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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Ribitol-5-phosphate xylosyltransferase 1
Summary
- UniProt ID
- Q9Y2B1
- Gene Symbol
-
- RXYLT1
- TMEM5
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0012690
- GlyGen
- Q9Y2B1
- PubChem
- Q9Y2B1
Annotation
- Keyword
-
- Congenital muscular dystrophy
- Disease variant
- Dystroglycanopathy
- Golgi apparatus
- Lissencephaly
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| protein O-linked mannosylation |
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| plasma membrane |
| nucleoplasm |
| GO Term |
|---|
| ribitol beta-1,4-xylosyltransferase activity |
Sequence
MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQSTLESEEWNPWEGDEKNEQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGLLDPSDVTAQWREGKSIVGRTQYSFITGPAVIPGYFSVDVNNVVLILNGREKAKIFYATQWLLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRNGGFVELLFIIYDSPWINDVDVFQWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENSSRQALMNILKKDGNDKLCWVSAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSIPVVEDVMTAGNCGNTSVHHGAPLQLLKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQHFKTELKMKFTNILESSFLMNNKS
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 312 |
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:14447 | gonadal dysgenesis | |
| DOID:14524 | senile degeneration of brain | |
| DOID:1573 | communicating hydrocephalus | |
| DOID:1686 | glaucoma | |
| DOID:1826 | epilepsy | |
| DOID:2785 | Dandy-Walker syndrome | |
| DOID:3491 | Turner syndrome | |
| DOID:4626 | hydranencephaly | |
| DOID:5212 | congenital disorder of glycosylation | |
| DOID:5327 | retinal detachment |
