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UniProt functional annotation for P07738 | ||
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| UniProt code: P07738. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Plays 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 5.4.2.11) activity. {ECO:0000269|PubMed:21045285}. |
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| Catalytic activity: | |
Reaction=(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3- bisphosphoglycerate + H(+); Xref=Rhea:RHEA:17765, ChEBI:CHEBI:15378, ChEBI:CHEBI:57604, ChEBI:CHEBI:58248; EC=5.4.2.4; Evidence={ECO:0000269|PubMed:21045285}; |
| Catalytic activity: | |
Reaction=(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate; Xref=Rhea:RHEA:15901, ChEBI:CHEBI:58272, ChEBI:CHEBI:58289; EC=5.4.2.11; Evidence={ECO:0000269|PubMed:21045285}; |
| Activity regulation: | |
At 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}. |
| Subunit: | |
Homodimer. {ECO:0000269|PubMed:15258155, ECO:0000269|PubMed:17052986}. |
| Tissue specificity: | |
Expressed 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}. |
| Ptm: | |
Glycation of Lys-159 in diabetic patients inactivates the enzyme. |
| Disease: | |
Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]: An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. {ECO:0000269|PubMed:1421379, ECO:0000269|PubMed:15054810, ECO:0000269|PubMed:2542247}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.