Recombinant Human Pyruvate kinase PKLR (PKLR)

1. A novel PKLR gene mutation was identified in members of a Chinese family with hemolytic anemia. PMID: 29349879
2. Results show that different residues contribute to the two allosteric functions: regulation by the activator fructose-1,6-bisphosphate (Fru-1,6-BP) and alanine, the inhibitor. Only a small fraction of mutated residues perturbed inhibition by alanine. In contrast, a large percentage of mutated residues influenced activation by Fru-1,6-BP; inhibition by alanine is not simply the reverse of activation by Fru-1,6-BP. PMID: 28407397
3. PKLR gene sequencing in 15 Spanish patients affected by pyruvate kinase deficiency (PKD) was performed. Six out of the 18 alleles found were new mutations which had not been described previously, with the PKLR c.721G>T mutation being the most prevalent (26.67%), followed by the PKLR c.1456C>T mutation (13.33%). PMID: 27871768
4. Gene copy number variation (CNV) of the PKLR, FCGR2A, FCGR2C, and FCGR3 genes is associated with malaria severity, and our results provide evidence for a role of CNV in host responses to malaria. PMID: 28605553
5. Genotype-phenotype correlations for the novel missense mutations found in the PKLR gene in PK deficiency among Tunisian cases were investigated by three-dimensional structure analysis. PMID: 28133914
6. Data show that pyruvate kinase (PK) activity was decreased in the GATA1 hemizygous state and PKLR c.1284delA variant. PMID: 27342114
7. An update of PKLR gene mutation database has been presented. (Review) PMID: 26832193
8. Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia. PMID: 26728349
9. PKLR promotes colorectal cancer liver colonization through induction of glutathione synthesis. PMID: 26784545
10. Pyruvate kinase variants modulate malaria phenotypes in a Thai population. PMID: 26658699
11. 661G>A and 1528C>T mutations of PKLR gene are associated with pyruvate kinase deficiency. PMID: 26829734
12. Case Report: unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice. PMID: 24969675
13. This study determined which interactions in the fructose 1,6-bisphosphate binding site of human liver pyruvate kinase contribute to allostery. PMID: 25629396
14. Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis. PMID: 25388786
15. Hemolytic anemia associated with a novel heterozygous mutation 1183A in the pyruvate kinase gene has been found in two unrelated Jordanian patients. PMID: 24330591
16. 11 patients from 10 unrelated pyruvate kinse deficiency families had 9 different disease-causing PKLR mutations, including 2 new ones: the point mutation c.878A>T (p.Asp293Val) and the frameshift deletion c.1553delG (p.(Arg518Leufs*12). PMID: 24533562
17. A new type of inherited PK hyperactivity having solely increased expression of a kinetically normal PK-R had no mutations or copy number variants. An upregulatory mutation at an unlinked site is proposed. PMID: 24375447
18. Herpes simplex virus type 1 virion-derived US11 inhibits type 1 interferon-induced protein kinase R phosphorylation. PMID: 23773021
19. A global geographical co-distribution between malaria and high frequency of PK deficiency seems to occur suggesting that malaria may be a selective force raising the frequency of this 277Lys variant. PMID: 23082140
20. investigation of structure-function relationship of the N-terminus of liver pyruvate kinase and its regulation by oxidation/oxidative coupling and post-translational phosphorylation PMID: 23270483
21. Rich genetic diversity was detected in PKLR, including 59 single-nucleotide polymorphisms and several loss-of-function variants (frequency 1.5%). PMID: 21833022
22. These results suggest that SARS coronavirus could reduce pyruvate kinase activity via its nucleocapsid protein, and this may in turn cause disease. PMID: 22222284
23. We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States PMID: 21784452
24. The results reveal an acetylation regulation of pyruvate kinase and the link between lysine acetylation and chaperone-mediated autophagy. PMID: 21700219
