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Aliases for PKLR Gene

Aliases for PKLR Gene

  • Pyruvate Kinase, Liver And RBC 2 3
  • Red Cell/Liver Pyruvate Kinase 3 4
  • R-Type/L-Type Pyruvate Kinase 3 4
  • Pyruvate Kinase Isozymes L/R 3 4
  • Pyruvate Kinase 1 3 4
  • EC 4 63
  • PK1 3 4
  • PKL 3 4
  • Pyruvate Kinase, Liver And Blood Cell 3
  • Pyruvate Kinase Isozymes R/L 3
  • Pyruvate Kinase Isozyme R/L 3
  • Pyruvate Kinase Type L 3
  • PKRL 3
  • PKR 3
  • RPK 3

External Ids for PKLR Gene

Previous GeneCards Identifiers for PKLR Gene

  • GC01M153117
  • GC01M151000
  • GC01M152037
  • GC01M152476
  • GC01M152072
  • GC01M153526
  • GC01M155259
  • GC01M126621

Summaries for PKLR Gene

Entrez Gene Summary for PKLR Gene

  • The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PKLR Gene

PKLR (Pyruvate Kinase, Liver And RBC) is a Protein Coding gene. Diseases associated with PKLR include pyruvate kinase deficiency and adenosine triphosphate, elevated, of erythrocytes. Among its related pathways are Developmental Biology and Regulation of beta-cell development. GO annotations related to this gene include magnesium ion binding and pyruvate kinase activity. An important paralog of this gene is PKM.

UniProtKB/Swiss-Prot for PKLR Gene

  • Plays a key role in glycolysis.

Gene Wiki entry for PKLR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKLR Gene

Genomics for PKLR Gene

Regulatory Elements for PKLR Gene

Genomic Location for PKLR Gene

155,289,293 bp from pter
155,308,709 bp from pter
19,417 bases
Minus strand

Genomic View for PKLR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PKLR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKLR Gene

Proteins for PKLR Gene

  • Protein details for PKLR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pyruvate kinase PKLR
    Protein Accession:
    Secondary Accessions:
    • O75758
    • P11973

    Protein attributes for PKLR Gene

    574 amino acids
    Molecular mass:
    61830 Da
    Name=K(+); Xref=ChEBI:CHEBI:29103;
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homotetramer.
    • There are 4 isozymes of pyruvate kinase in mammals: L, R, M1 and M2. L type is major isozyme in the liver, R is found in red cells, M1 is the main form in muscle, heart and brain, and M2 is found in early fetal tissues
    • Sequence=BAA02515.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PKLR Gene

    Alternative splice isoforms for PKLR Gene


neXtProt entry for PKLR Gene

Proteomics data for PKLR Gene at MOPED

Post-translational modifications for PKLR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PKLR Gene

Antibody Products

Domains & Families for PKLR Gene

Suggested Antigen Peptide Sequences for PKLR Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the pyruvate kinase family.
  • Belongs to the pyruvate kinase family.
genes like me logo Genes that share domains with PKLR: view

No data available for Gene Families for PKLR Gene

Function for PKLR Gene

Molecular function for PKLR Gene

GENATLAS Biochemistry:
pyruvate kinase,homotetramer of 50.60kDa subunit,with two forms,one liver specific,the other erythrocyte specific,transcribed from a distinct promoter,glycolysis,energy pathway,generating ATP from ADP
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + pyruvate = ADP + phosphoenolpyruvate
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by fructose 1,6-bisphosphate.
UniProtKB/Swiss-Prot Function:
Plays a key role in glycolysis.

