Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22845
Gene name	Dolichol kinase
Gene symbol	DOLK
Synonyms (NCBI Gene)	CDG1MDKDK1SEC59TMEM15
Chromosome	9
Chromosome location	9q34.11
Summary	The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and

Show/Hide all (16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027582	hsa-miR-98-5p	Microarray	19088304
MIRT048542	hsa-miR-100-5p	CLASH	23622248
MIRT1979312	hsa-miR-3120-5p	CLIP-seq
MIRT1979313	hsa-miR-3144-5p	CLIP-seq
MIRT1979314	hsa-miR-3151	CLIP-seq
MIRT1979315	hsa-miR-3191	CLIP-seq
MIRT1979316	hsa-miR-3199	CLIP-seq
MIRT1979317	hsa-miR-346	CLIP-seq
MIRT1979318	hsa-miR-4288	CLIP-seq
MIRT1979319	hsa-miR-4447	CLIP-seq
MIRT1979320	hsa-miR-4472	CLIP-seq
MIRT1979321	hsa-miR-4652-5p	CLIP-seq
MIRT1979322	hsa-miR-491-5p	CLIP-seq
MIRT1979323	hsa-miR-562	CLIP-seq
MIRT1979324	hsa-miR-626	CLIP-seq
MIRT1979325	hsa-miR-632	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004168	Function	Dolichol kinase activity	IBA
GO:0004168	Function	Dolichol kinase activity	IDA	12213788, 16923818
GO:0004168	Function	Dolichol kinase activity	IEA
GO:0004168	Function	Dolichol kinase activity	IMP	22242004
GO:0004168	Function	Dolichol kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 28514442, 32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16923818
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006487	Process	Protein N-linked glycosylation	IGI	12213788
GO:0006489	Process	Dolichyl diphosphate biosynthetic process	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0043048	Process	Dolichyl monophosphate biosynthetic process	IBA
GO:0043048	Process	Dolichyl monophosphate biosynthetic process	IDA	12213788, 16923818
GO:0043048	Process	Dolichyl monophosphate biosynthetic process	IMP	22242004
GO:0180047	Process	Dolichol phosphate mannose biosynthetic process	IGI	12213788

MIM	HGNC	e!Ensembl
610746	23406	ENSG00000175283

Q9UPQ8

Protein name

Dolichol kinase (EC 2.7.1.108) (Transmembrane protein 15)

Protein function

Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis (PubMed:12213788, PubMed:16923818, PubMed:17273964, PubMed:22242004). Dol-P is a lipid carrier essential for the synthes

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10470851}.

Sequence

MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKW
DRLLQQGSAVFQFRMSANSGLLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMA
VALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLSVGEVIEVLEVLLIFVYLNMI
LLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIF
FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYL
LAYWSLLATLACLVVLYQNAKRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLY
VAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERDSGPLILTHIYLLLGMSLPIW
LIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI
FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA

Sequence length

538

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Metabolic pathways		Synthesis of Dolichyl-phosphate Defective DOLK causes DOLK-CDG (CDG-1m)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs587777137, rs761604406, rs766645192	RCV002433594 RCV002382829 RCV004519565	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DK1-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs587777137, rs137853109, rs137853110, rs760691868, rs387907030, rs1564545929, rs1564546510	RCV000087064 RCV000001190 RCV000001191 RCV003854954 RCV000023835 RCV000023836 RCV000023837 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DK1-CDG	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOLK-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 26	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adactyly	Adactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	22242004, 24144945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	24144945		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22242004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1q	Congenital Disorder Of Glycosylation	GENOMICS_ENGLAND_DG	22242004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type Im	Congenital disorder of glycosylation	Pubtator	22242004, 24144945	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	24144945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation, Type Im	Congenital disorder of glycosylation	BEFREE	17273964, 24144945		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type Im	Congenital disorder of glycosylation	UNIPROT_DG	17273964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type Im	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	22242004, 23890587, 24144945, 27604308, 28816422		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type Im	Congenital disorder of glycosylation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type Im	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	22242004, 28816422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	22242004, 24144945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	24144945, 28816422, 29702557		★★★★★ ★☆☆☆☆ Found in Text Mining only
DK1-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	22242004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	24144945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

DOLK (dolichol kinase)