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MGP002303

UniProt Annotations

Entry Information
Gene Namepyruvate kinase, liver and RBC
Protein EntryKPYR_HUMAN
UniProt IDP30613
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=R-type; Synonyms=PKR; IsoId=P30613-1; Sequence=Displayed; Name=L-type; Synonyms=PKL; IsoId=P30613-2; Sequence=VSP_002883;
Catalytic ActivityATP + pyruvate = ADP + phosphoenolpyruvate.
CofactorName=K(+); Xref=ChEBI:CHEBI:29103;
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420;
DiseasePyruvate 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.23}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePyruvate 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.
Enzyme RegulationAllosterically activated by fructose 1,6- bisphosphate. {ECO:0000269|PubMed:11960989}.
FunctionPlays a key role in glycolysis. {ECO:0000250}.
MiscellaneousThere 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.
PathwayCarbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 5/5.
Sequence CautionSequence=BAA02515.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the pyruvate kinase family. {ECO:0000305}.
SubunitHomotetramer. {ECO:0000269|PubMed:11960989}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pklr/";
Web ResourceName=PKLR Mutation Database; URL="http://www.pklrmutationdatabase.com/";
Web ResourceName=Wikipedia; Note=Pyruvate kinase entry; URL="http://en.wikipedia.org/wiki/Pyruvate_kinase";
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