Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
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 3 entries
GO Term Evidence Code PMID
protein folding
oligosaccharide biosynthetic process
dolichol-linked 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 1 - 10 of 40 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000233 Thin vermilion border
HP:0000242 Parietal bossing
HP:0000252 Microcephaly
HP:0000260 Wide anterior fontanel
HP:0000486 Strabismus
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000803 Renal cortical cysts
HP:0000824 Decreased response to growth hormone stimulation test
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 41 - 50 of 77 in total
Species Gene ID OrthoDB Alliance of Genome Resources Orthologous MAtrix
102460237 PELSI05750
103045040 ASTMX05664
103242311 CHLSB05206
103264630 CARSF10714
103660364 URSMA20976
104661654 RHIRO28434
105473634 MACNE32036
105549869 MANLE14771
105582318 CERAT16935
105720801 AOTNA32923
About Release Notes Help Feedback

Click here to visit the beta site.

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.1.0

Last updated: December 9, 2024