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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 |
|---|
| nucleoplasm |
| Golgi membrane |
| Golgi apparatus |
| plasma membrane |
| GO Term |
|---|
| ribitol beta-1,4-xylosyltransferase activity |
Sequence
MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQSTLESEEWNPWEGDEKNEQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGLLDPSDVTAQWREGKSIVGRTQYSFITGPAVIPGYFSVDVNNVVLILNGREKAKIFYATQWLLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRNGGFVELLFIIYDSPWINDVDVFQWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENSSRQALMNILKKDGNDKLCWVSAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSIPVVEDVMTAGNCGNTSVHHGAPLQLLKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQHFKTELKMKFTNILESSFLMNNKS
Glycosylation Sites
G57321FI
G83460ZZ
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
| DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
| DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
| DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O |
