Literature summary for 2.4.2.61 extracted from

Manya, H.; Yamaguchi, Y.; Kanagawa, M.; Kobayashi, K.; Tajiri, M.; Akasaka-Manya, K.; Kawakami, H.; Mizuno, M.; Wada, Y.; Toda, T.; Endo, T.
The muscular dystrophy gene TMEM5 encodes a ribitol beta1,4-xlosyltransferase required for the functional glycosylation of dystroglycan (2016), J. Biol. Chem., 291, 24618-24627 .

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Protein Variants

Protein Variants	Comment	Organism
R340L	missense mutation found in an alpha-dystroglycanopathy patient, impairs xylosyltransferase activity	Homo sapiens
Y339C	missense mutation found in an alpha-dystroglycanopathy patient, impairs xylosyltransferase activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y2B1	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
UDP-alpha-D-xylose + 3-O-[Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1,3)-beta-D-GlcNAc-(1,4)-O-6-P-alpha-D-Man]-Ser/Thr-[protein]	-	Homo sapiens	UDP + 3-O-[beta-D-Xyl-(1,4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1,3)-beta-D-GlcNAc-(1,4)-O-6-P-alpha-D-Man]-Ser/Thr-[protein]	-	?

Synonyms

Synonyms	Comment	Organism
ribitol-5-phosphate xylosyltransferase 1	-	Homo sapiens
RXYLT1	-	Homo sapiens
TMEM5	-	Homo sapiens

General Information

General Information	Comment	Organism
physiological function	TMEM5 is a xylosyltransferase that forms the Xyl-beta-1,4-ribitol 5-phosphate linkage on O-mannosyl glycan. Disruption of the TMEM5 gene abrogates the elongation of the (3-GlcA-beta-1,3-Xyl-alpha-1-) unit on O-mannosyl glycan	Homo sapiens

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Release 2023.1 (January 2023)