LMPD Database

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LMP006110

UniProt Annotations

Entry Information
Gene Namedolichyl-phosphate mannosyltransferase polypeptide 3
Protein EntryDPM3_HUMAN
UniProt IDQ9P2X0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Short; IsoId=Q9P2X0-1; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=Q9P2X0-2; Sequence=VSP_001308;
DiseaseCongenital disorder of glycosylation 1O (CDG1O) [MIM:612937]: 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. CDG1O patients have increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan. {ECO:0000269|PubMed:19576565}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionStabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER. {ECO:0000269|PubMed:10835346}.
InteractionO60762:DPM1; NbExp=4; IntAct=EBI-9087337, EBI-719526; Q9Z325:Dpm2 (xeno); NbExp=2; IntAct=EBI-9087337, EBI-9097185;
PathwayProtein modification; protein glycosylation.
SimilarityBelongs to the DPM3 family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Multi-pass membrane protein.
SubunitComponent of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; in the complex associated with DPM1 via its C-terminal domain and with DPM2 via its N-terminal portion. {ECO:0000269|PubMed:10835346}.
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=DPM3";