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MPI S102L [cytosol]
Stable Identifier
R-HSA-3781889
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
MPI, Mannose-6-phosphate isomerase, MPI_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
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 S102L [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:P34949 MPI
Gene Names
MPI, PMI1
Chain
initiator methionine:, chain:2-423
Reference Genes
BioGPS Gene:4351 P349492
COSMIC (genes):MPI MPI
CTD Gene:4351 P349492
dbSNP Gene:4351 P349492
ENSEMBL:ENSG00000178802 MPI
HGNC:7216 P349492
KEGG:hsa:4351 P349492
Monarch:4351 P349492
NCBI Gene:4351 P349492
OMIM:154550 P349492
UCSC:P34949 P349492
Reference Transcript
RefSeq:NM_001289156.1 P349492
RefSeq:NM_001289157.1 P349492
RefSeq:NM_002435.2 P349492
Participates
as a member of
MPI mutants [cytosol] (Homo sapiens)
Other forms of this molecule
MPI A38Gfs*26 [cytosol]
MPI M138T [cytosol]
MPI R295H [cytosol]
MPI R219Q [cytosol]
MPI [cytosol]
Modified Residues
Name
L-serine 102 replaced with L-leucine
Coordinate
102
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
ENSEMBL
ENST00000323744
,
ENSP00000318192
,
ENSP00000318318
,
ENST00000352410
,
ENSG00000178802
OpenTargets
ENSG00000178802
ZINC - Substances
MPI_HUMAN
ZINC target
P34949
PRO
P34949
GlyGen
P34949
IntEnz
5.3.1.8
GeneCards
MPI
HPA
ENSG00000178802-MPI
Pharos - Targets
P34949
Orphanet
MPI
ZINC - Predictions - Purchasable
MPI_HUMAN
HMDB Protein
HMDBP00797
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