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Aliases for PKLR Gene

Aliases for PKLR Gene

  • Pyruvate Kinase, Liver And RBC 2 3
  • PK1 3 4 6
  • 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
  • Pyruvate Kinase, Liver And Blood Cell 3
  • Pyruvate Kinase Isozymes R/L 3
  • Pyruvate Kinase Isozyme R/L 3
  • Pyruvate Kinase Type L 3
  • Pyruvate Kinase PKLR 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 adenosine triphosphate, elevated, of erythrocytes and pyruvate kinase deficiency. Among its related pathways are L1CAM interactions 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

Start:
155,289,293 bp from pter
End:
155,308,723 bp from pter
Size:
19,431 bases
Orientation:
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:
    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

  • Ubiquitination at Lys348 and Lys354
  • Modification sites at PhosphoSitePlus

Other Protein References for PKLR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for PKLR Gene

Suggested Antigen Peptide Sequences for PKLR Gene

Graphical View of Domain Structure for InterPro Entry

P30613

UniProtKB/Swiss-Prot:

KPYR_HUMAN :
  • P30613
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:0030955 potassium ion binding 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 Targeting 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 4
mitochondrion 3
cytoskeleton 2
endoplasmic reticulum 2
extracellular 2
nucleus 2
peroxisome 2
plasma membrane 2
chloroplast 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PKLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component --
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 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

Compounds for PKLR Gene

(19) HMDB Compounds for PKLR Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Carbon dioxide
  • Carbon oxide
124-38-9
CDP
  • CDP
63-38-7
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4

(3) Drugbank Compounds for PKLR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-Phosphoglycolic Acid
13147-57-4 target
Fructose-1,6-Diphosphate
target
Pyruvic acid
  • 2-Oxopropanoate
127-17-3 target

(12) Novoseek inferred chemical compound relationships for PKLR Gene

Compound -log(P) Hits PubMed IDs
pyruvate 88.7 77
phosphoenolpyruvate 43 2
glucose 39.5 18
carbohydrates 28 2
alpha-ketoglutarate 24.4 2
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

Primer 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 (29.7) and Kidney - Cortex (12.6).

Protein differential expression in normal tissues for PKLR Gene

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

Integrated Proteomics: protein expression 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 expressions with PKLR: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and 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

Selected 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)GGGTG synonymous-codon, reference
rs1052177 -- 155,290,559(-) CTCCC(C/T)CCTCT utr-variant-3-prime
rs1888929 -- 155,306,383(-) TGGCA(A/T)GCGTC intron-variant
rs2071053 -- 155,295,386(-) GCGCC(C/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

Relevant External Links for PKLR Gene

HapMap Linkage Disequilibrium report
PKLR
Human Gene Mutation Database (HGMD)
PKLR
Locus Specific Mutation Databases (LSDB)
PKLR

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

Disorders for PKLR Gene

(2) OMIM Diseases for PKLR Gene (609712)

UniProtKB/Swiss-Prot

KPYR_HUMAN
  • 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.
  • 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.

(4) University of Copenhagen DISEASES for PKLR Gene

(8) Novoseek inferred disease relationships for PKLR Gene

Disease -log(P) Hits PubMed IDs
pyruvate kinase deficiency 96.7 14
hereditary nonspherocytic hemolytic anemia 93.8 2
anemia hemolytic 76.9 11
gaucher disease 67.4 2
anemia hemolytic congenital 64.4 1

Genatlas disease for PKLR Gene

Hemolytic anemia

Relevant External Links for PKLR

Genetic Association Database (GAD)
PKLR
Human Genome Epidemiology (HuGE) Navigator
PKLR
genes like me logo Genes that share disorders with PKLR: view

Publications for PKLR Gene

  1. Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. (PMID: 8161798) Kanno H. … Bowman H.S. (Blood 1994) 3 4 23
  2. Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia. (PMID: 8180378) Lenzner C. … Jacobasch G. (Blood 1994) 3 4 23
  3. Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK. (PMID: 8476433) Kanno H. … Miwa S. (Biochem. Biophys. Res. Commun. 1993) 3 4 23
  4. Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. (PMID: 8483951) Baronciani L. … Beutler E. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 23
  5. G-to-T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. (PMID: 9090535) Beutler E. … Roos D. (Hum. Mutat. 1997) 3 4 23

Products for PKLR Gene

  • Addgene plasmids for PKLR

Sources for PKLR Gene

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