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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9Y2B1 | - |
- |
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 | Comment | Organism |
---|---|---|
ribitol-5-phosphate xylosyltransferase 1 | - |
Homo sapiens |
RXYLT1 | - |
Homo sapiens |
TMEM5 | - |
Homo sapiens |
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 |