Property Summary

NCBI Gene PubMed Count 87
Grant Count 2
Funding $64,946
PubMed Score 217.25
PubTator Score 237.65

Knowledge Summary

Patent (92,775)

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 1.600 0.000
psoriasis -4.000 0.000
osteosarcoma -4.173 0.000
glioblastoma 1.100 0.000
medulloblastoma, large-cell 1.400 0.000

Synonym

Accession P30613 O75758 P11973
Symbols PK1
PKL
PKR
RPK
PKRL

Gene

 Grant Application (2)

PDB

2VGB   2VGF   2VGG   2VGI   4IMA   4IP7  

MLP Assay (12)

AID Type Active / Inconclusive / Inactive Description
1541 confirmatory 7 / 87 / 26 Secondary assay for Activators of Human Liver Pyruvate Kinase
1543 confirmatory 8 / 79 / 21 Secondary assay for Activators of Human Reticulocyte Pyruvate Kinase
1781 confirmatory 0 / 32 / 81 Confirmation Concentration-Response Assay for Activators of Human Liver Pyruvate Kinase
1782 confirmatory 1 / 43 / 69 Confirmation Concentration-Response Assay for Activators of Human Reticulocyte Pyruvate Kinase
2534 confirmatory 0 / 3 / 95 Secondary Concentration-Response Assay for Activators of Human Reticulocyte Pyruvate Kinase: for Probe SAR
2535 confirmatory 0 / 2 / 189 Secondary Concentration-Response Assay for Activators of Human Liver Pyruvate Kinase: for Probe SAR
2562 confirmatory 1 / 24 / 138 Secondary LDH Assay for Activators of Human Reticulocyte Pyruvate Kinase: for Probe SAR
2625 confirmatory 0 / 19 / 174 Secondary LDH Assay for Activators of Human Liver Pyruvate Kinase: for Probe SAR
602379 confirmatory 0 / 0 / 6 qHTS for Activators of Human Muscle Isoform Pyruvate Kinase: Extended Characterization against Liver Pyruvate Kinase
602381 confirmatory 0 / 0 / 6 qHTS for Activators of Human Muscle Isoform 2 Pyruvate Kinase (PK): Extended Characterization using Reticulocyte PK
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Gene RIF (49)

PMID Text
26832193 An update of PKLR gene mutation database has been presented. (Review)
26829734 661G>A and 1528C>T mutations of PKLR gene are associated with pyruvate kinase deficiency.
26784545 PKLR promotes colorectal cancer liver colonization through induction of glutathione synthesis.
26728349 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.
26658699 Pyruvate kinase variants modulate malaria phenotypes in a Thai population.
25629396 This study determined which interactions in the fructose 1,6-bisphosphate binding site of human liver pyruvate kinase contribute to allostery.
25388786 Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis.
24969675 Case Report: unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.
24533562 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).
24375447 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.
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AA Sequence

MSIQENISSLQLRSWVSKSQRDLAKSILIGAPGGPAGYLRRASVAQLTQELGTAFFQQQQLPAAMADTFL      1 - 70
EHLCLLDIDSEPVAARSTSIIATIGPASRSVERLKEMIKAGMNIARLNFSHGSHEYHAESIANVREAVES     71 - 140
FAGSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKGSQVLVTVDPAFRTRGNANTVWVDYPNIVRV    141 - 210
VPVGGRIYIDDGLISLVVQKIGPEGLVTQVENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGV    211 - 280
DIVFASFVRKASDVAAVRAALGPEGHGIKIISKIENHEGVKRFDEILEVSDGIMVARGDLGIEIPAEKVF    281 - 350
LAQKMMIGRCNLAGKPVVCATQMLESMITKPRPTRAETSDVANAVLDGADCIMLSGETAKGNFPVEAVKM    351 - 420
QHAIAREAEAAVYHRQLFEELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTTTGRSAQLLSRYRPR    421 - 490
AAVIAVTRSAQAARQVHLCRGVFPLLYREPPEAIWADDVDRRVQFGIESGKLRGFLRVGDLVIVVTGWRP    491 - 560
GSGYTNIMRVLSIS                                                            561 - 574
//

Text Mined References (90)

PMID Year Title
26832193 2016 Red blood cell PK deficiency: An update of PK-LR gene mutation database.
26829734 2016 [Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
26784545 2016 PKLR promotes colorectal cancer liver colonization through induction of glutathione synthesis.
26728349 2016 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.
26658699 2015 Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.
25629396 2015 Distinguishing the interactions in the fructose 1,6-bisphosphate binding site of human liver pyruvate kinase that contribute to allostery.
25388786 2015 Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis.
24969675 2014 A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.
24533562 2014 Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
24375447 2014 Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.
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