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Defective DPM1 causes CDG-1e

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-4717374

PubChem

R-HSA-4717374

Description

Dolichyl-phosphate mannosyltransferase (DPM), a heterotrimeric protein embedded in the endoplasmic reticulum membrane, mediates the transfer of mannose (from cytosolic GDP-mannose) to dolichyl phosphate (DOLP) to form dolichyl-phosphate-mannose (DOLPman). The first subunit of the heterotrimer (DPM1) appears to be the actual catalyst, and the other two subunits (DPM2 and 3) appear to stabilise it (Maeda et al. 2000). Defects in DPM1 can cause congenital disorder of glycosylation 1e (DPM1-CDG, CDG-1e; MIM:608799), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Kim et al. 2000, Imbach et al. 2000, Garcia-Silva et al. 2004).

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SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
Q9P2X0	Dolichol-phosphate mannosyltransferase subunit 3	DPM3	view

Displaying 1 entry
GlyCosmos Lectin	UniProt ID	Lectin Name	Pathway Viewer
GL_004645	O60762	Dolichol-phosphate mannosyltransferase subunit 1	view

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