p. Ser102Pro, Tyr106Ter) in 2 unrelated individuals. 2 others had c.954dupG (p.Arg319Glufs*34), that is, KLF1*BGM06. A child with unexplained anemia had c.973G>A (p.Glu325Lys), associated with congenital dyserythropoietic anemia. The common c.304T>C was found in 2 of 7 samples and 60 of 100 blood donors. PMID: 29047116
  3. 4 individuals who were Lua and Lub negative were identified from 5420 unrelated blood donors. KLF1 allele with c.199delA and c.304T>C in Exon 2 was identified in one individual, which caused a frameshift at AA67 and formed a new premature stop codon at nucleotide position 708 p.(Gly68AlafsTer236). One KLF1 allele with c.304T>C and c.604G>A was found in another, which resulted which resulted in p.Ser102Pro and p.Gly202A. PMID: 29193102
  4. AsquareChinesesquarefamilysquarewithsquareKLF1squaremutationsquarecausingsquaremildsquarebeta-squarethalassemia PMID: 29393578
  5. Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation. PMID: 28342932
  6. Reduction of KLF1 expression in beta(0)-thalassemia/HbE erythroblasts can increase HbF levels. PMID: 29067594
  7. Alterations in high HbF levels may be associated with KLF1 gene mutations. PMID: 28886314
  8. KLF1 enhancer sequence is frequently hypermethylated in juvenile myelomonocytic leukemia. PMID: 28749240
  9. Findings suggest that the induction of an indel mutation in the Kruppel like factor 1 (KLF1) gene leading to a null allele. PMID: 27668420
  10. KLF1 is an important genetic factor associated with increased Hb F and in combination with other modifying factors could explain the phenotypic variation of Hb F expression in this common hemoglobinopathy. PMID: 27282573
  11. Activation of KLF1 at day 10 of the differentiation process when hematopoietic progenitor cells were present, enhanced erythroid commitment and differentiation. PMID: 28026072
  12. Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion PMID: 27701781
  13. NF-E2, TAL1 and KLF1, all activators play a primary role in HSs formation in the LCR PMID: 27026582
  14. Introduction of the British HPFH mutation into the fetal globin promoter in a human cell model causes elevated fetal globin expression. The British HPFH mutation creates a de novo binding site both in vitro and in vivo for the potent erythroid activator KLF1. PMID: 28659276
  15. A hypothesis on possible liaisons between mutations in the gene encoding EKLF and resistance to pathogens is presented. PMID: 27708211
  16. study reports a novel KLF1 mutation codon 211 A-->G (c.632 A>G) in a family with beta-hemoglobinopathy showing a considerable increase in the HbF level, thus supporting the role of KLF1 in hemoglobin switching PMID: 28369821
  17. seven new alleles in the KLF1 gene, which are presumed to act dominantly to silence LU expression, were identified PMID: 27043150
  18. The prevalence of the In(Lu) phenotype in the Japanese population was 0.02%, and we identified 13 known and 21 novel KLF1 alleles. The KLF1 mutations cause the reduced expression of the P1 antigen. PMID: 28194794
  19. A novel heterozygous mutation was identified in a highly conserved residue in the COOH-terminus of the Kruppel-like factor 1, R360H, that likely altered DNA-binding and impaired transactivation PMID: 27821015
  20. Our study highlighted two novel promoter KLF1 and 3'-region C/EBPalpha motifs in the phenylalanine hydroxylase (PAH) gene which decrease transcription in vitro and, thus, could be considered as PAH expression modifiers. PMID: 27447460
  21. 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] PMID: 26903544
  22. 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 PMID: 26840243
  23. A KLF1-targeted promoter-reporter assay showed that the two mutations reduce the expression of the HBB, BCL11A, and CD44 genes involved in erythropoiesis. PMID: 25585695
  24. 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 PMID: 26159733
  25. Studies indicate that Kruppel-like factor 1 (KLF1) mutations have been associated with severe hematologic disorders. PMID: 25976964
  26. a successful induction of gamma-globin includes a reduction in BCL11A, KLF1 and TAL1 expression. PMID: 26053062
  27. 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. PMID: 26303528
