Entity Details

Primary name PMGE_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP07738
EntryNamePMGE_HUMAN
FullNameBisphosphoglycerate mutase
TaxID9606
Evidenceevidence at protein level
Length259
SequenceStatuscomplete
DateCreated1988-08-01
DateModified2021-06-02

Ontological Relatives

GenesBPGM

GO terms

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GOName
GO:0004082 bisphosphoglycerate mutase activity
GO:0004619 phosphoglycerate mutase activity
GO:0005829 cytosol
GO:0005975 carbohydrate metabolic process
GO:0006096 glycolytic process
GO:0007585 respiratory gaseous exchange by respiratory system
GO:0016787 hydrolase activity
GO:0048821 erythrocyte development
GO:0070062 extracellular exosome
GO:1901136 carbohydrate derivative catabolic process

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001345 Phosphoglycerate/bisphosphoglycerate mutase, active siteSiteActive site
IPR005952 Phosphoglycerate mutase 1FamilyFamily
IPR013078 Histidine phosphatase superfamily, clade-1FamilyFamily
IPR029033 Histidine phosphatase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
222800 OMIMErythrocytosis, familial, 8 (ECYT8)An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. The disease is caused by variants affecting the gene represented in this entry.