DOLK (dolichol kinase)

2014-11-01 Affiliation

Identity

HGNC

DOLK

LOCATION

9q34.11

LOCUSID

22845

ALIAS

CDG1M,DK,DK1,SEC59,TMEM15

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000175283	ENST00000372586	Q9UPQ8
ENSG00000175283	ENST00000372586	A0A0S2Z597

Expression (GTEx)

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

Pathway	Source	External ID
N-Glycan biosynthesis	KEGG	ko00510
N-Glycan biosynthesis	KEGG	hsa00510
Metabolic pathways	KEGG	hsa01100
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193
Synthesis of substrates in N-glycan biosythesis	REACTOME	R-HSA-446219
Synthesis of Dolichyl-phosphate	REACTOME	R-HSA-446199

References

Pubmed ID	Year	Title	Citations
32250540	2020	Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.	2
32250540	2020	Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.	2
28816422	2017	Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.	6
28816422	2017	Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.	6
22242004	2011	Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.	61
22242004	2011	Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.	61
17273964	2007	A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.	33
17273964	2007	A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.	33
16923818	2006	Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site.	18
16923818	2006	Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site.	18

Citation

Dessen P

DOLK (dolichol kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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