  28. 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. PMID: 25690802
  29. The patient with the p.F182L variant (KLF1: c.544T > C) had noticeably high Hb A2 levels (7.6%), consistent with the phenotypic effect of several previously characterized KLF1 mutations in the same exonic region. PMID: 25583416
  30. These results indicate that KLF1 plays a role in facilitating and/or stabilizing GATA-1 and TAL1 occupancy in the erythroid genes, contributing to the generation of active chromatin structure such as histone acetylation and chromatin looping PMID: 25528728
  31. SCF-mediated gamma-globin gene expression in adult human erythroid cells is associated with KLF1, BCL11A and SOX6 down-regulation. PMID: 25457384
  32. KLF1 mutations are associated with increased hemoglobin F and A2 expression. PMID: 25694242
  33. 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. PMID: 25724378
  34. Molecular defect in the alpha-globin and beta-globin genes, and in the KLF1 gene were found in the borderline hemoglobin A2 Chinese individuals. PMID: 24857170
  35. expression of erythroid Kruppel-like factor (EKLF) precedes PlGF, and its enforced expression in erythroid progenitor cells induces PlGF mRNA PMID: 24916507
  36. findings suggest that KLF1 mutations occur selectively in the presence of beta-thalassemia to increase the production of HbF, which in turn ameliorates the clinical severity of beta-thalassemia. PMID: 24829204
  37. Select activation-degradation regions like the ones found in EKLF and SREBP1a function in part through their ability to form noncovalent interactions with ubiquitin. PMID: 24139988
  38. The frequency of rare Lu(a-b-) blood group in Shanghai was approximately 0.02%, and all the individuals had an In(Lu) phenotype. The molecular basis of such samples may be related to mutations in the EKLF/KLF1 gene. PMID: 24711040
  39. Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. PMID: 24443441
  40. Data suggest that the Kruppel-like factor 1 (KLF) mutations could be one of the causes of hereditary persistence of fetal hemoglobin (HPFH) in regions where thalassemias are common. PMID: 23806141
  41. KLF1 conscripts the adult-stage beta-globin gene to replace the gamma-globin gene within the active chromatin hub in a stage-specific manner. PMID: 23474875
  42. Regulators, including BCL11A, MYB, and KLF1, hold great promise to develop targeted and more effective approaches for HbF induction PMID: 23209159
  43. Data show that KLF1 haploinsufficiency is responsible for the In(Lu) blood type. PMID: 23125034
  44. Simvastatin and tBHQ suppress KLF1 and BCL11 gene expression and additively increase fetal hemoglobin in primary human erythroid cells. PMID: 23223429
  45. The 1st KLF1 gene promoter mutation (KLF1:g.-148G > A) associated with increased HbF resides in an Sp1 binding site & prevents Sp1 binding. It is involved in human fetal globin gene switching. PMID: 23161389
  46. EKLF mRNA level was significantly decreased in the blood and bone marrow of 5q- syndrome and in all Diamond-Blackfan anemia patients. PMID: 22965552
  47. Mutated KLF1 results in delayed fetal hemoglobin switching in humans, confirming previous in vitro and animal studies and the crucial role of KLF1 in regulating globin gene expression. PMID: 22093801
  48. Studies show that Ppm1b plays a multilayered role in regulating the availability and optimal activity of the EKLF protein in erythroid cells. PMID: 22393050
  49. KLF1 mutations could make a significant contribution to Hb F variance in malarial regions where hemogobinopathies are common. A single altered KLF1 allele is sufficient to increase Hb F levels. PMID: 22102705
  50. Six different KLF1 mutations were identified in 52 of 145 subjects with borderline HBA2 and normal mean corpuscular volume and mean corpuscular hemoglobin. PMID: 21821711
  51. E325K protein may therefore actively interfere with EKLF-dependent processes by destabilizing transcription complexes, providing a rational explanation for the severity of the disease phenotype. PMID: 21778342
  52. Data show that the association of KLF1 mutations with very high levels of zinc protoporphyrin. PMID: 21273267
