MGP Database

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MGP000331

UniProt Annotations

Entry Information
Gene Name2,3-bisphosphoglycerate mutase
Protein EntryPMGE_HUMAN
UniProt IDP07738
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity2,3-bisphospho-D-glycerate + H(2)O = 3- phospho-D-glycerate + phosphate.
Catalytic Activity2-phospho-D-glycerate = 3-phospho-D-glycerate.
Catalytic Activity3-phospho-D-glyceroyl phosphate = 2,3- bisphospho-D-glycerate.
DiseaseBisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]: A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis. {ECO:0000269|PubMed:1421379, ECO:0000269|PubMed:15054810}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationAt alkaline pH BPGM favors the synthase reaction; however, at lower pH the phosphatase reaction is dominant. Inhibited by citrate. {ECO:0000269|PubMed:10477269, ECO:0000269|PubMed:21045285}.
FunctionPlays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3- bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.1) and phosphatase (EC 3.1.3.13) activities.
PtmGlycation of Lys-159 in diabetic patients inactivates the enzyme.
SimilarityBelongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:17052986}.
Tissue SpecificityExpressed in red blood cells. Expressed in non-erythroid cells of the placenta; present in the syncytiotrophoblast layer of the placental villi at the feto- maternal interface (at protein level). {ECO:0000269|PubMed:16246416, ECO:0000269|PubMed:3023066, ECO:0000269|PubMed:6313356}.
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