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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:0000612 | Iris coloboma |
| HP:0000648 | Optic atrophy |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001284 | Areflexia |
| HP:0001302 | Pachygyria |
| 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 |
|---|---|---|---|
| 100933243 | SARHA03824 | ||
| 100966708 | OTOGA04626 | ||
| 100992813 | PANPA08923 | ||
| 101051694 | SAIBB11037 | ||
| 101064249 | TAKRU50047 | ||
| 101101235 | FELCA16344 | ||
| 101112124 | SHEEP14485 | ||
| 101133488 | GORGO04787 | ||
| 101158942 | ORYLA15347 | ||
| 101326299 | TURTR11095 |
