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MPI A38Gfs*26 [cytosol]
Stable Identifier
R-HSA-3781924
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 A38Gfs*26 [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 MPI
COSMIC (genes):MPI MPI
CTD Gene:4351 MPI
dbSNP Gene:4351 MPI
ENSEMBL:ENSG00000178802 MPI
ENSEMBL_homo_sapiens_GENE:ENSG00000178802.18 MPI
HGNC:7216 MPI
KEGG Gene (Homo sapiens):4351 MPI
Monarch:4351 MPI
NCBI Gene:4351 MPI
OMIM:154550 MPI
UCSC:P34949 MPI
Reference Transcript
RefSeq:NM_002435.2 MPI
RefSeq:NM_001289156.1 MPI
RefSeq:NM_001289157.1 MPI
Other Identifiers
11744376_a_at
11759552_at
16803103
202472_PM_at
202472_at
3601956
3601959
3601960
3601963
3601964
3601965
3601969
3601971
3601973
3601974
3601975
3601977
3601979
3601981
3601983
3601985
36673_at
4351
57208_at
7984922
A_14_P123672
A_14_P134474
A_23_P60579
GE60007
GE861479
GO:0003824
GO:0004476
GO:0005515
GO:0005576
GO:0005615
GO:0005737
GO:0005829
GO:0005975
GO:0008270
GO:0009298
GO:0016853
GO:0043226
GO:0046872
GO:0055086
GO:0061611
GO:0070062
GO:1901135
HMNXSV003030431
HMNXSV003040041
ILMN_1761262
PH_hs_0004363
TC15000687.hg
X76057_at
g4505234_3p_at
g4505234_3p_x_at
p5666
Participates
as a member of
MPI mutants [cytosol] (Homo sapiens)
Other forms of this molecule
MPI M138T [cytosol]
MPI S102L [cytosol]
MPI R295H [cytosol]
MPI R219Q [cytosol]
MPI [cytosol]
Modified Residues
Name
Replacement of residues 38 to 62 by GPDRRGQALCRVVDGDSPPRGCQDP
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
RefSeq
NP_002426.1
,
NP_001276086.1
,
NP_001276085.1
OpenTargets
ENSG00000178802
ZINC - Substances
MPI_HUMAN
ZINC target
P34949
PRO
P34949
IntEnz
5.3.1.8
GeneCards
P34949
HPA
ENSG00000178802-MPI
Ensembl
ENST00000352410
,
ENSP00000318318
,
ENSG00000178802
,
ENSP00000318192
,
ENST00000323744
Pharos - Targets
P34949
ZINC - Predictions - Purchasable
MPI_HUMAN
Orphanet
16459
HMDB Protein
HMDBP00797
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