DOLK (dolichol kinase)

2014-11-01  

Identity

HGNC
DOLK
LOCATION
9q34.11
LOCUSID
22845
ALIAS
CDG1M,DK,DK1,SEC59,TMEM15

Other Information

Locus ID:

NCBI: 22845
MIM: 610746
HGNC: 23406
Ensembl: ENSG00000175283

Variants:

dbSNP: 22845
ClinVar: 22845
TCGA: ENSG00000175283
COSMIC: DOLK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175283ENST00000372586Q9UPQ8
ENSG00000175283ENST00000372586A0A0S2Z597

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of Dolichyl-phosphateREACTOMER-HSA-446199

References

Pubmed IDYearTitleCitations
222420042011Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.47
172739642007A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.26
169238182006Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site.15
288164222017Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.1

Citation

Dessen P

DOLK (dolichol kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62596/dolk