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DPM1 Q210Rfs*4 [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4717361
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
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 DPM1 causes DPM1-CDG (Homo sapiens)
Defective DPM1 does not transfer mannose to DOLP to form DOLPman (Homo sapiens)
DPM1 mutants:DPM2:DPM3 [endoplasmic reticulum membrane] (Homo sapiens)
DPM1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
DPM1 Q210Rfs*4 [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O60762 DPM1
Gene Names
DPM1
Chain
initiator methionine:1, chain:2-260
Reference Genes
BioGPS Gene:8813 DPM1
COSMIC (genes):DPM1 DPM1
CTD Gene:8813 DPM1
dbSNP Gene:8813 DPM1
ENSEMBL:ENSG00000000419.14 DPM1
HGNC:3005 DPM1
KEGG Gene (Homo sapiens):8813 DPM1
Monarch:8813 DPM1
NCBI Gene:8813 DPM1
OMIM:603503 DPM1
UCSC:O60762 DPM1
Reference Transcript
RefSeq:NM_001317035.1 DPM1
RefSeq:NM_001317034.1 DPM1
RefSeq:NM_001317036.1 DPM1
RefSeq:NM_003859.2 DPM1
Other Identifiers
0005340139
11754523_a_at
16920287
202673_PM_at
202673_at
34879_at
3909396
3909397
3909398
3909399
3909400
3909403
3909404
3909409
3909412
3909416
3909418
3909419
3909424
3909427
8067017
8813
AF007875_at
GE56109
GO:0004169
GO:0004582
GO:0005515
GO:0005537
GO:0005622
GO:0005634
GO:0005737
GO:0005783
GO:0005789
GO:0006486
GO:0006506
GO:0006629
GO:0016020
GO:0016740
GO:0016757
GO:0018279
GO:0019348
GO:0019673
GO:0032991
GO:0033185
GO:0035268
GO:0035269
GO:0036211
GO:0043178
GO:0043226
GO:0043231
GO:0055086
GO:0097502
GO:0140096
GO:1901135
ILMN_1658992
ILMN_2105308
PH_hs_0000522
TC20000940.hg
g4503362_3p_at
Participates
as a member of
DPM1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
DPM1 R92G [endoplasmic reticulum membrane]
DPM1 G111Lfs*45 [endoplasmic reticulum membrane]
DPM1 [endoplasmic reticulum membrane]
Modified Residues
Name
Replacement of residues 210 to 212 by RWR
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
RefSeq
NP_001303965.1
,
NP_001303963.1
,
NP_001303964.1
,
NP_003850.1
OpenTargets
ENSG00000000419
GeneCards
O60762
HPA
ENSG00000000419-DPM1
Ensembl
ENST00000371588
,
ENSP00000360644
,
ENSG00000000419
PRO
O60762
Pharos - Targets
O60762
Orphanet
15886
HMDB Protein
HMDBP00384
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q13418 ILK
1
ILK [cytosol]
(R-HSA-432864)
0.669
3
UniProt:P01106 MYC
2
MYC [nucleoplasm]
(R-HSA-188379)
PolyUb-MYC [nucleoplasm]
(R-HSA-6783169)
0.527
2
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