B4GALNT1 dimer transfers GalNAc to gangliosides

Stable Identifier
Reaction [transition]
Homo sapiens
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Gangliosides are part of the family of glycosphingolipids and are components of the synaptic plasma membrane involved in synaptic plasticity, signal transduction, and endocytosis, processes for CNS development. Complex gangliosides (G) can be mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations in the ER and Golgi. Beta-1,4 N-acetylgalactosaminyltransferase 1 (B4GALNT1), a homodimeric protein (Li et al. 2000) residing on the Golgi membrane, catalyses the transfer of N-acetyl-galactosamine (GalNAc) to gangliosides GM3, GD3, GT3, SM3, and LacCer by a beta-1,4 linkage to produce GM2, GD2, GT2, SM2, and GA2 (Nagata et al., 1992; Yamashiro et al., 1995; reviewed in Sandhoff & Sandhoff, 2018). Defects in B4GALNT1 can cause spastic paraplegia 26 (SPG26, MIM:609195), a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs (Boukhris et al., 2013).

Literature References
PubMed ID Title Journal Year
29802621 Emerging concepts of ganglioside metabolism

Sandhoff, R, Sandhoff, K

FEBS Lett 2018
23746551 Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Cruz, VT, Dion, P, Gaussen, M, Dionne-Laporte, A, Rekik, I, Durr, A, Marques, W, Schüle, R, Darios, F, Mochel, F, Caballero-Oteyza, A, Speziani, F, Rouleau, GA, Ferbert, A, Pouget, J, Schöls, L, Mundwiller, E, Acosta Lebrigio, RF, Boukhris, A, Feki, I, Gauthier, J, Forlani, S, Mhiri, C, Brice, A, Zuchner, S, Stevanin, G, Coutinho, P, Gonzalez, MA, Loureiro, JL, Noreau, A, Lourenço, CM, Charles, P, Amri, M

Am. J. Hum. Genet. 2013
11018043 Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains

Cai, J, Macher, BA, Joshi, RK, Darling, DS, Pierce, WM, Jaskiewicz, E, Allende, ML, Young, WW, Yen, TY, Li, J

J. Biol. Chem. 2000
1601877 Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides

Yodoi, J, Yamashiro, S, Shiku, H, Nagata, Y, Furukawa, K, Lloyd, KO

J. Biol. Chem. 1992
7890749 Substrate specificity of beta 1,4-N-acetylgalactosaminyltransferase in vitro and in cDNA-transfected cells. GM2/GD2 synthase efficiently generates asialo-GM2 in certain cells

Haraguchi, M, Yamamoto, A, Takamiya, K, Yamashiro, S, Shiku, H, Nagata, Y, Lloyd, KO, Furukawa, K, Furukawa, K

J Biol Chem 1995
Catalyst Activity

(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity of B4GALNT1 dimer [Golgi membrane]

Orthologous Events
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