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MIRAGE
ribitol xylosyltransferase 1
Summary
- Gene Symbol
-
- RXYLT1
- Aliases
-
- HP10481
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Congenital muscular dystrophy
- Disease variant
- Dystroglycanopathy
- Golgi apparatus
- Lissencephaly
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9Y2B1 |
|
Gene Ontology (GO)
| 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 Hierarchy
| 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 |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Ribitol-5-phosphate xylosyltransferase 1
- Functional Category
-
- E: Amino acid transport and metabolism
- K: Transcription
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| protein O-linked mannosylation |
| ribitol beta-1,4-xylosyltransferase activity |
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111239 | congenital muscular dystrophy-dystroglycanopathy type A10 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002334 | Abnormal cerebellar vermis morphology |
| HP:0002536 | Abnormal cortical gyration |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003560 | Muscular dystrophy |
| HP:0003577 | Congenital onset |
| HP:0007033 | Cerebellar dysplasia |
| HP:0007260 | Type II lissencephaly |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0007957 | Corneal opacity |
| HP:0007973 | Retinal dysplasia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:899 |
|
| OMIM:615041 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101582571 | OCTDE09583 | ||
| 101692107 | MUSPF07297 | ||
| 101945589 | CHRPI16041 | ||
| 101971613 | ICTTR13330 | ||
| 102188924 | CAPHI24748 | ||
| 102347491 | LATCH18637 | ||
| 103039815 | ASTMX07211 | ||
| 103238633 | CHLSB02390 | ||
| 105301072 | PTEVA02016 | ||
| 105474028 | MACNE23894 |