  53. solution structure of the EKLFTAD2/Tfb1PH complex indicates that EKLFTAD2 binds Tfb1PH in an extended conformation, which is in contrast to the alpha-helical conformation seen for p53TAD2 in complex with Tfb1PH PMID: 21670263
  54. The effect of EKLF on megakaryocyte-erythroid progenitor lineage decision and commitment is cell autonomous in bone marrow reconstitution assays where stem cells lacking EKLF favor the megakaryocyte differentiation pathway. PMID: 19850899
  55. KLF1 Directly Coordinates Almost All Aspects of Terminal Erythroid Differentiation. PMID: 21190291
  56. KLF1, a vital erythroid transcription factor, activates BCL11A and assists in coordinating the switch from fetal to adult hemoglobin PMID: 21157349
  57. the study of this disease-causing mutation in KLF1 provides further insights into the roles of this transcription factor during erythropoiesis in humans. PMID: 21055716
  58. Overexpression of either KLF1 or LMO2 partially rescued the defect in erythropoiesis caused by c-myb silencing, whereas only KLF1 was also able to repress the megakaryocyte differentiation enhanced in Myb-silenced CD34+ cells. PMID: 20686118
  59. Results indicate that detailed analysis of the distribution of the HBB gene mutations is useful for genetic counseling in the region. PMID: 20642331
  60. KLF1 controls globin gene switching by directly activating beta-globin and indirectly repressing gamma-globin gene expression. PMID: 20676097
  61. Haploinsufficiency for KLF1 causes hereditary persistence of fetal hemoglobin. PMID: 20676099
  62. nuclear localization determinants of EKLF depend on basic residues with the Kruppel zinc finter dna binding domains PMID: 11844803
  63. bifunctional control of IL-12 p40 by EKLF and its modulation of NFkappaB support a potential function for this factor in orchestrating IL-12 p40 production in macrophages PMID: 14976188
  64. Erythroid Kruppel-like factor (EKLF; KLF1) is a transcription factor, originally identified in this laboratory, which plays a crucial role as a transcriptional activator at the adult beta-globin locus. PMID: 16184297
  65. Our results further indicate that in hematopoietic progenitors, EKLF influences chromatin organization at the human beta-globin locus and is instrumental for human beta-gene potentiation PMID: 16858401
  66. Sp1/Sp3, but not EKLF, is involved in the activation of the GATA-1 erythroid promoter, and that histones H3 and H4 are highly acetylated in this promoter region for an actively transcribed GATA-1 PMID: 18195733
  67. These studies suggest there is an unexplored role for EKLF in the cytoplasm that is separate from its well-characterized nuclear function. PMID: 18329016
  68. A search for mutations in erythroid transcription factors showed mutations in the promoter or coding sequence of EKLF in 21 of 24 persons with the In(Lu) phenotype. PMID: 18487511
  69. EKLF restricts megakaryocytic differentiation to the benefit of erythrocytic differentiation and suggest that this might be at least partially mediated by the inhibition of FLI-1 recruitment to megakaryocytic and Fli-1 gene promoters. PMID: 18523154
  70. A higher expression of EKLF was found in secondary AML versus primary AML. Nevertheless, patients expressing EKLF had a longer overall survival and event free survival than those patients that did not express EKLF. PMID: 19097174
  71. EKLF and the co-activator BRG1 are co-opted by short-chain fatty acid derivatives to activate the gamma globin genes PMID: 19220418
  72. EKLF directs different modes of tissue-specific transcriptional activation depending on the architecture of its target core promoter. PMID: 19251649

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Involvement in disease Anemia, congenital dyserythropoietic, 4 (CDAN4)
Subcellular Location Nucleus
Protein Families Krueppel C2H2-type zinc-finger protein family
Tissue Specificity Expression restricted to adult bone marrow and fetal liver. Not expressed in myeloid nor lymphoid cell lines.
Database Links

HGNC: 6345

OMIM: 111150

KEGG: hsa:10661

STRING: 9606.ENSP00000264834

UniGene: Hs.37860

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