Reactome | B4GALNT1 dimer transfers GalNAc to gangliosides

B4GALNT1 dimer transfers GalNAc to gangliosides

Stable Identifier

R-HSA-8856223

Type

Reaction [transition]

Species

Homo sapiens

Compartment

Golgi membrane, Golgi lumen

ReviewStatus

5/5

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B4GALNT1 dimer transfers GalNAc to gangliosides

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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 Boukhris, A, Schüle, R, Loureiro, JL, Lourenço, CM, Mundwiller, E, Gonzalez, MA, Charles, P, Gauthier, J, Rekik, I, Acosta Lebrigio, RF, Gaussen, M, Speziani, F, Ferbert, A, Feki, I, Caballero-Oteyza, A, Dionne-Laporte, A, Amri, M, Noreau, A, Forlani, S, Cruz, VT, Mochel, F, Coutinho, P, Dion, P, Mhiri, C, Schöls, L, Pouget, J, Darios, F, Rouleau, GA, Marques, W, Brice, A, Durr, A, Zuchner, S, Stevanin, G	Am. J. Hum. Genet.	2013
11018043	Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains Li, J, Yen, TY, Allende, ML, Joshi, RK, Cai, J, Pierce, WM, Jaskiewicz, E, Darling, DS, Macher, BA, Young, WW	J. Biol. Chem.	2000
1601877	Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides Nagata, Y, Yamashiro, S, Yodoi, J, Lloyd, KO, Shiku, H, Furukawa, K	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 Yamashiro, S, Haraguchi, M, Furukawa, K, Furukawa, K, Takamiya, K, Yamamoto, A, Nagata, Y, Lloyd, KO, Shiku, H	J Biol Chem	1995