Version 5.4
Homo sapiens Protein: PDSS2
Summary
InnateDB Protein IDBP-94926.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDSS2
Protein Name prenyl (decaprenyl) diphosphate synthase, subunit 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000358027
InnateDB Gene IDBG-94918 (PDSS2)
Protein Structure
UniProt Annotation
Function Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. {ECO:0000269PubMed:16262699}.
Subcellular Localization Mitochondrion {ECO:0000305}.
Disease Associations Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652]: A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269PubMed:17186472}. 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 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000010 trans-hexaprenyltranstransferase activity
GO:0046982 protein heterodimerization activity
Biological Process
GO:0006744 ubiquinone biosynthetic process
GO:0008299 isoprenoid biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR000092 Polyprenyl synthetase
IPR008949 Terpenoid synthase
PFAM PF00348
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86YH6
PhosphoSite PhosphoSite-Q86YH6
TrEMBL
UniProt Splice Variant
Entrez Gene 57107
UniGene Hs.743404
RefSeq
HUGO HGNC:23041
OMIM 610564
CCDS
HPRD 12879
IMGT
EMBL AB210839 AF254956 AL121957 AL355586 AL590489 AL591516 BC029491 BC039906
GenPept AAF97788 AAH29491 AAH39906 BAE48217 CAH73572 CAH73573 CAI16109 CAI22355 CAI22356 CAI40036

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca