DPM1 - dolichyl-phosphate mannosyltransferase subunit 1, catalytic Gene

Also Known as MPDS; CDGIE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8813

About DPM1

Cytogenetic location: 20q13.13 Genomic coordinates (GRCh38): 20:50,934,855-50,958,564 (from NCBI)

This gene has 16 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 24.6), thyroid (RPKM 23.5) 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. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

DPM1 Products (4)

mRNA	Protein	Name
NM_001317034.1	NP_001303963.1	dolichol-phosphate mannosyltransferase subunit 1 isoform 1
NM_001317035.1	NP_001303964.1	dolichol-phosphate mannosyltransferase subunit 1 isoform 2
NM_001317036.1	NP_001303965.1	dolichol-phosphate mannosyltransferase subunit 1 isoform 4
NM_003859.3	NP_003850.1	dolichol-phosphate mannosyltransferase subunit 1 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dolichyl-phosphate beta-D-mannosyltransferase activity	EXP EXP: Inferred from Experiment	10835346	GOA
enables dolichyl-phosphate beta-D-mannosyltransferase activity	IDA IDA: Inferred from direct assay	9535917	GOA
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IDA IDA: Inferred from direct assay	9535917	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10835346	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	9535917	GOA
involved in GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	9535917	GOA
acts upstream of or within dolichol metabolic process	IDA IDA: Inferred from direct assay	9535917	GOA
involved in dolichol metabolic process	IDA IDA: Inferred from direct assay	10835346	GOA
involved in protein O-linked mannosylation	IDA IDA: Inferred from direct assay	9535917	GOA
involved in protein mannosylation	IDA IDA: Inferred from direct assay	9535917	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of dolichol-phosphate-mannose synthase complex	IDA IDA: Inferred from direct assay	9724629	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	9724629	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	9724629	GOA
located in membrane	IDA IDA: Inferred from direct assay	9535917	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

DPM1 Protein Structure

Glycos_transf_2

0
100
200
260 a.a.

Protein Preferred Names	Protein Names
dolichol-phosphate mannosyltransferase subunit 1	DPM synthase complex, catalytic subunit

DPM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DPM1	O60762	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	DPM1	O60762	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	DPM1	O60762	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	DPM1	O60762	TDO2	Homo sapiens	P48775	Y2H Prey Pooling	25416956
Intra	DPM1	O60762	TDO2	Homo sapiens	P48775	Y2H Array	25910212
Intra	DPM1	O60762	TDO2	Homo sapiens	P48775	Y2H Array	25416956
Intra	DPM1	O60762	TDO2	Homo sapiens	P48775	Validated Y2H	25910212
Intra	DPM1	O60762	TDO2	Homo sapiens	P48775	Y2H Bait-Prey Pool	25910212
Intra	DPM1	O60762	TDO2	Homo sapiens	P48775	Validated Y2H	25416956
Intra	DPM1	O60762	DPM3	Homo sapiens	Q9P2X0	Anti Tag CoIP	10835346
Intra	DPM1	O60762	DPM3	Homo sapiens	Q9P2X0	Pull Down	23856421
Intra	DPM1	O60762	DPM3	Homo sapiens	Q9P2X0	Pull Down	10944123
Intra	DPM1	O60762	DPM3	Homo sapiens	Q9P2X0	TAP	10835346

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Myopathy, Distal, 3	MPD3 Distal Muscular Dystrophy 3 Distal Myopathy Type 3 Myopathy, Distal 3 Distal Myopathy 3 Finnish Upper Limb-Onset Distal Myopathy
Kahrizi Syndrome	KHRZ Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive Intellectual Disability, Kahrizi Type Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome
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 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 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
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
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
Helsmoortel-Van Der Aa Syndrome	HVDAS Mrd28 Adnp Syndrome Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28 Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28, Formerly Mrd28, Formerly Autosomal Dominant Mental Retardation 28 Adnp-Related Intellectual Disability And Autism Spectrum Disorder Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
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
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 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
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03958	DPM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22147	Dpm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28668	Dpm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DPM1	MGD	MGI:1330239
Macaca mulatta	DPM1	VGNC	VGNC:71975
Bos taurus	DPM1	VGNC	VGNC:28183
Rattus norvegicus	DPM1	RGD	RGD:1310120
Canis familiaris	DPM1	VGNC	VGNC:40070
Others	DPM1	NCBI