Enzymes
| UniProtKB help_outline | 3 proteins |
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Namehelp_outline
3-O-[Rib-ol-P-Rib-ol-P-3-β-D-GalNAc-(1→3)-β-D-GlcNAc-(1→4)-(O-6-P-α-D-Man)]-Thr-[protein]
Identifier
RHEA-COMP:15021
Reactive part
help_outline
- Name help_outline 3-O-[(D-ribitylphospho)2-3-N-acetyl-β-D-galactosaminyl-(1→3)-N-acetyl-β-D-glucosaminyl-(1→4)-O-6-phospho-α-D-mannosyl]-L-threonine residue Identifier CHEBI:142403 Charge -4 Formula C36H62N3O34P3 SMILEShelp_outline O([C@@H]1[C@H]([C@H]([C@@H]([C@H](O1)COP([O-])([O-])=O)O[C@H]2[C@@H]([C@H]([C@@H]([C@H](O2)CO)O)O[C@H]3[C@@H]([C@H]([C@H]([C@H](O3)CO)O)OP(OC[C@H]([C@H]([C@H](COP(OC[C@H]([C@H]([C@H](CO)O)O)O)([O-])=O)O)O)O)([O-])=O)NC(C)=O)NC(C)=O)O)O)[C@@H]([C@@H](C(*)=O)N*)C 2D coordinates Mol file for the small molecule Search links Involved in 2 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
- Name help_outline UDP-α-D-xylose Identifier CHEBI:57632 Charge -2 Formula C14H20N2O16P2 InChIKeyhelp_outline DQQDLYVHOTZLOR-OCIMBMBZSA-L SMILEShelp_outline O[C@@H]1CO[C@H](OP([O-])(=O)OP([O-])(=O)OC[C@H]2O[C@H]([C@H](O)[C@@H]2O)n2ccc(=O)[nH]c2=O)[C@H](O)[C@H]1O 2D coordinates Mol file for the small molecule Search links Involved in 25 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
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Namehelp_outline
3-O-[β-D-Xyl-(1→4)-Rib-ol-P-Rib-ol-P-3-β-D-GalNAc-(1→3)-β-D-GlcNAc-(1→4)-(O-6-P-α-D-Man)]-Thr-[protein]
Identifier
RHEA-COMP:15023
Reactive part
help_outline
- Name help_outline 3-O-[β-D-xylosyl-(1→4)-(D-ribitylphospho)2-3-N-acetyl-β-D-galactosaminyl-(1→3)-N-acetyl-β-D-glucosaminyl-(1→4)-O-6-phospho-α-D-mannosyl]-L-threonine residue Identifier CHEBI:142405 Charge -4 Formula C41H70N3O38P3 SMILEShelp_outline O([C@@H]1[C@H]([C@H]([C@@H]([C@H](O1)COP([O-])([O-])=O)O[C@H]2[C@@H]([C@H]([C@@H]([C@H](O2)CO)O)O[C@H]3[C@@H]([C@H]([C@H]([C@H](O3)CO)O)OP(OC[C@H]([C@H]([C@H](COP(OC[C@H]([C@H]([C@H](CO)O)O)O[C@H]4[C@@H]([C@H]([C@@H](CO4)O)O)O)([O-])=O)O)O)O)([O-])=O)NC(C)=O)NC(C)=O)O)O)[C@@H]([C@@H](C(*)=O)N*)C 2D coordinates Mol file for the small molecule Search links Involved in 2 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
- Name help_outline H+ Identifier CHEBI:15378 Charge 1 Formula H InChIKeyhelp_outline GPRLSGONYQIRFK-UHFFFAOYSA-N SMILEShelp_outline [H+] 2D coordinates Mol file for the small molecule Search links Involved in 9,431 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
- Name help_outline UDP Identifier CHEBI:58223 Charge -3 Formula C9H11N2O12P2 InChIKeyhelp_outline XCCTYIAWTASOJW-XVFCMESISA-K SMILEShelp_outline O[C@@H]1[C@@H](COP([O-])(=O)OP([O-])([O-])=O)O[C@H]([C@@H]1O)n1ccc(=O)[nH]c1=O 2D coordinates Mol file for the small molecule Search links Involved in 576 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
Cross-references
| RHEA:57880 | RHEA:57881 | RHEA:57882 | RHEA:57883 | |
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| Reaction direction help_outline | undefined | left-to-right | right-to-left | bidirectional |
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Publications
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The muscular dystrophy gene TMEM5 encodes a ribitol beta1,4-xylosyltran sferase required for the functional glycosylation of dystroglycan.
Manya H., Yamaguchi Y., Kanagawa M., Kobayashi K., Tajiri M., Akasaka-Manya K., Kawakami H., Mizuno M., Wada Y., Toda T., Endo T.
A defect in O-mannosyl glycan is the cause of α-dystroglycanopathy, a group of congenital muscular dystrophies caused by aberrant α-dystroglycan (α-DG) glycosylation. Recently, the entire structure of O-mannosyl glycan, [3GlcAβ1-3Xylα1]<sub>n</sub>-3GlcAβ1-4Xyl-Rbo5P-1Rbo5P-3GalNAcβ1-3GlcNAcβ1-4 ( ... >> More
A defect in O-mannosyl glycan is the cause of α-dystroglycanopathy, a group of congenital muscular dystrophies caused by aberrant α-dystroglycan (α-DG) glycosylation. Recently, the entire structure of O-mannosyl glycan, [3GlcAβ1-3Xylα1]<sub>n</sub>-3GlcAβ1-4Xyl-Rbo5P-1Rbo5P-3GalNAcβ1-3GlcNAcβ1-4 (phospho-6)Manα1-, which is required for the binding of α-DG to extracellular matrix ligands, has been proposed. However, the linkage of the first Xyl residue to ribitol 5-phosphate (Rbo5P) is not clear. TMEM5 is a gene product responsible for α-dystroglycanopathy and was reported as a potential enzyme involved in this linkage formation, although the experimental evidence is still incomplete. Here, we report that TMEM5 is a xylosyltransferase that forms the Xylβ1-4Rbo5P linkage on O-mannosyl glycan. The anomeric configuration and linkage position of the product (β1,4 linkage) was determined by NMR analysis. The introduction of two missense mutations in TMEM5 found in α-dystroglycanopathy patients impaired xylosyltransferase activity. Furthermore, the disruption of the TMEM5 gene by CRISPR/Cas9 abrogated the elongation of the (-3GlcAβ1-3Xylα1-) unit on O-mannosyl glycan. Based on these results, we concluded that TMEM5 acts as a UDP-d-xylose:ribitol-5-phosphate β1,4-xylosyltransferase in the biosynthetic pathway of O-mannosyl glycan. << Less
J. Biol. Chem. 291:24618-24627(2016) [PubMed] [EuropePMC]
This publication is cited by 1 other entry.