Defective B3GALTL does not transfer glucose to O-fucosyl-proteins

Stable Identifier
R-HSA-6785565
Type
Reaction [transition]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane, endoplasmic reticulum lumen
ReviewStatus
5/5
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Defective B3GALTL does not transfer glucose to O-fucosyl-proteins
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Human beta-1,3-glucosyltransferase-like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resultant glc-beta-1,3-fuc disaccharide modification on thrombospondin type 1 repeat (TSR1) domain-containing proteins is thought to assist in the secretion of many of these proteins from the ER lumen, and mediate an ER quality-control mechanism of folded TSRs (Vasudevan et al. 2015). Defects in B3GALTL can cause Peters plus syndrome (PpS; MIM:261540), an autosomal recessive disorder characterised by anterior eye chamber defects, short stature, delay in growth and mental developmental and cleft lip and/or palate (Heinonen & Maki 2009). More than 10 mutations in B3GALTL causing PsP are known (Weh et al. 2014) including the missense mutation G393E (Dassie Ajdid et al. 2009).
Literature References
PubMed ID Title Journal Year
19796186 Novel B3GALTL mutation in Peters-plus Syndrome

Vigouroux, A, Poidvin, A, Burglen, L, Calvas, P, Malecaze, F, Doummar, D, Chassaing, N, Causse, A, Teisseire, P, Kaplan, J, Dassie-Ajdid, J, Granier, M

Clin. Genet. 2009
23889335 Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Bick, D, Dills, SK, Murray, JC, Rhead, WJ, Reis, LM, Semina, EV, Wallace, S, McGregor, TL, Weh, E, Tyler, RC, Chao, MC

Clin. Genet. 2014
25544610 Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism

Vasudevan, D, Haltiwanger, RS, Johar, SS, Takeuchi, H, Majerus, E

Curr. Biol. 2015
18720094 Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats

Maki, M, Heinonen, TY

Ann. Med. 2009
Participants
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as an event of
Catalyst Activity

glycosyltransferase activity of B3GALTL G393E [endoplasmic reticulum membrane]

Physical Entity
B3GALTL G393E [endoplasmic reticulum membrane] (Homo sapiens)
Activity
glycosyltransferase activity (GO:0016757)
Normal reaction
B3GALTL transfers glucose to O-fucosyl-proteins (Homo sapiens)
Functional status

Loss of function of B3GALTL G393E [endoplasmic reticulum membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
eye disease DOID:5614 eye infection, eye infection (disorder), eye infection
orofacial cleft DOID:0050567
Authored
Jassal, B  (2015-06-29)
Reviewed
Hansen, L  (2015-12-18)
Joshi, HJ  (2015-12-18)
Created
Jassal, B  (2015-06-29)
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