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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| plasma membrane | ||
| Golgi apparatus | ||
| Golgi membrane | ||
| nucleoplasm |
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0050557 | congenital muscular dystrophy | |
| DOID:0050559 | Fukuyama congenital muscular dystrophy | |
| DOID:0050560 | Walker-Warburg syndrome | |
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0060270 | pontocerebellar hypoplasia type 2D | |
| DOID:0060276 | pontocerebellar hypoplasia type 7 | |
| DOID:0060277 | pontocerebellar hypoplasia type 8 |
- 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 |
|---|---|---|---|
| 102347491 | LATCH18637 | ||
| 557187 | ZFIN:ZDB-GENE-060929-1018 | DANRE14698 | |
| 103039815 | ASTMX07211 | ||
| 108264772 | ICTPU27987 | ||
| 124627936 | ICTPU27987 | ||
| 113577197 | ELEEL18934 | ||
| 100380601 | SALSA80820 | ||
| 115152203 | SALTR113826 | ||
| 115551398 | GADMO60947 | ||
| 101158942 | ORYLA15347 |
