dolichol kinase

Summary
Gene Symbol
  • DOLK
Aliases
  • DK1
  • KIAA1094
  • dolichol kinase 1
Organism
Homo sapiens (human)
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
OrthoDB (Group)
Group level
Eukaryota
Group Name
Dolichol kinase
Functional Category
  • I: Lipid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • Q: Secondary metabolites biosynthesis, transport and catabolism
KEGG BRITE Database
Orthology
K00902
Name
dolichol kinase [EC:2.7.1.108]
References
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0050570 congenital disorder of glycosylation type I
DOID:0080565 congenital disorder of glycosylation Im
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
OMIM:610768
  • DK1-congenital disorder of glycosylation
ORPHA:91131
  • 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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