| Type | Description |
|---|---|
| Definition | dolichol kinase |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:24:00 | Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency. | 32250540 |
| 2017-12-02 10:26:00 | These patients represent an earlier and more severe form of DOLK-CDG (CDG-1m) with a striking presentation at birth that expands the known phenotypic spectrum. | 28816422 |
| 2012-03-24 10:30:00 | We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations. | 22242004 |
| 2010-01-21 00:00:00 | Mutation in dolichol kinase is associated with a defect in dolichol phosphate biosynthesis causing a new inherited disorder with death in early infancy | 17273964 |
| 2010-01-21 00:00:00 | dolichol kinase is a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site | 16923818 |
| Type | IDs |
|---|---|
| Synonymous | CDG1M, DK, DK1, SEC59, TMEM15 |
| Gene |
UniProtKB-ID:
DOLK_HUMAN,
A0A0S2Z597_HUMAN
UniprotKB:
Q9UPQ8,
A0A0S2Z597
UniParc:
UPI0000001C36
EMBL:
AL672142,
CH471090,
KU178553,
AB029017,
BC035556,
AY358759
Ensembl:
ENSG00000175283
KO:
hsa:22845
|
| Nucleutide sequences |
EMBL-CDS:
AAH35556.1,
AAQ89119.1,
BAA83046.2,
ALQ34011.1,
EAW87849.1
Gene_ORFName:
UNQ2422/PRO4980,
hCG_30591
Ensembl_TRS:
ENST00000372586
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000361667
RefSeq:
NP_055723.1
|
| Others |
UniRef100:
UniRef100_Q9UPQ8
UniRef90:
UniRef90_Q9UPQ8
UniRef50:
UniRef50_Q9UPQ8
UniGene:
Hs.531563
CCDS:
CCDS6915.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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