InnateDB Protein
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IDBP-94920.6
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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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PDSS2
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Protein Name
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prenyl (decaprenyl) diphosphate synthase, subunit 2
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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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ENSP00000358033
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InnateDB Gene
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IDBG-94918 (PDSS2)
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Protein Structure
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Function |
Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. {ECO:0000269PubMed:16262699}.
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Subcellular Localization |
Mitochondrion {ECO:0000305}.
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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.
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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 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
1
[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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Molecular Function |
Accession |
GO Term |
GO:0000010
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trans-hexaprenyltranstransferase activity
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GO:0046982
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protein heterodimerization activity
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GO:0050347
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trans-octaprenyltranstransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000092
Polyprenyl synthetase
IPR008949
Terpenoid synthase
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PFAM |
PF00348
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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 |
Q86YH6
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PhosphoSite |
PhosphoSite-Q86YH6
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TrEMBL |
B4DWD3
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UniProt Splice Variant |
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Entrez Gene |
57107
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UniGene |
Hs.743404
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RefSeq |
NP_065114
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HUGO |
HGNC:23041
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OMIM |
610564
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CCDS |
CCDS5059
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HPRD |
12879
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IMGT |
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EMBL |
AB210839
AF254956
AK301480
AL121957
AL355586
AL590489
AL591516
BC029491
BC039906
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GenPept |
AAF97788
AAH29491
AAH39906
BAE48217
BAG62995
CAH73572
CAH73573
CAI16109
CAI22355
CAI22356
CAI40036
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