dolichol kinase

Summary
Gene Symbol
  • DOLK
Aliases
  • DK1
  • KIAA1094
  • dolichol kinase 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
22845
HGNC
23406
KEGG Gene ID
hsa:22845
PubChem
22845
Alliance of Genome Resources
Annotation
Keyword
  • Congenital disorder of glycosylation
  • Disease variant
  • Endoplasmic reticulum
  • Kinase
  • Lipid metabolism
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9UPQ8
  • Transmembrane protein 15
A0A0S2Z597
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K00902
Name
dolichol kinase [EC:2.7.1.108]
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 58 in total
DO ID Disease Name Source
DOID:0110459 dilated cardiomyopathy 1FF
DOID:0110460 dilated cardiomyopathy 2A
DOID:0110461 X-linked dilated cardiomyopathy
DOID:0110861 autosomal recessive polycystic kidney disease
DOID:0111135 congenital generalized lipodystrophy type 1
DOID:0111136 congenital generalized lipodystrophy type 2
DOID:0111137 congenital generalized lipodystrophy type 3
DOID:0111138 congenital generalized lipodystrophy type 4
DOID:0111338 isolated elevated serum creatine phosphokinase levels
DOID:10003 sensorineural hearing loss
The Human Phenotype Ontology
Displaying entries 1 - 10 of 55 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000253 Progressive microcephaly
HP:0000407 Sensorineural hearing impairment
HP:0000486 Strabismus
HP:0000505 Visual impairment
HP:0000639 Nystagmus
HP:0000653 Sparse eyelashes
HP:0000729 Autistic behavior
HP:0000817 Reduced eye contact
HP:0000958 Dry skin
Displaying all 3 entries
Disease ID Disease Name
ORPHA:154
  • dilated cardiomyopathy 1KK
  • obsolete familial isolated dilated cardiomyopathy
ORPHA:91131
  • DK1-congenital disorder of glycosylation
OMIM:610768
  • DK1-congenital disorder of glycosylation
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006686
Gene Name
dolichol kinase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024