MPDU1 - mannose-P-dolichol utilization defect 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9526

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	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16237761	GOA

Biological Process GO Annotation	Evidence	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS08608	MPDU1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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