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MPI R219Q [cytosol]
Stable Identifier
R-HSA-3781848
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
MPI, Mannose-6-phosphate isomerase, MPI_HUMAN
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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 MPI causes MPI-CDG (Homo sapiens)
Defective MPI does not isomerize Fru6P to Man6P (Homo sapiens)
MPI mutants [cytosol] (Homo sapiens)
MPI R219Q [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:P34949 MPI
Gene Names
MPI, PMI1
Chain
initiator methionine:, chain:2-423
Reference Genes
COSMIC (genes):MPI P349492
dbSNP Gene:4351 P349492
ENSEMBL:ENSG00000178802 MPI
Participates
as a member of
MPI mutants [cytosol] (Homo sapiens)
Other forms of this molecule
MPI A38Gfs*26 [cytosol]
MPI M138T [cytosol]
MPI S102L [cytosol]
MPI R295H [cytosol]
MPI [cytosol]
Modified Residues
Name
L-arginine 219 replaced with L-glutamine
Coordinate
219
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
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