Enzyme Numbers (IUBMB) for PKLR Gene

Gene Ontology (GO) - Molecular Function for PKLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003824 catalytic activity --
GO:0004743 pyruvate kinase activity NAS 1445295
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PKLR: view
genes like me logo Genes that share phenotypes with PKLR: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PKLR

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PKLR Gene

Localization for PKLR Gene

Subcellular locations from

Jensen Localization Image for PKLR Gene COMPARTMENTS Subcellular localization image for PKLR gene
Compartment Confidence
extracellular 5
cytosol 4
chloroplast 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PKLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PKLR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PKLR Gene

Pathways & Interactions for PKLR Gene

genes like me logo Genes that share pathways with PKLR: view

PCR Array Products

UniProtKB/Swiss-Prot P30613-KPYR_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5

Gene Ontology (GO) - Biological Process for PKLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006096 glycolytic process --
GO:0006112 energy reserve metabolic process TAS --
genes like me logo Genes that share ontologies with PKLR: view

No data available for SIGNOR curated interactions for PKLR Gene

Drugs & Compounds for PKLR Gene

(20) Drugs for PKLR Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved Nutra Target 0
Adenosine triphosphate Approved Nutra 0
phosphoenolpyruvate Experimental Pharma 0
Fructose-1,6-Diphosphate Experimental Pharma Target 0
Phosphoglycolic acid Experimental Pharma Target 0

(12) Additional Compounds for PKLR Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
  • 2'-Deoxy-GDP
  • 2'-Deoxyguanosine-5'-diphosphate
  • 5'-dGDP
  • Deoxyguanosine 5'-diphosphate
  • Deoxyguanosine diphosphate
  • 5'-IDP
  • IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
genes like me logo Genes that share compounds with PKLR: view

Transcripts for PKLR Gene

Unigene Clusters for PKLR Gene

Pyruvate kinase, liver and RBC:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PKLR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKLR Gene

No ASD Table

Relevant External Links for PKLR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PKLR Gene

mRNA expression in normal human tissues for PKLR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKLR Gene

This gene is overexpressed in Liver (x29.7) and Kidney - Cortex (x12.6).

Protein differential expression in normal tissues from HIPED for PKLR Gene

This gene is overexpressed in Liver, secretome (41.8) and Liver (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PKLR Gene

SOURCE GeneReport for Unigene cluster for PKLR Gene Hs.95990

genes like me logo Genes that share expression patterns with PKLR: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PKLR Gene

Orthologs for PKLR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PKLR Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PKLR 35
  • 90.35 (n)
  • 92.47 (a)
  • 91 (a)
(Canis familiaris)
Mammalia PKLR 35
  • 89.43 (n)
  • 92.51 (a)
  • 90 (a)
(Mus musculus)
Mammalia Pklr 35
  • 86.35 (n)
  • 91.81 (a)
Pklr 16
Pklr 36
  • 91 (a)
(Pan troglodytes)
Mammalia PKLR 35
  • 99.75 (n)
  • 99.44 (a)
  • 95 (a)
(Rattus norvegicus)
Mammalia Pklr 35
  • 87.06 (n)
  • 92.98 (a)
(Monodelphis domestica)
Mammalia PKLR 36
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia PKLR 36
  • 49 (a)
(Danio rerio)
Actinopterygii -- 35
pklr 35
  • 67.75 (n)
  • 69.02 (a)
CABZ01066502.1 36
  • 60 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2964 36
  • 41 (a)
CG7069 36
  • 27 (a)
CG7362 36
  • 22 (a)
PyK 36
  • 58 (a)
(Caenorhabditis elegans)
Secernentea pyk-1 36
  • 35 (a)
pyk-2 36
  • 55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PYK2 35
  • 52.96 (n)
  • 50.7 (a)
CDC19 36
  • 49 (a)
PYK2 36
  • 50 (a)
PYK2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G04050 35
  • 52.05 (n)
  • 48.09 (a)
(Glycine max)
eudicotyledons Gma.4073 35
(Oryza sativa)
Liliopsida Os.7908 35
(Triticum aestivum)
Liliopsida Ta.21113 35
(Zea mays)
Liliopsida Zm.7002 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
Species with no ortholog for PKLR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for PKLR Gene

