MPDU1 - mannose-P-dolichol utilization defect 1 Gene

Homo sapiens

Also known as SL15; CDGIF; Lec35; My008; PQLC5; PP3958; SLC66A5; HBEBP2BPA

Gene ID: 9526 | Gene type: protein coding

About MPDU1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,583,647-7,588,212 (from NCBI)

This gene has 27 transcripts (splice variants), 254 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 20.5), duodenum (RPKM 20.5) and 25 other tissues.

Summary

This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

MPDU1 Products(2)

mRNA	Protein	Name
NM_001330073.1	NP_001317002.1	mannose-P-dolichol utilization defect 1 protein isoform 2
NM_004870.4	NP_004861.2	mannose-P-dolichol utilization defect 1 protein isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16237761	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in oligosaccharide biosynthetic process	IGI IGI: Inferred from genetic interaction	11733564	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

MPDU1 Protein Structure

PQ-loop

0
100
200
247 a.a.

Protein Preferred Names

Protein Names

mannose-P-dolichol utilization defect 1 protein

HBeAg-binding protein 2 binding protein A

MPDU1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MPDU1	O75352	MANBAL	Homo sapiens	Q9NQG1	Validated Y2H	32296183
Intra	MPDU1	O75352	MANBAL	Homo sapiens	Q9NQG1	Y2H Array	32296183
Intra	MPDU1	O75352	MANBAL	Homo sapiens	Q9NQG1	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Congenital Disorder Of Glycosylation, Type If

CDG1F	Cdg If
Cdgif	Congenital Disorder Of Glycosylation 1f
Mpdu1-Cdg	Cdg-If
Congenital Disorder Of Glycosylation Type If	Congenital Disorder Of Glycosylation If
Cdg Syndrome Type If	Carbohydrate Deficient Glycoprotein Syndrome Type If
Congenital Disorder Of Glycosylation Type 1f	Glycosylation, Congenital Disorder Of, Type If

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

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

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

Cardiomyopathy, Dilated, 1kk

Cardiomyopathy, Familial Restrictive, 4	Dilated Cardiomyopathy 1kk
CMD1KK	Cardiomyopathy, Hypertrophic, 22
Cardiomyopathy, Dilated 1kk	Cardiomyopathy, Familial Hypertrophic 22
CMH22	Cardiomyopathy, Familial Restrictive 4
RCM4	Familial Hypertrophic Cardiomyopathy 22
Cardiomyopathy, Dilated, Type 1kk	Cardiomyopathy, Familial Hypertrophic, 22

Cardiomyopathy, Familial Hypertrophic, 9

Hypertrophic Cardiomyopathy 9	CMH9
Cardiomyopathy, Familial Hypertrophic 9	Cardiomyopathy, Hypertrophic, Familial, Type 9

Erythema Infectiosum

Fifth Disease	Slapped Cheek Syndrome
Parvovirus B19 Infection

Kahrizi Syndrome

KHRZ	Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive
Intellectual Disability, Kahrizi Type	Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome

Complex Partial Epilepsy

Epilepsy, Complex Partial	Complex Partial Epileptic Seizure
Epilepsy, Psychomotor	Psychomotor Epilepsy

Congenital Disorder Of Glycosylation, Type Iih

CDG2H	Congenital Disorder Of Glycosylation Type Iih
Cdg Iih	Cdgiih
Carbohydrate Deficient Glycoprotein Syndrome Type Iih	Congenital Disorder Of Glycosylation Type 2h
Cog8-Cdg	Cdg-Iih
Cdgiidh	Cdg Syndrome Type Iih
Congenital Disorder Of Glycosylation 2h	Glycosylation, Congenital Disorder Of, Type Iih

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

Viral Exanthem

Viral Rash Nos	Virus Exanthema
Nonspecific Exanthematous Viral Infection	Nonspecific Viral Exanthem
Nonspecific Viral Rash	Viral Enanthema Nos
Viral Disease Characterised By Exanthem	Viral Exanthemata
Viral Exanthem, Unspecified	Viral Exanthema Nos

Congenital Disorder Of Glycosylation, Type Iia

CDG2A	Congenital Disorder Of Glycosylation Type Iia
Cdg Iia	Cdgiia
Congenital Disorder Of Glycosylation Type 2a	Alkuraya Syndrome
Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth	Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
Mgat2-Cdg	Cdg-Iia
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly	Cdgs2, Formerly
Cdgs2	Cdg Syndrome Type Iia
Carbohydrate Deficient Glycoprotein Syndrome Type Iia	N-Acetylglucosaminyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2a	Carbohydrate-Deficient Glycoprotein Syndrome Type Ii
Cdgs Type Ii	Carbohydrate-Deficient Glycoprotein Syndrome Type 2
Glycosylation, Congenital Disorder Of, Type Iia

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

Rippling Muscle Disease 2

Rippling Muscle Disease	Rmd
Lgmd1c	RMD2
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c	Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly	Lgmd1c, Formerly
Limb-Girdle Muscular Dystrophy Type 1c	Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency
Muscular Dystrophy, Limb-Girdle, Type Ic	Rippling Muscle Syndrome
Limb-Girdle Muscular Dystrophy 1c	Dystrophy, Muscular, Limb-Girdle, Type 1c
Disease, Muscle, Rippling, Type 2	Rippling Muscle Disease 1

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08608	MPDU1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MPDU1	VGNC	VGNC:74913
Rattus norvegicus	MPDU1	RGD	RGD:1307699
Bos taurus	MPDU1	VGNC	VGNC:31571
Canis familiaris	MPDU1	VGNC	VGNC:43331
Mus musculus	MPDU1	MGD	MGI:1346040
Felis catus	MPDU1	VGNC	VGNC:68304

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