Entity Details

Primary name DPM3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P2X0
EntryNameDPM3_HUMAN
FullNameDolichol-phosphate mannosyltransferase subunit 3
TaxID9606
Evidenceevidence at protein level
Length92
SequenceStatuscomplete
DateCreated2002-01-23
DateModified2021-06-02

Ontological Relatives

GenesDPM3

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005975 carbohydrate metabolic process
GO:0006506 GPI anchor biosynthetic process
GO:0008047 enzyme activator activity
GO:0016020 membrane
GO:0018279 protein N-linked glycosylation via asparagine
GO:0018406 protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031501 mannosyltransferase complex
GO:0031647 regulation of protein stability
GO:0033185 dolichol-phosphate-mannose synthase complex
GO:0035268 protein mannosylation
GO:0035269 protein O-linked mannosylation

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR013174 Dolichol-phosphate mannosyltransferase subunit 3FamilyFamily

Diseases

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Disease IDSourceNameDescription
612937 OMIMMuscular dystrophy-dystroglycanopathy limb-girdle C15 (MDDGC15)An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions