InnateDB Protein
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IDBP-103119.6
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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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DPM3
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Protein Name
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dolichyl-phosphate mannosyltransferase polypeptide 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000357384
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InnateDB Gene
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IDBG-103113 (DPM3)
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Protein Structure
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Function |
Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER. {ECO:0000269PubMed:10835346}.
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Subcellular Localization |
Endoplasmic reticulum membrane; Multi-pass membrane protein.
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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.
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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 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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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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Molecular Function |
Accession |
GO Term |
GO:0004582
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dolichyl-phosphate beta-D-mannosyltransferase activity
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GO:0005515
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protein binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR013174
Dolichol-phosphate mannosyltransferase subunit 3
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PFAM |
PF08285
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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 |
Q9P2X0
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PhosphoSite |
PhosphoSite-Q9P2X0
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TrEMBL |
Q86TM7
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UniProt Splice Variant |
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Entrez Gene |
54344
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UniGene |
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RefSeq |
NP_061846
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HUGO |
HGNC:3007
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OMIM |
605951
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CCDS |
CCDS1094
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HPRD |
16179
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IMGT |
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EMBL |
AB028128
AF312922
AF312923
AK293625
AL691442
BC032223
BC104202
BC104203
CH471121
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GenPept |
AAH32223
AAI04203
AAI04204
AAK28486
AAK28487
BAA96291
BAG57082
CAI15325
CAI15326
EAW53126
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