InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MPDU1

Summary

InnateDB Protein

IDBP-26009.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MPDU1

Protein Name

mannose-P-dolichol utilization defect 1

Synonyms

CDGIF; HBEBP2BPA; Lec35; My008; PP3958; PQLC5; SL15;

Species

Homo sapiens

Ensembl Protein

ENSP00000250124

InnateDB Gene

IDBG-26005 (MPDU1)

Protein Structure

UniProt Annotation

Function

Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors. {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:11733556, ECO:0000269PubMed:11733564}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0006457	protein folding
GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0006810	transport
GO:0009312	oligosaccharide biosynthetic process

Cellular Component

GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome