DOLK - dolichol kinase Gene

Also Known as DK; DK1; CDG1M; SEC59; TMEM15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22845

About DOLK

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,945,530-128,947,603 (from NCBI)

This gene has 1 transcript (splice variant), 192 orthologues and is associated with 4 phenotypes.

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]

DOLK Products (1)

mRNA	Protein	Name
NM_014908.4	NP_055723.1	dolichol kinase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dolichol kinase activity	IDA IDA: Inferred from direct assay	12213788	GOA
enables dolichol kinase activity	IMP IMP: Inferred from mutant phenotype	22242004	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dolichyl monophosphate biosynthetic process	IDA IDA: Inferred from direct assay	12213788	GOA
involved in dolichyl monophosphate biosynthetic process	IMP IMP: Inferred from mutant phenotype	22242004	GOA
involved in protein mannosylation	IMP IMP: Inferred from mutant phenotype	22242004	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16923818	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
dolichol kinase	SEC59 homolog

DOLK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DOLK	Q9UPQ8	SYNPR	Homo sapiens	Q8TBG9	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	SYNPR	Homo sapiens	Q8TBG9	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	GPX8	Homo sapiens	Q8TED1	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	GPX8	Homo sapiens	Q8TED1	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	TMEM80	Homo sapiens	Q96HE8	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	TMEM80	Homo sapiens	Q96HE8	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	FNDC9	Homo sapiens	Q8TBE3	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	FNDC9	Homo sapiens	Q8TBE3	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	KCNA10	Homo sapiens	Q16322	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	KCNA10	Homo sapiens	Q16322	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	CHODL	Homo sapiens	Q9H9P2	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	CHODL	Homo sapiens	Q9H9P2	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	SLC7A6	Homo sapiens	Q92536	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	SLC7A6	Homo sapiens	Q92536	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	TMEM45B	Homo sapiens	Q96B21	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	TMEM45B	Homo sapiens	Q96B21	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	LRRC4C	Homo sapiens	Q9HCJ2	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	EDA	Homo sapiens	Q92838	Y2H Prey Pooling	25416956
Intra	DOLK	Q9UPQ8	EDA	Homo sapiens	Q92838	Validated Y2H	25416956
Intra	DOLK	Q9UPQ8	EDA	Homo sapiens	Q92838	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	EDA	Homo sapiens	Q92838	Y2H Array	25416956
Intra	DOLK	Q9UPQ8	EDA	Homo sapiens	Q92838	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	KCNA6	Homo sapiens	P17658	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	KCNA6	Homo sapiens	P17658	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	APPBP2	Homo sapiens	Q92624	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	APPBP2	Homo sapiens	Q92624	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	VSIR	Homo sapiens	Q9H7M9	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	VSIR	Homo sapiens	Q9H7M9	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	CD79A	Homo sapiens	P11912	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	KCNA1	Homo sapiens	Q09470	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	KCNA1	Homo sapiens	Q09470	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	KCNA3	Homo sapiens	P22001	Y2H Array	26871637
Intra	DOLK	Q9UPQ8	KCNA3	Homo sapiens	P22001	Y2H Prey Pooling	32296183
Intra	DOLK	Q9UPQ8	KCNA3	Homo sapiens	P22001	Y2H Array	32296183
Intra	DOLK	Q9UPQ8	KCNA3	Homo sapiens	P22001	Validated Y2H	26871637
Intra	DOLK	Q9UPQ8	KCNA3	Homo sapiens	P22001	Y2H Prey Pooling	26871637

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Im	Dolichol Kinase Deficiency CDG1M Dk1 Deficiency Cdg Im Cdgim Congenital Disorder Of Glycosylation Im Congenital Disorder Of Glycosylation 1m Dolk-Congenital Disorder Of Glycosylation Dk1-Cdg Cdg-Im Congenital Disorder Of Glycosylation Type Im Cdg Syndrome Type Im Carbohydrate Deficient Glycoprotein Syndrome Type Im Congenital Disorder Of Glycosylation Type 1m Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency Glycosylation, Congenital Disorder Of, Type Im
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Kahrizi Syndrome	KHRZ Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive Intellectual Disability, Kahrizi Type Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome
Congenital Disorder Of Glycosylation, Type Iik	CDG2K Congenital Disorder Of Glycosylation Type Iik Cdg Iik Cdgiik Carbohydrate Deficient Glycoprotein Syndrome Type Iik Cdg Syndrome Type Iik Congenital Disorder Of Glycosylation Type 2k Tmem165-Cdg Cdg-Iik Cdgiidk Congenital Disorder Of Glycosylation 2k Glycosylation, Congenital Disorder Of, Type Iik
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3 Mddga3 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
Congenital Disorder Of Glycosylation, Type Iif	CDG2F Congenital Disorder Of Glycosylation Type Iif Cdg Iif Cdgiif Carbohydrate Deficient Glycoprotein Syndrome Type Iif Cmp-Sialic Acid Transporter Deficiency Slc35a1-Cdg Cdg-Iif Cdgiidf Cdg Syndrome Type Iif Congenital Disorder Of Glycosylation Type 2f Congenital Disorder Of Glycosylation 2f Glycosylation, Congenital Disorder Of, Type Iif
Muscular Dystrophy-Dystroglycanopathy , Type B, 1	MDDGB1 Muscular Dystrophy-Dystroglycanopathy , Type B1 Muscular Dystrophy, Congenital, Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Type B1 Cmd Due To Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1 Muscular Dystrophy Congenital Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Dystrophy, Muscular, Dystroglycanopathy , Type B1
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Motion Sickness	Airsickness Carsickness Seasickness Travel Sickness Riders' Vertigo
Muscular Dystrophy-Dystroglycanopathy , Type A, 4	Fukuyama Congenital Muscular Dystrophy Fcmd MDDGA4 Fukuyama Type Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Cmd Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy, Congenital Progressive, With Mental Retardation Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Congenital, With Central Nervous System Involvement Polymicrogyria With Muscular Dystrophy Congenital Muscular Dystrophy, Fukuyama Type Fktn-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4 Cerebromuscular Dystrophy Fukuyama Type Congenital Muscular Dystrophy Fukuyama Type Micropolygyria With Muscular Dystrophy Muscle-Eye-Brain Disease Fktn-Related Walker-Warburg Syndrome Fktn-Related
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Ngly1-Deficiency	Deficiency Of N-Glycanase 1 Ngly1-Cddg Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome Ngly1 Deficiency Congenital Disorder Of Deglycosylation Congenital Disorder Of Glycosylation Type Iv Congenital Disorder Of Deglycosylation Cddg Congenital Disorder Of Glycosylation Type Iv Cdg1v
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03940	DOLK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22145	Dolk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DOLK	RGD	RGD:1310821
Mus musculus	DOLK	MGD	MGI:2677836
Macaca mulatta	DOLK	VGNC	VGNC:71886
Felis catus	DOLK	VGNC	VGNC:61587
Bos taurus	DOLK	VGNC	VGNC:28170
Others	DOLK	NCBI