InnateDB Protein
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IDBP-87050.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DPM2
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Protein Name
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dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
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Synonyms
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CDG1U;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000322181
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InnateDB Gene
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IDBG-87048 (DPM2)
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Protein Structure
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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}.
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Subcellular Localization |
Endoplasmic reticulum membrane; Multi-pass membrane protein.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
5
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
GO:0000506
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glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
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GO:0005783
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endoplasmic reticulum
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GO:0005789
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endoplasmic reticulum membrane
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GO:0030176
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integral component of endoplasmic reticulum membrane
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GO:0033185
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dolichol-phosphate-mannose synthase complex
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GO:0048471
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perinuclear region of cytoplasm
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PDB ID |
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InterPro |
IPR009914
Dolichol phosphate-mannose biosynthesis regulatory
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PFAM |
PF07297
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O94777
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
8818
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UniGene |
Hs.108973
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RefSeq |
NP_003854
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HUGO |
HGNC:3006
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OMIM |
603564
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CCDS |
CCDS6886
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HPRD |
16028
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IMGT |
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EMBL |
AB013361
AB451329
AB451473
AF061729
AL157935
BC015233
BC107863
CH471090
CR542134
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GenPept |
AAG43140
AAH15233
AAI07864
BAA33974
BAG70143
BAG70287
CAG46931
CAI12615
EAW87730
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