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  

Protein-protein Interaction (3)

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
//

Publication (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.
More...