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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
- G: Carbohydrate transport and metabolism
- 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:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000133 | Gonadal dysgenesis |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000358 | Posteriorly rotated ears |
| 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 |
|---|---|---|---|
| 10329 | Xenbase:XB-GENE-1009102 | ||
| 216395 | Xenbase:XB-GENE-1009102 | MOUSE00578 | |
| 299841 | Xenbase:XB-GENE-1009102 | RATNO38341 | |
| 446820 | Xenbase:XB-GENE-1009102 | ||
| 452041 | PANTR05389 | ||
| 515147 | BOVIN29508 | ||
| 557187 | Xenbase:XB-GENE-1009102 | DANRE14698 | |
| 717102 | MACMU04157 | ||
| 100056566 | HORSE36604 | ||
| 100145540 | Xenbase:XB-GENE-1009102 |
