Reactome | FKTN transfers RboP to GalNAc-GlcNAc-ManP-DAG1

FKTN transfers RboP to GalNAc-GlcNAc-ManP-DAG1

Stable Identifier

R-HSA-9940735

Type

Reaction [transition]

Species

Homo sapiens

Compartment

Golgi lumen, Golgi membrane

ReviewStatus

5/5

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FKTN transfers RboP to GalNAc-GlcNAc-ManP-DAG1

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The ribitol-5-phosphate transferase FKTN subunit of the FKRP:FKTN:RXYLT1 complex transfers ribitol-5-phosphate (RboP) from CDP-ribitol to the terminal N-acetylgalactosamine (GalNAc) moiety of the core M3 trisaccharide linker glycan present as O-mannosyl modifications in alpha-dystroglycan (DAG1) (Kanagawa et al., 2016; Nishihara et al., 2018). Mutations in FKTN can cause muscular dystrophy-dystroglycanopathies of varying severity (MDDGA4, MIM:253800, Kondo-Iida et al., 1999; MDDGB4, MIM:613152, Beltran-Valero de Bernabe et al., 2003; MDDGC4, MIM:611588, Godfrey et al., 2006).

Binding of FKTN to POMGNT1 (which itself binds to the trisaccharide linker) is a prerequisite for the formation of the FKRP:FKTN:RXYLT1 complex (Xiong et al., 2006; Kuwabara et al., 2016). Mutations in POMGNT1 can cause muscular dystrophy-dystroglycanopathies of varying severity (MDDGA3, MIM:253280, Yoshida et al., 2001; MDDGB3, MIM:613151, Biancheri et al., 2006; MDDGC3, MIM:613157, Clement et al., 2008).

Literature References

PubMed ID	Title	Journal	Year
10545611	Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD) Kondo-Iida, E, Kobayashi, K, Watanabe, M, Sasaki, J, Kumagai, T, Koide, H, Saito, K, Osawa, M, Nakamura, Y, Toda, T	Hum Mol Genet	1999
17044012	Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy Godfrey, C, Escolar, D, Brockington, M, Clement, EM, Mein, R, Jimenez-Mallebrera, C, Torelli, S, Feng, L, Brown, SC, Sewry, CA, Rutherford, M, Shapira, Y, Abbs, S, Muntoni, F	Ann Neurol	2006
27493216	Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan Kuwabara, N, Manya, H, Yamada, T, Tateno, H, Kanagawa, M, Kobayashi, K, Akasaka-Manya, K, Hirose, Y, Mizuno, M, Ikeguchi, M, Toda, T, Hirabayashi, J, Senda, T, Endo, T, Kato, R	Proc Natl Acad Sci U S A	2016
17034757	Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan Xiong, H, Kobayashi, K, Tachikawa, M, Manya, H, Takeda, S, Chiyonobu, T, Fujikake, N, Wang, F, Nishimoto, A, Morris, GE, Nagai, Y, Kanagawa, M, Endo, T, Toda, T	Biochem Biophys Res Commun	2006
29477842	Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5 Nishihara, R, Kobayashi, K, Imae, R, Tsumoto, H, Manya, H, Mizuno, M, Kanagawa, M, Endo, T, Toda, T	Biochem Biophys Res Commun	2018
26923585	Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy Kanagawa, M, Kobayashi, K, Tajiri, M, Manya, H, Kuga, A, Yamaguchi, Y, Akasaka-Manya, K, Furukawa, JI, Mizuno, M, Kawakami, H, Shinohara, Y, Wada, Y, Endo, T, Toda, T	Cell Rep	2016
17030669	POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum Biancheri, R, Bertini, E, Falace, A, Pedemonte, M, Rossi, A, D'Amico, A, Scapolan, S, Bergamino, L, Petrini, S, Cassandrini, D, Broda, P, Manfredi, M, Zara, F, Santorelli, FM, Minetti, C, Bruno, C	Arch Neurol	2006
18195152	Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant Clement, EM, Godfrey, C, Tan, J, Brockington, M, Torelli, S, Feng, L, Brown, SC, Jimenez-Mallebrera, C, Sewry, CA, Longman, C, Mein, R, Abbs, S, Vajsar, J, Schachter, H, Muntoni, F	Arch Neurol	2008
11709191	Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 Yoshida, A, Kobayashi, K, Manya, H, Taniguchi, K, Kano, H, Mizuno, M, Inazu, T, Mitsuhashi, H, Takahashi, S, Takeuchi, M, Herrmann, R, Straub, V, Talim, B, Voit, T, Topaloglu, H, Toda, T, Endo, T	Dev. Cell	2001
14627679	A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype de Bernabé, DB, van Bokhoven, H, van Beusekom, E, Van den Akker, W, Kant, S, Dobyns, WB, Cormand, B, Currier, S, Hamel, B, Talim, B, Topaloglu, H, Brunner, HG	J Med Genet	2003