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DPM3 L85S [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4719357
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
dolichyl-phosphate mannosyltransferase polypeptide 3
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Locations in the PathwayBrowser
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective DPM3 causes DPM3-CDG (Homo sapiens)
Defective DPM3 does not transfer mannose to DOLP to form DOLPman (Homo sapiens)
DPM1:DPM2:DPM3 L85S [endoplasmic reticulum membrane] (Homo sapiens)
DPM3 L85S [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9P2X0 DPM3
Gene Names
DPM3
Chain
chain:1-92
Reference Genes
COSMIC (genes):DPM3 DPM3
dbSNP Gene:54344 DPM3
ENSEMBL:ENSG00000179085 DPM3
Participates
as a component of
DPM1:DPM2:DPM3 L85S [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
DPM3 [endoplasmic reticulum membrane]
Modified Residues
Name
L-leucine 85 replaced with L-serine
Coordinate
85
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
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