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Standards Ontologies Notations
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)
Displaying 1 entry
GO Term
protein O-linked mannosylation
Displaying all 4 entries
GO Term
nucleoplasm
Golgi membrane
Golgi apparatus
plasma membrane
Annotation information from UniProt.
Sequence
MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQSTLESEEWNPWEGDEKNEQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGLLDPSDVTAQWREGKSIVGRTQYSFITGPAVIPGYFSVDVNNVVLILNGREKAKIFYATQWLLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRNGGFVELLFIIYDSPWINDVDVFQWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENSSRQALMNILKKDGNDKLCWVSAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSIPVVEDVMTAGNCGNTSVHHGAPLQLLKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQHFKTELKMKFTNILESSFLMNNKS
  • N : N-glycosylation Site
  • ___ : Potential Sequon
Glycosylation Sites
Displaying all 4 entries
Position Description PubMed ID GlyTouCan ID Source
83
91
92
312
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Disease
Displaying entries 1 - 10 of 85 in total
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
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024