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MGP002264

UniProt Annotations

Entry Information
Gene Namephosphoglycerate kinase 1
Protein EntryPGK1_HUMAN
UniProt IDP00558
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P00558-1; Sequence=Displayed; Name=2; IsoId=P00558-2; Sequence=VSP_056159; Note=No experimental confirmation available.;
Catalytic ActivityATP + 3-phospho-D-glycerate = ADP + 3-phospho- D-glyceroyl phosphate.
DiseasePhosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. {ECO:0000269|PubMed:1547346, ECO:0000269|PubMed:1586722, ECO:0000269|PubMed:2001457, ECO:0000269|PubMed:6933565, ECO:0000269|PubMed:6941312, ECO:0000269|PubMed:8043870, ECO:0000269|PubMed:8615693, ECO:0000269|PubMed:8673469, ECO:0000269|PubMed:9744480}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionIn addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein).
InteractionP04406:GAPDH; NbExp=2; IntAct=EBI-709599, EBI-354056;
PathwayCarbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 2/5.
SimilarityBelongs to the phosphoglycerate kinase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitMonomer. {ECO:0000269|PubMed:18463139}.
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PGK1";
Web ResourceName=Wikipedia; Note=Phosphoglycerate kinase entry; URL="http://en.wikipedia.org/wiki/Phosphoglycerate_kinase";
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