25. Studies indicate that switching from pyruvate kinase spliced isoform PKM1 to PKM2 promotes aerobic glycolysis and provides a selective advantage for tumor formation, and the alternative splicing is controlled by hnRNP family members. PMID: 20978194
26. Expression of pAkt, GLUT1 and TKTL1 were higher in breast cancer and DCIS than in normal tissue. Surprisingly, M2PK expression was highest in normal breast tissue. PMID: 19655166
27. Erythrocyte pyruvate kinase was modified with bromopyruvate and the kinetic behavior of the modified enzyme was investigated as model for the mutant enzyme associated with nonspherocytic hemolytic anemia. PMID: 11916152
28. first crystal structure of recombinant erythrocyte pyruvate kinase and the biochemical characterization of eight mutants found in nonspherocytic hemolytic anemia patients PMID: 11960989
29. PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations. PMID: 12107439
30. Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians. PMID: 12196482
31. regulatory element is a necessary transcriptional regulatory element in the erythroid-specific promoter of the human pyruvate kinase gene PMID: 15727904
32. The current work exploits a 'natural screen'- the 122 point mutations identified in the human gene encoding the erythrocyte PYK isozyme and associated with nonspherocytic hemolytic anemia. PMID: 16540430
33. genotype-phenotype association in pyruvate kinase deficiency [review] PMID: 17360088
34. Northern Ireland has uncovered 4 new cases of pyruvate kinase deficiency. Molecular investigation revealed a total of six different mutations PMID: 17574881
35. 14 different mutations in the coding sequence of the R-PK gene in 74 Iranian individuals with low enzyme activity were identified; the most common were the G1168A and G1529A mutations at exon 11 occurring in 54% of the cases PMID: 17977029
36. pyruvate kinase deficiency provides protection against infection and replication of P. falciparum in human erythrocytes, raising the possibility that mutant pyruvate kinase alleles may confer a protective advantage against malaria in human populations PMID: 18420493
37. Pyruvate kinase deficiency protects against malaria in humans PMID: 18460648
38. The investigators identified a patient with pyruvate kinase deficiency caused by a mutation in the PK-LR gene. PMID: 18683378
39. identified the -148C>T mutation in the erythroidspecific promoter of PKLR in 3 unrelated patients with low PK activity PMID: 18698090
40. pyruvate kinase gene mutations are associated with anemia in pyruvate kinase deficient patients. PMID: 18726918
41. This is the first study to correlate the clinical profile with the molecular defects causing PK deficiency from India where 10 novel mutations that produce non-spherocytic haemolytic anaemia were identified. PMID: 18759866
42. Data report novel alterations of enzymescinvolved in glucose metabolism, including pyruvate kinase, that may be associated with the pathophysiology of insulin resistance and of renal damage in patients with type 1 diabetes mellitus with nephropathy. PMID: 18840520
43. Results provided a rationale for the observed enzyme deficiency and contribute to both a better understanding of the genotype-to-phenotype correlation in PK deficiency as well as the enzyme's structure and function. PMID: 19085939
44. We failed to provide evidence of an association between PKLR rs3020781 and type 2 diabetes, overweight, obesity or related quantitative metabolic phenotypes in large-scale studies of Danes PMID: 19111066
45. Results are consistent with a mechanism by which phosphorylation at L-PYK Ser12 interrupts an activating interaction of N-terminal residues (including those at positions 7-10) with the main body of the protein, as a means of inhibiting substrate affinity PMID: 19320443
46. Decreased pyruvate kinase M2 expression to oxaliplatin resistance in patients with colorectal cancer. PMID: 19372549
47. These data suggest that reduced erythrocyte ATP levels may contribute to the malaria protection displayed by pyruvate kinase deficient erythrocytes in vitro. PMID: 19743919

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HGNC: 9020

OMIM: 102900

KEGG: hsa:5313

STRING: 9606.ENSP00000339933

UniGene: Hs.95990