B4GALNT1 dimer transfers GalNAc from UDP-GalNAc to GM3 and GD3 gangliosides

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
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

Gangliosides are part of the larger 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) into GM3, GD3 (and globotriaosylceramide, not shown here) by a beta-1,4 linkage (Nagata et al. 1992). Defects in B4GALNT1 can cause spastic paraplegia 26 (SPG26), a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs (Boukhris et al. 2013).

Literature References
PubMed ID Title Journal Year
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
Catalyst Activity

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

Orthologous Events
Cite Us!