B4GAT1:LARGE transfers initial GlcA to matriglycan chain

Stable Identifier
R-HSA-5617143
Type
Reaction [transition]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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Beta-1,4-glucuronyltransferase 1 (B4GAT1) subunit of the B4GAT1:LARGE complex transfers a glucuronyl (GlcA) moiety from UDP-GlcA to the first Xyl moiety of growing matriglycan chains on alpha-dystroglycan (Bao et al., 2009; Praissman et al., 2014; Willer et al., 2014). Mutations in B4GAT1 can cause muscular dystrophy-dystroglycanopathies (MDDGA13, MIM:615287, Buysse et al., 2013).
Literature References
PubMed ID Title Journal Year
19587235 Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase

Fukuda, M, Bao, X, Nakayama, J, Gullberg, D, Kobayashi, M, Angata, K, Fukuda, MN, Hatakeyama, S

Proc. Natl. Acad. Sci. U.S.A. 2009
23359570 Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome

Babul-Hirji, R, Kamsteeg, EJ, van Bokhoven, H, Blaser, S, van Beusekom, E, Chitayat, D, van Reeuwijk, J, Powell, G, Lefeber, DJ, van den Elzen, C, Halliday, W, Riemersma, M, Stemple, DL, Wright, GJ, Lin, YY, Buysse, K, Roscioli, T

Hum Mol Genet 2013
25279697 B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan

Ramiah, A, Moremen, KW, Chinoy, ZS, Boons, GJ, Wells, L, Praissman, JL, Live, DH, Wang, S

Elife 2014
25279699 The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

Inamori, K, Willer, T, Wright, KM, Beltrán Valero de Bernabé, D, Morgensen, G, Yu, L, Hara, Y, Harvey, C, Campbell, KP, Venzke, D

Elife 2014
Participants
Participates
Catalyst Activity

glucuronosyltransferase activity of B4GAT1:LARGE [Golgi membrane]

Orthologous Events
Cross References
RHEA
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