PDSS1

PDSS1
Identifiers
Aliases	PDSS1 , COQ1, COQ10D2, DPS, SPS, TPRT, TPT, TPT 1, hDPS1, prenyl (decaprenyl) diphosphate synthase, subunit 1, decaprenyl diphosphate synthase subunit 1, COQ1A
External IDs	OMIM: 607429; MGI: 1889278; HomoloGene: 5353; GeneCards: PDSS1; OMA:PDSS1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10p12.1 Start 26,697,701 bp [1] End 26,746,798 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 A3 Start 22,785,534 bp [2] End 22,830,278 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon rectum jejunal mucosa duodenum monocyte testicle cerebellar hemisphere gonad mucosa of ileum right hemisphere of cerebellum Top expressed in Paneth cell proximal tubule right kidney otic placode otic vesicle saccule soleus muscle duodenum jejunum embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding protein heterodimerization activity trans-hexaprenyltranstransferase activity transferase activity Cellular component mitochondrial matrix mitochondrion transferase complex Biological process isoprenoid biosynthetic process protein heterotetramerization ubiquinone biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23590 56075 Ensembl ENSG00000148459 ENSMUSG00000026784 UniProt Q5T2R2 Q33DR2 RefSeq (mRNA) NM_014317 NM_001321978 NM_001321979 NM_019501 NM_001355467 RefSeq (protein) NP_001308907 NP_001308908 NP_055132 NP_062374 NP_001342396 Location (UCSC) Chr 10: 26.7 – 26.75 Mb Chr 2: 22.79 – 22.83 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Decaprenyl-diphosphate synthase subunit 1 is an enzyme that in humans is encoded by the PDSS1 gene. ^{[5] [6]}

The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000148459 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026784 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Rotig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, Edery P, Lebideau M, Dallner G, Munnich A, Ernster L, Rustin P (Sep 2000). "Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency". Lancet. 356 (9227): 391–395. doi:10.1016/S0140-6736(00)02531-9. PMID   10972372. S2CID   27320145.
6. "Entrez Gene: PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1".

Further reading

• Appelkvist EL, Aberg F, Guan Z, et al. (1995). "Regulation of coenzyme Q biosynthesis". Mol. Aspects Med. 15 Suppl: s37–46. doi:10.1016/0098-2997(94)90011-6. PMID   7752843.
• Runquist M, Ericsson J, Thelin A, et al. (1994). "Isoprenoid biosynthesis in rat liver mitochondria. Studies on farnesyl pyrophosphate synthase and trans-prenyltransferase". J. Biol. Chem. 269 (8): 5804–9. doi: 10.1016/S0021-9258(17)37533-6 . PMID   8119922.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Teclebrhan H, Olsson J, Swiezewska E, Dallner G (1993). "Biosynthesis of the side chain of ubiquinone:trans-prenyltransferase in rat liver microsomes". J. Biol. Chem. 268 (31): 23081–6. doi: 10.1016/S0021-9258(19)49428-3 . PMID   8226825.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–381. Bibcode:2004Natur.429..375D. doi: 10.1038/nature02462 . PMID   15164054.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Saiki R, Nagata A, Kainou T, et al. (2005). "Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans". FEBS J. 272 (21): 5606–5622. doi: 10.1111/j.1742-4658.2005.04956.x . PMID   16262699. S2CID   13735213.
• Mollet J, Giurgea I, Schlemmer D, et al. (2007). "Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders". J. Clin. Invest. 117 (3): 765–772. doi:10.1172/JCI29089. PMC   1804361 . PMID   17332895.