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MIRAGE
mannose-P-dolichol utilization defect 1

Summary
Gene Symbol
  • MPDU1
Aliases
  • CDGIf
  • Lec35
  • PQLC5
  • SL15
  • SLC66A5
Organism
Homo sapiens (human)
NCBI Gene
9526
HGNC
7207
KEGG Gene ID
hsa:9526
PubChem
9526
Alliance of Genome Resources
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
dolichol-linked oligosaccharide biosynthetic process
oligosaccharide biosynthetic process
oligosaccharide biosynthetic process
oligosaccharide biosynthetic process
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
OrthoDB (Group)
Group level
Eukaryota
Group Name
mannose-P-dolichol utilization defect 1 protein
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
Displaying 1 entry
Gene Ontology
oligosaccharide biosynthetic process
Displaying all 2 entries
InterPro
Mannose-P-dolichol utilization defect 1 protein
PQ-loop repeat
KEGG BRITE Database
Orthology
K09660
Name
mannose-P-dolichol utilization defect 1
References
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0080558 congenital disorder of glycosylation If
The Human Phenotype Ontology
Displaying entries 11 - 20 of 40 in total
HPO ID HPO Term
HP:0000958 Dry skin
HP:0000962 Hyperkeratosis
HP:0000964 Eczematoid dermatitis
HP:0001019 Erythroderma
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001252 Hypotonia
HP:0001276 Hypertonia
HP:0001344 Absent speech
HP:0001371 Flexion contracture
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
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 1 - 10 of 76 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
9526 ZFIN:ZDB-GENE-040912-9
24070 ZFIN:ZDB-GENE-040912-9 MOUSE05688
33717 ZFIN:ZDB-GENE-040912-9
179218 ZFIN:ZDB-GENE-040912-9
303244 ZFIN:ZDB-GENE-040912-9
415220 ZFIN:ZDB-GENE-040625-135 DANRE40069
447806 ZFIN:ZDB-GENE-040912-9
455217 PANTR13489
489477 CANLF15459
504961 BOVIN12754
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025