Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
DPM3 L85S [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4719357
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
dolichyl-phosphate mannosyltransferase polypeptide 3
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 DPM3 causes DPM3-CDG (Homo sapiens)
Defective DPM3 does not transfer mannose to DOLP to form DOLPman (Homo sapiens)
DPM1:DPM2:DPM3 L85S [endoplasmic reticulum membrane] (Homo sapiens)
DPM3 L85S [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9P2X0 DPM3
Gene Names
DPM3
Chain
chain:1-92
Reference Genes
BioGPS Gene:54344 DPM3
COSMIC (genes):DPM3 DPM3
CTD Gene:54344 DPM3
dbSNP Gene:54344 DPM3
ENSEMBL:ENSG00000179085 DPM3
HGNC:3007 DPM3
KEGG Gene (Homo sapiens):54344 DPM3
Monarch:54344 DPM3
NCBI Gene:54344 DPM3
OMIM:605951 DPM3
UCSC:Q9P2X0 DPM3
Reference Transcript
RefSeq:XM_017001498.1 DPM3
RefSeq:NM_018973.3 DPM3
RefSeq:NM_153741.1 DPM3
Other Identifiers
0000070471
11722238_a_at
16693952
219373_PM_at
219373_at
2437087
2437088
2437089
2437090
2437091
2437092
2437093
54344
65125_at
7920633
ADDON002617.hg
ADDON002657.hg
A_23_P250506
A_23_P72840
A_24_P179925
A_33_P3257460
GE62227
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005783
GO:0005789
GO:0005975
GO:0006464
GO:0006486
GO:0006506
GO:0006629
GO:0008047
GO:0008150
GO:0009058
GO:0016020
GO:0016021
GO:0018406
GO:0030176
GO:0030234
GO:0031501
GO:0031647
GO:0032991
GO:0033185
GO:0035268
GO:0035269
GO:0043226
GO:0050790
HMNXSV003035175
ILMN_1673323
ILMN_2376408
ILMN_2402674
PH_hs_0006086
TC01003303.hg
g9506552_3p_at
Participates
as a component of
DPM1:DPM2:DPM3 L85S [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
DPM3 [endoplasmic reticulum membrane]
Modified Residues
Name
L-leucine 85 replaced with L-serine
Coordinate
85
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
RefSeq
XP_016856987.1
,
NP_714963.1
,
NP_061846.2
OpenTargets
ENSG00000179085
GeneCards
Q9P2X0
HPA
ENSG00000179085-DPM3
Ensembl
ENST00000341298
,
ENST00000368400
,
ENST00000368399
,
ENSG00000179085
,
ENSP00000357384
,
ENSP00000344338
,
ENSP00000357385
PRO
Q9P2X0
Pharos - Targets
Q9P2X0
Orphanet
20271
HMDB Protein
HMDBP11714
© 2022
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text