Gene Tree for PKLR (if available)
Gene Tree for PKLR (if available)

Paralogs for PKLR Gene

Paralogs for PKLR Gene

(2) SIMAP similar genes for PKLR Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PKLR: view

Variants for PKLR Gene

Sequence variations from dbSNP and Humsavar for PKLR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1052176 -- 155,290,592(-) TCATG(A/C/T)GGGTG synonymous-codon, reference, missense
rs1052177 -- 155,290,559(-) CTCCC(C/G/T)CCTCT utr-variant-3-prime
rs1888929 -- 155,306,383(-) TGGCA(A/T)GCGTC intron-variant
rs2071053 -- 155,295,386(-) GCGCC(A/C/G/T)GTAGG intron-variant
rs2990218 -- 155,296,220(-) AAGAA(G/T)GAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKLR Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV Loss 17160897
dgv132e1 CNV Complex 17122850
nsv872457 CNV Loss 21882294
nsv831636 CNV Loss 17160897
esv33869 CNV Loss 17666407
esv23319 CNV Gain 19812545
nsv436027 CNV Insertion 17901297
nsv3032 CNV Insertion 18451855
nsv872466 CNV Loss 21882294

Variation tolerance for PKLR Gene

Residual Variation Intolerance Score: 34.97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PKLR Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKLR Gene

Disorders for PKLR Gene

MalaCards: The human disease database

(12) MalaCards diseases for PKLR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
pyruvate kinase deficiency
  • hnsha
adenosine triphosphate, elevated, of erythrocytes
  • pyruvate kinase hyperactivity
hemolytic anemia due to red cell pyruvate kinase deficiency
  • pyruvate kinase deficiency of erythrocytes
congenital nonspherocytic hemolytic anemia
  • hereditary nonspherocytic hemolytic anemia
hemolytic anemia
  • anemia hemolytic
- elite association
Search PKLR in MalaCards View complete list of genes associated with diseases


  • Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. {ECO:0000269 PubMed:11328279, ECO:0000269 PubMed:1536957, ECO:0000269 PubMed:1896471, ECO:0000269 PubMed:19085939, ECO:0000269 PubMed:2018831, ECO:0000269 PubMed:21794208, ECO:0000269 PubMed:7706479, ECO:0000269 PubMed:8161798, ECO:0000269 PubMed:8180378, ECO:0000269 PubMed:8476433, ECO:0000269 PubMed:8481523, ECO:0000269 PubMed:8483951, ECO:0000269 PubMed:9482576, ECO:0000269 PubMed:9827908, ECO:0000269 PubMed:9886305, ECO:0000269 Ref.24}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by increase of red blood cell ATP. {ECO:0000269 PubMed:9090535}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PKLR Gene

hemolytic anemia

Relevant External Links for PKLR

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PKLR: view

Publications for PKLR Gene

  1. Pyruvate kinase deficient hemolytic anemia in the Northern Irish population. (PMID: 17574881) Percy M.J. … McMullin M.F. (Blood Cells Mol. Dis. 2007) 23 25 26 67
  2. In vitro and in vivo expression of human erythrocyte pyruvate kinase in erythroid cells: a gene therapy approach. (PMID: 17547515) Meza N.W. … Segovia J.C. (Hum. Gene Ther. 2007) 23 25 26 67
  3. Evaluation of thieno[3,2-b]pyrrole[3,2-d]pyridazinones as activators of the tumor cell specific M2 isoform of pyruvate kinase. (PMID: 20451379) Jiang J.K. … Thomas C.J. (Bioorg. Med. Chem. Lett. 2010) 23 67
  4. Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency. (PMID: 19309787) Manco L. … Ribeiro M.L. (Hum. Genet. 2009) 23 67
  5. Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency. (PMID: 19309805) Manco L. … Ribeiro M.L. (Hum. Genet. 2009) 23 67

Products for PKLR Gene

Sources for PKLR Gene

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