Mannose-P-dolichol utilization defect 1 protein

Summary
UniProt ID
O75352
Gene Symbol
  • MPDU1
Organism
Homo sapiens (human)
External Links
GlyGen
O75352
PubChem
O75352
The O-GlcNAc Database
O75352
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Disease variant
  • Reference proteome
  • Repeat
  • Transmembrane helix
  • Transport
Gene Ontology (GO)
Sequence
MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQASNVPAVVVGRLLQAATNYHNGHTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFVVSSLCNGLIAAQLLFYWNAKPPHKQKKAQ
Glycosylation Sites
Displaying 1 entry
Position Description PubMed ID GlyTouCan ID Source
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Disease
Displaying entries 1 - 10 of 35 in total
DO ID Disease Name Source
DOID:9870 galactosemia
DOID:0050328 congenital hypothyroidism
DOID:0050570 congenital disorder of glycosylation type I
DOID:0060656 autosomal recessive congenital ichthyosis 1
DOID:0080556 congenital disorder of glycosylation Id
DOID:0080558 congenital disorder of glycosylation If
DOID:0080568 congenital disorder of glycosylation Iq
DOID:10907 microcephaly
DOID:11634 myxedema
DOID:11771 spontaneous ocular nystagmus

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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