ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)8 (PP-Dol)1

Stable Identifier
R-HSA-446216
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
Addition of the last mannose to the N-glycan precursor by ALG9
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The last mannose is added to the N-glycan precursor. This reaction occurs in the ER lumen, uses Dolichyl phosphate D-mannose as the mannose donor, and is catalyzed by ALG9. Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L) (Frank CG et al, 2004; Weinstein M et al, 2005). For many years ALG9 was thought to be involved in bipolar affective disorder (Baysal BE et al, 2002), but this hypothesis has been proven wrong (Baysal BE et al, 2006).

Literature References
PubMed ID Title Journal Year
15148656 Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL

Frank, CG, Grubenmann, CE, Eyaid, W, Berger, EG, Aebi, M, Hennet, T

Am J Hum Genet 2004
12030331 A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family

Baysal, BE, Willett-Brozick, JE, Badner, JA, Corona, W, Ferrell, RE, Nimgaonkar, VL, Detera-Wadleigh, SD

Neurogenetics 2002
16859551 Common variations in ALG9 are not associated with bipolar I disorder: a family-based study

Baysal, BE, Willett-Brozick, JE, Bacanu, SA, Detera-Wadleigh, S, Nimgaonkar, VL

Behav Brain Funct 2006
15945070 CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features

Weinstein, M, Schollen, E, Matthijs, G, Neupert, C, Hennet, T, Grubenmann, CE, Frank, CG, Aebi, M, Clarke, JT, Griffiths, A, Seargeant, L, Poplawski, N

Am J Med Genet A 2005
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
alpha-1,2-mannosyltransferase activity of ALG9 [endoplasmic reticulum membrane]
Physical Entity
Activity
This event is regulated
Orthologous Events
Authored
Reviewed
Created