Entity Details

Primary name PGM1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP36871
EntryNamePGM1_HUMAN
FullNamePhosphoglucomutase-1
TaxID9606
Evidenceevidence at protein level
Length562
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesPGM1

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0004614 phosphoglucomutase activity
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005975 carbohydrate metabolic process
GO:0005978 glycogen biosynthetic process
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0043312 neutrophil degranulation
GO:0070062 extracellular exosome
GO:1904724 tertiary granule lumen
GO:1904813 ficolin-1-rich granule lumen

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR005841 Alpha-D-phosphohexomutase superfamilyFamilyFamily
IPR005843 Alpha-D-phosphohexomutase, C-terminalDomainDomain
IPR005844 Alpha-D-phosphohexomutase, alpha/beta/alpha domain IDomainDomain
IPR005845 Alpha-D-phosphohexomutase, alpha/beta/alpha domain IIDomainDomain
IPR005846 Alpha-D-phosphohexomutase, alpha/beta/alpha domain IIIDomainDomain
IPR016055 Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/IIIFamilyHomologous superfamily
IPR016066 Alpha-D-phosphohexomutase, conserved siteSiteConserved site
IPR036900 Alpha-D-phosphohexomutase, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614921 OMIMCongenital disorder of glycosylation 1T (CDG1T)A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB02835 Alpha-D-Glucose 1,6-BisphosphateDrugbanksmall molecule
DB04397 Alpha-D-Glucose-1-Phosphate-6-VanadateDrugbanksmall molecule
DB06773 Human calcitoninDrugbankbiotech