ribitol xylosyltransferase 1
| UniProt | Protein Name |
|---|---|
| Q9Y2B1 |
|
| A0A8I5KWX9 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein O-linked mannosylation | ||
| protein O-linked mannosylation | ||
| protein O-linked mannosylation |
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi membrane | ||
| nucleoplasm | ||
| Golgi apparatus | ||
| Golgi apparatus | ||
| plasma membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| ribitol beta-1,4-xylosyltransferase activity | ||
| ribitol beta-1,4-xylosyltransferase activity | ||
| ribitol beta-1,4-xylosyltransferase activity |
| Gene Ontology |
|---|
| protein O-linked mannosylation |
| ribitol beta-1,4-xylosyltransferase activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111239 | congenital muscular dystrophy-dystroglycanopathy type A10 |
| HPO ID | HPO Term |
|---|---|
| HP:0001305 | Dandy-Walker malformation |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001324 | Muscle weakness |
| HP:0001328 | Specific learning disability |
| HP:0001331 | Absent septum pellucidum |
| HP:0001339 | Lissencephaly |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
| HP:0002119 | Ventriculomegaly |
| HP:0002126 | Polymicrogyria |
| HP:0002269 | Abnormality of neuronal migration |
| Disease ID | Disease Name |
|---|---|
| OMIM:615041 |
|
| ORPHA:899 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026