DOLK dolichol kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: DOLKprovided by HGNC
Official Full Name: dolichol kinaseprovided by HGNC
Primary source: HGNC:HGNC:23406
See related: Ensembl:ENSG00000175283 MIM:610746; AllianceGenome:HGNC:23406
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DK; DK1; CDG1M; SEC59; TMEM15
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 for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128945530..128947603, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (141148939..141151012, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (131707809..131709882, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
Title: Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
These patients represent an earlier and more severe form of DOLK-CDG (CDG-1m) with a striking presentation at birth that expands the known phenotypic spectrum.
Title: Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations.
Title: Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
Mutation in dolichol kinase is associated with a defect in dolichol phosphate biosynthesis causing a new inherited disorder with death in early infancy
Title: A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
dolichol kinase is a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site
Title: Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
DK1-congenital disorder of glycosylation MedGen: C1835849 OMIM: 610768 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD10329 (e-PCR)
- UniSTS:291368

REN36741 (e-PCR)
- UniSTS:361541

REN36742 (e-PCR)
- UniSTS:361542

REN36743 (e-PCR)
- UniSTS:361543

REN36744 (e-PCR)
- UniSTS:361544

REN36745 (e-PCR)
- UniSTS:361545

REN36746 (e-PCR)
- UniSTS:361546

REN36747 (e-PCR)
- UniSTS:361547

REN36748 (e-PCR)
- UniSTS:361548

REN36749 (e-PCR)
- UniSTS:361549

REN36750 (e-PCR)
- UniSTS:361550

REN36751 (e-PCR)
- UniSTS:361551

REN36752 (e-PCR)
- UniSTS:361552

REN36753 (e-PCR)
- UniSTS:361553

REN36754 (e-PCR)
- UniSTS:361554

ECD23487 (e-PCR)
- UniSTS:304471

ECD08075 (e-PCR)
- UniSTS:289123

ECD07840 (e-PCR)
- UniSTS:288890

ECD11198 (e-PCR)
- UniSTS:292234

stSG628087 (e-PCR)
- UniSTS:457437

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dolichol kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dolichol kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables dolichol kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables dolichol kinase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dolichyl diphosphate biosynthetic process	TAS Traceable Author Statement more info
involved_in dolichyl monophosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dolichyl monophosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dolichyl monophosphate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein mannosylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dolichol kinase

Names: SEC59 homolog; dolichol kinase 1; transmembrane protein 15

NP_055723.1

EC 2.7.1.108

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.