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Literature summary 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 .
    View publication on PubMedView publication on EuropePMC

Protein Variants

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

Organism

EC Number Organism UniProt Comment Textmining
2.4.2.61 Homo sapiens Q9Y2B1
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Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.2.61 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]
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 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]
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 ?

Synonyms

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

General Information

EC Number General Information Comment Organism
2.4.2.61 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