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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

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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

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	9526	ZFIN:ZDB-GENE-040912-9
Mus musculus	24070	ZFIN:ZDB-GENE-040912-9	MOUSE05688
Danio rerio	33717	ZFIN:ZDB-GENE-040912-9
Danio rerio	179218	ZFIN:ZDB-GENE-040912-9
Danio rerio	303244	ZFIN:ZDB-GENE-040912-9
Danio rerio	415220	ZFIN:ZDB-GENE-040625-135	DANRE40069
Danio rerio	447806	ZFIN:ZDB-GENE-040912-9
Pan troglodytes	455217		PANTR13489
Canis lupus familiaris	489477		CANLF15459
Bos taurus	504961		BOVIN12754

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements