InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DPM3

Summary

InnateDB Protein

IDBP-103117.5

Last Modified

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

Gene Symbol

DPM3

Protein Name

dolichyl-phosphate mannosyltransferase polypeptide 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000357385

InnateDB Gene

IDBG-103113 (DPM3)

Protein Structure

UniProt Annotation

Function

Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER. {ECO:0000269PubMed:10835346}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Disease Associations

Congenital disorder of glycosylation 1O (CDG1O) [MIM:612937]: 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. CDG1O patients have increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan. {ECO:0000269PubMed:19576565}. 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 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

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

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0006501	C-terminal protein lipidation
GO:0006506	GPI anchor biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0018406	protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan
GO:0031647	regulation of protein stability
GO:0035268	protein mannosylation
GO:0035269	protein O-linked mannosylation
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0031501	mannosyltransferase complex
GO:0033185	dolichol-phosphate-mannose synthase complex