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MOGS F652L [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4839779
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Mannosyl-oligosaccharide glucosidase, MOGS_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective MOGS causes CDG-2b (Homo sapiens)
Defective MOGS does not cleave glucose from an N-glycosylated protein (Homo sapiens)
MOGS mutants [endoplasmic reticulum membrane] (Homo sapiens)
MOGS F652L [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q13724 MOGS
Gene Names
MOGS, GCS1
Chain
chain:1-837
Reference Genes
BioGPS Gene:7841 MOGS
COSMIC (genes):MOGS MOGS
CTD Gene:7841 MOGS
dbSNP Gene:7841 MOGS
ENSEMBL:ENSG00000115275 MOGS
HGNC:24862 MOGS
KEGG:hsa:7841 MOGS
Monarch:7841 MOGS
NCBI Gene:7841 MOGS
OMIM:601336 MOGS
UCSC:Q13724 MOGS
Reference Transcript
RefSeq:NM_001146158.1 MOGS
RefSeq:NM_006302.2 MOGS
Other Identifiers
11717954_s_at
11747419_a_at
16899248
210627_PM_s_at
210627_s_at
2492218
2560123
2560124
2560125
2560126
2560127
2560128
2560129
2560130
2560131
2560132
2560133
2560134
2560135
2560136
2560137
2560138
2560139
2560140
2563484
38464_at
7841
8053158
A_23_P108662
A_24_P414045
GE60113
GO:0003824
GO:0004573
GO:0005783
GO:0005789
GO:0005975
GO:0006457
GO:0006486
GO:0006487
GO:0009311
GO:0015926
GO:0016020
GO:0016787
GO:0016798
GO:0019082
GO:0043226
GO:0070062
HMNXSV003057282
ILMN_1727642
PH_hs_0004782
TC02001997.hg
X87237_at
g12803914_3p_a_at
Participates
as a member of
MOGS mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
MOGS R486T [endoplasmic reticulum membrane]
MOGS [endoplasmic reticulum membrane]
Modified Residues
Name
L-phenylalanine 652 replaced with L-leucine
Coordinate
652
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-phenylalanine removal [MOD:01644]
A protein modification that effectively removes or replaces an L-phenylalanine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type II
DOID:0050571
Cross References
RefSeq
NP_006293.2
,
NP_001139630.1
ENSEMBL
ENST00000448666
,
ENST00000452063
,
ENSP00000388201
,
ENSP00000410992
OpenTargets
ENSG00000115275
HPA
ENSG00000115275-MOGS
PRO
Q13724
Pharos - Targets
Q13724
GlyGen
Q13724
Orphanet
MOGS
HMDB Protein
HMDBP11831
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P27824 CANX
2
CANX [endoplasmic reticulum lumen]
(R-HSA-195906)
CANX [lumenal side of endoplasmic reticulum membrane]
(R-HSA-983091)
0.527
2
UniProt:P0DTD1-PRO_0000449625 REP
0.527
2
UniProt:Q5S007 LRRK2
1
LRRK2 [cytosol]
(R-HSA-5661173)
0.527
3
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