MGP Database

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MGP005595

UniProt Annotations

Entry Information
Gene Nameprenyl (decaprenyl) diphosphate synthase, subunit 2
Protein EntryDLP1_HUMAN
UniProt IDQ86YH6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86YH6-1; Sequence=Displayed; Name=2; IsoId=Q86YH6-2; Sequence=VSP_017098, VSP_017099;
Catalytic Activity(2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate = 7 diphosphate + all-trans-decaprenyl diphosphate. {ECO:0000269|PubMed:16262699}.
DiseaseCoenzyme 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:0000269|PubMed:17186472}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSupplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. {ECO:0000269|PubMed:16262699}.
PathwayCofactor biosynthesis; ubiquinone biosynthesis.
Sequence CautionSequence=AAH29491.1; Type=Frameshift; Positions=28; Evidence={ECO:0000305}; Sequence=CAH73572.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22355.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the FPP/GGPP synthase family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000305}.
SubunitHeterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits. {ECO:0000269|PubMed:16262699}.
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