Defective DPM1 does not transfer mannose to DOLP to form DOLPman

Stable Identifier
R-HSA-4717406
Type
Reaction [transition]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane, cytosol, cytoplasmic side of endoplasmic reticulum membrane
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective DPM1 does not transfer mannose to DOLP to form DOLPman
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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). Frameshift mutations that can cause DPM1-CDG are G111Lfs*45, Q210Rfs*4 as well as the point mutation R92G (Kim et al. 2000, Imbach et al. 2000).
Literature References
PubMed ID Title Journal Year
10835346 Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

Maeda, Y, Tanaka, S, Hino, J, Kangawa, K, Kinoshita, T

EMBO J 2000
10642602 Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Imbach, T, Schenk, B, Schollen, E, Burda, P, Stutz, A, Grunewald, S, Bailie, NM, King, MD, Jaeken, J, Matthijs, G, Berger, EG, Aebi, M, Hennet, T

J. Clin. Invest. 2000
10642597 Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Kim, S, Westphal, V, Srikrishna, G, Mehta, DP, Peterson, S, Filiano, J, Karnes, PS, Patterson, MC, Freeze, HH

J. Clin. Invest. 2000
15669674 Congenital disorder of glycosylation (CDG) type Ie. A new patient

García-Silva, MT, Matthijs, G, Schollen, E, Cabrera, JC, Sanchez del Pozo, J, Martí Herreros, M, Simón, R, Maties, M, Martín Hernández, E, Hennet, T, Briones, P

J. Inherit. Metab. Dis. 2004
Participants
Input
Participates
as an event of
Catalyst Activity

dolichyl-phosphate beta-D-mannosyltransferase activity of DPM1 mutants:DPM2:DPM3 [endoplasmic reticulum membrane]

Physical Entity
DPM1 mutants:DPM2:DPM3 [endoplasmic reticulum membrane] (Homo sapiens)
Activity
dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)
Normal reaction
dolichyl phosphate + GDP-alpha-D-mannose -> dolichyl phosphate D-mannose (Homo sapiens)
Functional status

Loss of function of DPM1 mutants:DPM2:DPM3 [endoplasmic reticulum membrane]

Normal Entity
Disease Entity
Status
Disease
Cross References
Mondo
Authored
Jassal, B  (2013-10-17)
Reviewed
Spillmann, D  (2015-04-30)
Created
Jassal, B  (2013-10-17)
Cite Us!