InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DPM2

Summary

InnateDB Protein

IDBP-87050.5

Last Modified

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

Gene Symbol

DPM2

Protein Name

dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit

Synonyms

CDG1U;

Species

Homo sapiens

Ensembl Protein

ENSP00000322181

InnateDB Gene

IDBG-87048 (DPM2)

Protein Structure

UniProt Annotation

Function

Regulates the biosynthesis of dolichol phosphate- mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity. {ECO:0000269PubMed:10944123}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Disease Associations

Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042]: 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. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-dystroglycan. {ECO:0000269PubMed:23109149}. 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 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	5 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004582	dolichyl-phosphate beta-D-mannosyltransferase activity
GO:0005515	protein binding
GO:0030234	enzyme regulator activity

Biological Process

GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0006501	C-terminal protein lipidation
GO:0006506	GPI anchor biosynthetic process
GO:0009059	macromolecule biosynthetic process
GO:0016254	preassembly of GPI anchor in ER membrane
GO:0018279	protein N-linked glycosylation via asparagine
GO:0019348	dolichol metabolic process
GO:0031647	regulation of protein stability
GO:0035269	protein O-linked mannosylation
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0050790	regulation of catalytic activity
GO:0097502	mannosylation

Cellular Component

GO:0000506	glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0033185	dolichol-phosphate-mannose synthase complex
GO:0048471	perinuclear region of cytoplasm