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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:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
| DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
| DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
| DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
| DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N | |
| DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I | |
| DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
| DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
| DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C |
