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mannose-P-dolichol utilization defect 1

Summary

Gene Symbol

MPDU1

Aliases

CDGIf
Lec35
PQLC5
SL15
SLC66A5

Organism

Homo sapiens (human)

External Links

NCBI Gene

9526

HGNC

7207

KEGG Gene ID

hsa:9526

PubChem

9526

Alliance of Genome Resources

HGNC:7207

Annotation

Keyword

Acetylation
Alternative splicing
Congenital disorder of glycosylation
Disease variant
Proteomics identification
Reference proteome
Repeat
Transmembrane helix
Transport

Proteins

Displaying **all 4** entries
UniProt	Protein Name
A0A0S2Z4W8
J3QW43
B4DLH7
O75352	Suppressor of Lec15 and Lec35 glycosylation mutation homolog

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
protein folding	NAS
dolichol-linked oligosaccharide biosynthetic process	TAS	11733564
oligosaccharide biosynthetic process	IDA
oligosaccharide biosynthetic process	IGI	11733564
oligosaccharide biosynthetic process	IBA

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

organic substance biosynthetic process [inference]

carbohydrate biosynthetic process [inference]

oligosaccharide biosynthetic process

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

oligosaccharide metabolic process [inference]

oligosaccharide biosynthetic process

carbohydrate biosynthetic process [inference]

oligosaccharide biosynthetic process

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

oligosaccharide metabolic process [inference]

oligosaccharide biosynthetic process

carbohydrate biosynthetic process [inference]

oligosaccharide biosynthetic process

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

carbohydrate derivative metabolic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

organic substance biosynthetic process [inference]

carbohydrate biosynthetic process [inference]

oligosaccharide biosynthetic process

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular process [inference]

protein folding

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	NAS
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying 1 entry
GO Term	Evidence Code	PMID
protein binding	IPI	16237761 32296183

GO Hierarchy

molecular function

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K09660

Name

mannose-P-dolichol utilization defect 1

References

11179430

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0080558	congenital disorder of glycosylation If	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 40 in total

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HPO ID	HPO Term
HP:0000233	Thin vermilion border
HP:0000242	Parietal bossing
HP:0000260	Wide anterior fontanel
HP:0000648	Optic atrophy
HP:0000803	Renal cortical cysts
HP:0000824	Decreased response to growth hormone stimulation test
HP:0000964	Eczematoid dermatitis
HP:0001250	Seizure
HP:0001276	Hypertonia
HP:0002119	Ventriculomegaly

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:79323	MPDU1-congenital disorder of glycosylation
OMIM:609180	MPDU1-congenital disorder of glycosylation

PubChem Disease

MedGen Diseases

MPDU1-congenital disorder of glycosylation

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F

KEGG Diseases

Congenital disorders of glycosylation type I

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **71 - 76** of 76 in total

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Species	Gene ID	Orthologous MAtrix
Sparus aurata	115590490	SPAAU08257
Corvus moneduloides	116438692	CORMO00156
Rhinolophus ferrumequinum	117013747	RHIFE07577
Balaenoptera musculus	118886499	BALMU11472
Panthera leo	122207315	PANLE05251
Ursus americanus	123792140	URSAM24694

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Guidelines

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements