MGP Database

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MGP003702

UniProt Annotations

Entry Information
Gene Namedolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
Protein EntryDPM2_HUMAN
UniProt IDO94777
SpeciesHuman
Comments
Comment typeDescription
DiseaseCongenital disorder of glycosylation 1U (CDG1U) [MIM:615042]: 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. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-dystroglycan. {ECO:0000269|PubMed:23109149}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRegulates the biosynthesis of dolichol phosphate- mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity. {ECO:0000269|PubMed:10944123}.
PathwayProtein modification; protein glycosylation.
SimilarityBelongs to the DPM2 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 interacts directly with DPM3. Associates with the GPI-GlcNAc transferase (GPI-GnT) complex. {ECO:0000269|PubMed:10835346}.
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=DPM2";
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