Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
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
Analyze Data
Species Comparison
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site map
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
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
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
Analyze Data
Species Comparison
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site map
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
DOLK H408D [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4755548
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Dolichol kinase, DOLK_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective DOLK causes DOLK-CDG (CDG-1m) (Homo sapiens)
Defective DOLK does not phosphorylate DCHOL (Homo sapiens)
DOLK mutants [endoplasmic reticulum membrane] (Homo sapiens)
DOLK H408D [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9UPQ8 DOLK
Gene Names
DOLK, KIAA1094, TMEM15, UNQ2422/PRO4980
Chain
chain:1-538
Reference Genes
BioGPS Gene:22845 DOLK
COSMIC (genes):DOLK DOLK
CTD Gene:22845 DOLK
dbSNP Gene:22845 DOLK
ENSEMBL:ENSG00000175283 DOLK
HGNC:23406 DOLK
KEGG Gene (Homo sapiens):22845 DOLK
Monarch:22845 DOLK
NCBI Gene:22845 DOLK
OMIM:610746 DOLK
UCSC:Q9UPQ8 DOLK
Reference Transcript
RefSeq:NM_014908.3 DOLK
Other Identifiers
0007000364
00510+2.7.1.108
11724825_a_at
11752810_a_at
17098974
204488_at
22845
3226790
3226791
3226792
3226793
3226794
3226795
35403_at
66767
68706
8164515
A0A0S2Z597
A_23_P10870
AAH35556
AAQ89119
AB029017
AL672142
ALQ34011
AY358759
BAA83046
BC035556
CCDS6915
CH471090
DOLK
DOLK-201
EAW87849
ENSG00000175283
ENSP00000361667
ENST00000372586
ENST00000372586.3
EntrezGene:22845
EntrezGene:DOLK
g7662481_3p_at
GE53743
GO:0003674
GO:0004168
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0006464
GO:0006489
GO:0006629
GO:0008150
GO:0009058
GO:0016020
GO:0016021
GO:0016301
GO:0016310
GO:0016740
GO:0030176
GO:0043048
GO:0043226
HGNC:23406
HPA066767
HPA068706
ILMN_1753627
IPR026566
IPR032974
KU178553
LRG_744
LRG_744t1
MIM:610746
MIM:610768
NM_014908
NP_055723
PH_hs_0026195
TC09001641.hg
UPI0000001C36
Participant Of
hasMember
DOLK mutants [endoplasmic reticulum membrane]
Other forms of this molecule
DOLK Y441S [endoplasmic reticulum membrane]
DOLK W304C [endoplasmic reticulum membrane]
DOLK C99S [endoplasmic reticulum membrane]
DOLK M1I [endoplasmic reticulum membrane]
DOLK [endoplasmic reticulum membrane]
Modified Residues
Name
L-histidine 408 replaced with L-aspartic acid
Coordinate
408
PsiMod
L-histidine removal [MOD:01639]
A protein modification that effectively removes or replaces an L-histidine.
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
0050570
Cross References
RefSeq
NP_055723.1
OpenTargets
ENSG00000175283
GeneCards
Q9UPQ8
PRO
Q9UPQ8
Orphanet
16439
HMDB Protein
HMDBP09153
Interactors (18)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P22001 KCNA3
1
KCNA3 [plasma membrane]
(R-HSA-977475)
0.696
5
UniProt:Q92838 EDA
1
EDA [plasma membrane]
(R-HSA-5667156)
0.696
5
UniProt:P17658 KCNA6
1
KCNA6 [plasma membrane]
(R-HSA-977470)
0.621
3
UniProt:Q9HCJ2 LRC4C
0.621
3
UniProt:Q96BA8 CREB3L1
7
CREB3L1(427-519) [Golgi membrane]
(R-HSA-8874139)
CREB3L1 [Golgi membrane]
(R-HSA-8874155)
CREB3L1(1-426) [Golgi membrane]
(R-HSA-8874153)
CREB3L1 [endoplasmic reticulum membrane]
(R-HSA-8874157)
CREB3L1(1-375) [cytosol]
(R-HSA-8874215)
CREB3L1(376-426) [Golgi membrane]
(R-HSA-8874213)
CREB3L1(1-375) [nucleoplasm]
(R-HSA-8874222)
0.488
2
UniProt:Q8TED1 GPX8
1
GPX8 [endoplasmic reticulum lumen]
(R-HSA-3341303)
0.488
2
UniProt:Q8TBG9 SYNPR
0.488
2
UniProt:Q8TBE3 FNDC9
0.488
2
UniProt:Q9H9P2 CHODL
0.488
2
UniProt:P48165 GJA8
1
GJA8 [endoplasmic reticulum membrane]
(R-HSA-190702)
0.488
2
UniProt:Q5JX71 F209A
0.488
2
UniProt:Q9H7M9 VISTA
0.488
2
UniProt:Q09470 KCNA1
1
KCNA1 [plasma membrane]
(R-HSA-977482)
0.488
2
UniProt:Q92624 APBP2
0.488
2
UniProt:Q96B21 TM45B
0.488
2
UniProt:Q92536 SLC7A6
1
SLC7A6 [plasma membrane]
(R-HSA-379425)
0.488
2
UniProt:Q16322 KCNA10
1
KCNA10 [plasma membrane]
(R-HSA-977480)
0.488
2
UniProt:Q96HE8 TMM80
0.488
2
© 2019
Reactome