protein-O-mannosyltransferase 1

Summary
Gene Symbol
  • Pomt1
Organism
Mus musculus (house mouse)
External Links
NCBI Gene
99011
KEGG Gene ID
mmu:99011
PubChem
99011
Alliance of Genome Resources
Annotation
Keyword
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Reference proteome
  • Repeat
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8R2R1
  • Dolichyl-phosphate-mannose--protein mannosyltransferase 1
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K00728
Name
dolichyl-phosphate-mannose-protein mannosyltransferase [EC:2.4.1.109]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R07620
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050560 Walker-Warburg syndrome
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050700 cardiomyopathy
DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K
DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1
DOID:0112374 muscular dystrophy-dystroglycanopathy
DOID:9296 cleft lip
DOID:9884 muscular dystrophy

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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