DPM3 - dolichyl-phosphate mannosyltransferase subunit 3, regulatory Gene

Also Known as CDG1O; MDDGB15; MDDGC15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54344

About DPM3

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,139,891-155,140,531 (from NCBI)

This gene has 3 transcripts (splice variants), 179 orthologues and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 20.5), colon (RPKM 20.2) and 25 other tissues.

Summary

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]

DPM3 Products (2)

mRNA	Protein	Name
NM_018973.4	NP_061846.2	dolichol-phosphate mannosyltransferase subunit 3 isoform 1
NM_153741.2	NP_714963.1	dolichol-phosphate mannosyltransferase subunit 3 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme activator activity	IDA IDA: Inferred from direct assay	10835346	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10835346	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	10835346	GOA
involved in dolichol metabolic process	IDA IDA: Inferred from direct assay	10835346	GOA
involved in regulation of protein stability	IPI IPI: Inferred from physical interaction	10835346	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of dolichol-phosphate-mannose synthase complex	IDA IDA: Inferred from direct assay	10835346	GOA
part of dolichol-phosphate-mannose synthase complex	IPI IPI: Inferred from physical interaction	10835346	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10835346	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	10835346	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

DPM3 Protein Structure

DPM3

0
92 a.a.

Protein Preferred Names	Protein Names
dolichol-phosphate mannosyltransferase subunit 3	DPM synthase complex subunit 3

DPM3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DPM3	Q9P2X0	DPM2	Homo sapiens	O94777	Anti Tag CoIP	10835346
Intra	DPM3	Q9P2X0	DPM2	Homo sapiens	O94777	Anti Tag CoIP	10944123
Cross	DPM3	Q9P2X0	Dpm2	Rattus norvegicus	Q9Z325	Anti Tag CoIP	10835346
Cross	DPM3	Q9P2X0	Dpm2	Rattus norvegicus	Q9Z325	Anti Bait CoIP	10835346

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Muscular Dystrophy-Dystroglycanopathy , Type C, 15	Congenital Disorder Of Glycosylation, Type Io Cdg1o MDDGC15 Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dpm3-Related Cdg Io Cdgio Dpm3-Cdg Cdg-Io Congenital Disorder Of Glycosylation Type Io Cdg1 Cdg Syndrome Type Io Carbohydrate Deficient Glycoprotein Syndrome Type Io Congenital Disorder Of Glycosylation Type 1o Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C15 Congenital Disorder Of Glycosylation 1o
Muscular Dystrophy-Dystroglycanopathy , Type B, 15	MDDGB15 Muscular Dystrophy, Congenital, Dpm3-Related Muscular Dystrophy-Dystroglycanopathy Type B15 Congenital Muscular Dystrophy Dpm3-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B15 Dystrophy, Muscular, Dystroglycanopathy , Type B15
Muscular Dystrophy-Dystroglycanopathy	Cmd Due To Dystroglycanopathy Congenital Muscular Dystrophy Due To Dystroglycanopathy Mddg Dystrophy, Muscular, Dystroglycanopathy
Myopathy	Muscular Diseases Myopathies
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
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
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
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
Muscular Dystrophy-Dystroglycanopathy , Type C, 1	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k Lgmd2k MDDGC1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11 Lgmdr11 Muscular Dystrophy, Limb-Girdle, Type 2k Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome Limb-Girdle Muscular Dystrophy Type 2k Muscular Dystrophy Limb-Girdle Type 2k Muscular Dystrophy-Dystroglycanopathy Type C 1 Pomt1-Related Limb-Girdle Muscular Dystrophy R11 Lgmd Type 2k Pomt1-Related Lgmd R11 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 Dystrophy, Muscular, Limb-Girdle, Type 2k Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1
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
Muscular Dystrophy-Dystroglycanopathy , Type C, 3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o MDDGC3 Lgmd2o Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15 Lgmdr15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related Muscular Dystrophy, Limb-Girdle, Type 2o Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Type C3 Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15 Lgmd Type 2o Limb-Girdle Muscular Dystrophy Type 2o Pomgnt1-Related Lgmd R15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3 Dystrophy, Muscular, Limb-Girdle, Type 2o
Muscular Dystrophy-Dystroglycanopathy , Type C, 2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n Lgmd2n MDDGC2 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14 Lgmdr14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related Limb-Girdle Muscular Dystrophy Type 2n Muscular Dystrophy, Limb-Girdle, Type 2n Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related Muscular Dystrophy-Dystroglycanopathy Type C 2 Pomt2-Related Limb-Girdle Muscular Dystrophy R14 Lgmd Type 2n Pomt2-Related Lgmd R14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 Mdgd2c Dystrophy, Muscular, Limb-Girdle, Type 2n
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2 Mddga2 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2
Muscular Dystrophy-Dystroglycanopathy , Type B, 6	Muscular Dystrophy-Dystroglycanopathy Type B6 MDDGB6 Mdc1d Muscular Dystrophy, Congenital, Type 1d Congenital Muscular Dystrophy Type 1d Dystrophy, Muscular, Dystroglycanopathy , Type B6 Muscular Dystrophy, Congenital, Large-Related Congenital Muscular Dystrophy Large-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6 Muscular Dystrophy Large-Related
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
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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	MCAHS4 Glycosylphosphatidylinositol Biosynthesis Defect 19 Gpibd19 Developmental And Epileptic Encephalopathy 77 Epileptic Encephalopathy, Early Infantile, 77 Dee77 Eiee77 Developmental And Epileptic Encephalopathy, 77 Early Infantile Epileptic Encephalopathy 77 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1 Mddga1 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
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
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
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
Muscular Dystrophy-Dystroglycanopathy , Type C, 4	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Lgmd2m MDDGC4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13 Lgmdr13 Muscular Dystrophy, Limb-Girdle, Type 2m Muscular Dystrophy-Dystroglycanopathy Type C 4 Fukutin-Related Limb-Girdle Muscular Dystrophy R13 Autosomal Recessive Lgmd Type 2m Fukutin-Related Lgmd R13 Lgmd Type 2m Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4 Limb-Girdle Muscular Dystrophy Type 2m Mdgd4c Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c Dystrophy, Muscular, Limb-Girdle, Type 2m
Hydrophthalmos
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
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
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
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
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
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-RS03960	DPM3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29474	Dpm3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DPM3	MGD	MGI:1915813
Macaca mulatta	DPM3	VGNC	VGNC:71977
Canis familiaris	DPM3	VGNC	VGNC:40071
Rattus norvegicus	DPM3	RGD	RGD:1561807
Felis catus	DPM3	VGNC	VGNC:61601
Bos taurus	DPM3	VGNC	VGNC:28185
Others	DPM3	NCBI