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Aliases for PKLR Gene

Aliases for PKLR Gene

  • Pyruvate Kinase, Liver And RBC 2 3 5
  • 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 2.7.1.40 4 63
  • PKL 3 4
  • PK1 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 Metabolism and Glycosaminoglycan metabolism. 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

Chromosome:
1
Start:
155,289,293 bp from pter
End:
155,308,709 bp from pter
Size:
19,417 bases
Orientation:
Minus strand

Genomic View for PKLR Gene

Genes around PKLR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKLR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P30613-KPYR_HUMAN
    Recommended name:
    Pyruvate kinase PKLR
    Protein Accession:
    P30613
    Secondary Accessions:
    • O75758
    • P11973

    Protein attributes for PKLR Gene

    Size:
    574 amino acids
    Molecular mass:
    61830 Da
    Cofactor:
    Name=K(+); Xref=ChEBI:CHEBI:29103;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • 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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

P30613

UniProtKB/Swiss-Prot:

KPYR_HUMAN :
  • Belongs to the pyruvate kinase family.
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:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PKLR: view
genes like me logo Genes that share phenotypes with PKLR: view

Human Phenotype Ontology for PKLR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for PKLR Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PKLR Gene COMPARTMENTS Subcellular localization image for PKLR gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 2
chloroplast 1
cytoskeleton 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PKLR Gene

Pathways & Interactions for PKLR Gene

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

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 IEA --
GO:0006006 glucose metabolic process TAS --
GO:0006096 glycolytic process IEA --
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: HMDB, Novoseek, 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: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
2793-06-8
dGDP
  • 2'-Deoxy-GDP
  • 2'-Deoxyguanosine-5'-diphosphate
  • 5'-dGDP
  • Deoxyguanosine 5'-diphosphate
  • Deoxyguanosine diphosphate
3493-09-2
IDP
  • 5'-IDP
  • IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
86-04-4
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:

Inhibitory RNA Products

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
PKLR
ECgene alternative splicing isoforms for
PKLR

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
cow
(Bos Taurus)
Mammalia PKLR 35
  • 90.35 (n)
  • 92.47 (a)
PKLR 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKLR 35
  • 89.43 (n)
  • 92.51 (a)
PKLR 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pklr 35
  • 86.35 (n)
  • 91.81 (a)
Pklr 16
Pklr 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PKLR 35
  • 99.75 (n)
  • 99.44 (a)
PKLR 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pklr 35
  • 87.06 (n)
  • 92.98 (a)
oppossum
(Monodelphis domestica)
Mammalia PKLR 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKLR 36
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii -- 35
pklr 35
  • 67.75 (n)
  • 69.02 (a)
CABZ01066502.1 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2964 36
  • 41 (a)
ManyToMany
CG7069 36
  • 27 (a)
ManyToMany
CG7362 36
  • 22 (a)
ManyToMany
PyK 36
  • 58 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pyk-1 36
  • 35 (a)
ManyToMany
pyk-2 36
  • 55 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PYK2 35
  • 52.96 (n)
  • 50.7 (a)
CDC19 36
  • 49 (a)
ManyToMany
PYK2 36
  • 50 (a)
ManyToMany
PYK2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G04050 35
  • 52.05 (n)
  • 48.09 (a)
soybean
(Glycine max)
eudicotyledons Gma.4073 35
rice
(Oryza sativa)
Liliopsida Os.7908 35
wheat
(Triticum aestivum)
Liliopsida Ta.21113 35
corn
(Zea mays)
Liliopsida Zm.7002 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PKLR (if available)
TreeFam:
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
VAR_004028 Pyruvate kinase deficiency of red cells (PKRD)
VAR_004030 Pyruvate kinase deficiency of red cells (PKRD)
VAR_004031 Pyruvate kinase deficiency of red cells (PKRD)
VAR_004032 Pyruvate kinase deficiency of red cells (PKRD)
VAR_004033 Pyruvate kinase deficiency of red cells (PKRD)

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: 35% 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
PKLR
Human Gene Mutation Database (HGMD)
PKLR

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

Disorders for PKLR Gene

MalaCards: The human disease database

(13) 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 - COSMIC cancer census association via MalaCards
Search PKLR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KPYR_HUMAN
  • 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)
PKLR
Human Genome Epidemiology (HuGE) Navigator
PKLR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKLR
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) 3 23 25 26
  2. Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. (PMID: 1536957) Kanno H. … Miwa S. (Blood 1992) 3 4 48 67
  3. 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
  4. Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. (PMID: 18759866) Kedar P. … Colah R. (Clin. Genet. 2009) 3 23
  5. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK. (PMID: 19085939) van Wijk R. … van Solinge W.W. (Hum. Mutat. 2009) 3 23

Products for PKLR Gene

Sources for PKLR Gene

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