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DOLK M1I [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4755593
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Dolichol kinase, DOLK_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 DOLK causes DOLK-CDG (Homo sapiens)
Defective DOLK does not phosphorylate DCHOL (Homo sapiens)
DOLK mutants [endoplasmic reticulum membrane] (Homo sapiens)
DOLK M1I [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:hsa:22845 DOLK
Monarch:22845 DOLK
NCBI Gene:22845 DOLK
OMIM:610746 DOLK
UCSC:Q9UPQ8 DOLK
Reference Transcript
RefSeq:NM_014908.3 DOLK
Other Identifiers
11724825_a_at
11752810_a_at
17098974
204488_PM_at
204488_at
22845
3226790
3226791
3226792
3226793
3226794
3226795
35403_at
8164515
A_23_P10870
GE53743
GO:0003824
GO:0004168
GO:0005515
GO:0005783
GO:0005789
GO:0006486
GO:0006489
GO:0006629
GO:0016020
GO:0016301
GO:0016740
GO:0035268
GO:0043048
GO:0043226
HMNXSV003025537
ILMN_1753627
PH_hs_0026195
TC09001641.hg
g7662481_3p_at
Participates
as a member of
DOLK mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
DOLK [endoplasmic reticulum membrane]
DOLK H408D [endoplasmic reticulum membrane]
DOLK C99S [endoplasmic reticulum membrane]
DOLK W304C [endoplasmic reticulum membrane]
DOLK Y441S [endoplasmic reticulum membrane]
Modified Residues
Name
L-methionine 1 replaced with L-isoleucine
Coordinate
1
PsiMod
L-methionine removal [MOD:01643]
A protein modification that effectively removes or replaces an L-methionine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
OpenTargets
ENSG00000175283
ENSEMBL
ENSP00000361667
,
ENST00000372586
HPA
ENSG00000175283-DOLK
PRO
Q9UPQ8
Pharos - Targets
Q9UPQ8
Orphanet
DOLK
HMDB Protein
HMDBP09153
Interactors (25)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9HCJ2 LRC4C
0.742
5
UniProt:P17658 KCNA6
1
KCNA6 [plasma membrane]
(R-HSA-977470)
0.742
6
UniProt:Q92838 EDA
1
EDA [plasma membrane]
(R-HSA-5667156)
0.718
6
UniProt:P22001 KCNA3
1
KCNA3 [plasma membrane]
(R-HSA-977475)
0.718
6
UniProt:Q96HE8 TMM80
0.556
3
UniProt:Q92536 SLC7A6
1
SLC7A6 [plasma membrane]
(R-HSA-379425)
0.556
3
UniProt:Q09470 KCNA1
1
KCNA1 [plasma membrane]
(R-HSA-977482)
0.556
7
UniProt:Q5JX71 F209A
0.556
3
UniProt:Q8TED1 GPX8
1
GPX8 [endoplasmic reticulum lumen]
(R-HSA-3341303)
0.556
3
UniProt:Q96BA8 CREB3L1
7
CREB3L1 [Golgi membrane]
(R-HSA-8874155)
CREB3L1(427-519) [Golgi membrane]
(R-HSA-8874139)
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)
0.556
3
UniProt:Q16322 KCNA10
1
KCNA10 [plasma membrane]
(R-HSA-977480)
0.556
5
UniProt:Q96B21 TM45B
0.556
3
UniProt:Q92624 APBP2
0.556
3
UniProt:Q9H7M9 VISTA
0.556
3
UniProt:P48165 GJA8
1
GJA8 [endoplasmic reticulum membrane]
(R-HSA-190702)
0.556
3
UniProt:Q9H9P2 CHODL
0.556
3
UniProt:Q8TBE3 FNDC9
0.556
3
UniProt:P11912 CD79A
2
p-Y188,Y199-CD79A [plasma membrane]
(R-HSA-983539)
CD79A [plasma membrane]
(R-HSA-197154)
0.556
3
UniProt:Q8TBG9 SYNPR
0.556
3
UniProt:Q9NZQ7 CD274
1
CD274 [plasma membrane]
(R-HSA-3211776)
0.527
2
UniProt:Q8WVE6 TM171
0.527
2
UniProt:Q8TD20 SLC2A12
1
SLC2A12 [plasma membrane]
(R-HSA-429046)
0.527
2
UniProt:P35414 APLNR
1
APLNR [plasma membrane]
(R-HSA-374259)
0.527
2
UniProt:P25090 FPR2
4
FPR2 [plasma membrane]
(R-HSA-416408)
FPR2 [ficolin-1-rich granule membrane]
(R-HSA-6803335)
FPR2 [specific granule membrane]
(R-HSA-6803319)
FPR2 [tertiary granule membrane]
(R-HSA-6803296)
0.527
2
UniProt:P22460 KCNA5
1
KCNA5 [plasma membrane]
(R-HSA-977472)
0.527
2
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