LOCUS       NM_001321979            1667 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens decaprenyl diphosphate synthase subunit 1 (PDSS1),
            transcript variant 3, mRNA.
ACCESSION   NM_001321979 XM_005252439
VERSION     NM_001321979.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1667)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1667)
  AUTHORS   Yu,T.J., Liu,Y.Y., Li,X.G., Lian,B., Lu,X.X., Jin,X., Shao,Z.M.,
            Hu,X., Di,G.H. and Jiang,Y.Z.
  TITLE     PDSS1-Mediated Activation of CAMK2A-STAT3 Signaling Promotes
            Metastasis in Triple-Negative Breast Cancer
  JOURNAL   Cancer Res 81 (21), 5491-5505 (2021)
   PUBMED   34408002
  REMARK    GeneRIF: PDSS1-Mediated Activation of CAMK2A-STAT3 Signaling
            Promotes Metastasis in Triple-Negative Breast Cancer.
REFERENCE   3  (bases 1 to 1667)
  AUTHORS   Nardecchia,F., De Giorgi,A., Palombo,F., Fiorini,C., De Negri,A.M.,
            Carelli,V., Caporali,L. and Leuzzi,V.
  TITLE     Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic
            atrophy and sensorineural deafness
  JOURNAL   Ann Clin Transl Neurol 8 (1), 247-251 (2021)
   PUBMED   33285023
  REMARK    GeneRIF: Missense PDSS1 mutations in CoenzymeQ10 synthesis cause
            optic atrophy and sensorineural deafness.
REFERENCE   4  (bases 1 to 1667)
  AUTHORS   Dai,W., Liu,H., Chen,K., Xu,X., Qian,D., Luo,S., Amos,C.I.,
            Lee,J.E., Li,X., Nan,H., Li,C. and Wei,Q.
  TITLE     Genetic variants in PDSS1 and SLC16A6 of the ketone body metabolic
            pathway predict cutaneous melanoma-specific survival
  JOURNAL   Mol Carcinog 59 (6), 640-650 (2020)
   PUBMED   32232919
  REMARK    GeneRIF: Genetic variants in PDSS1 and SLC16A6 of the ketone body
            metabolic pathway predict cutaneous melanoma-specific survival.
REFERENCE   5  (bases 1 to 1667)
  AUTHORS   Rotig,A., Appelkvist,E.L., Geromel,V., Chretien,D., Kadhom,N.,
            Edery,P., Lebideau,M., Dallner,G., Munnich,A., Ernster,L. and
            Rustin,P.
  TITLE     Quinone-responsive multiple respiratory-chain dysfunction due to
            widespread coenzyme Q10 deficiency
  JOURNAL   Lancet 356 (9227), 391-395 (2000)
   PUBMED   10972372
REFERENCE   6  (bases 1 to 1667)
  AUTHORS   Runquist,M., Ericsson,J., Thelin,A., Chojnacki,T. and Dallner,G.
  TITLE     Isoprenoid biosynthesis in rat liver mitochondria. Studies on
            farnesyl pyrophosphate synthase and trans-prenyltransferase
  JOURNAL   J Biol Chem 269 (8), 5804-5809 (1994)
   PUBMED   8119922
REFERENCE   7  (bases 1 to 1667)
  AUTHORS   Appelkvist,E.L., Aberg,F., Guan,Z., Parmryd,I. and Dallner,G.
  TITLE     Regulation of coenzyme Q biosynthesis
  JOURNAL   Mol Aspects Med 15 Suppl, s37-s46 (1994)
   PUBMED   7752843
  REMARK    Review article
REFERENCE   8  (bases 1 to 1667)
  AUTHORS   Teclebrhan,H., Olsson,J., Swiezewska,E. and Dallner,G.
  TITLE     Biosynthesis of the side chain of
            ubiquinone:trans-prenyltransferase in rat liver microsomes
  JOURNAL   J Biol Chem 268 (31), 23081-23086 (1993)
   PUBMED   8226825
REFERENCE   9  (bases 1 to 1667)
  AUTHORS   Salviati,L., Trevisson,E., Agosto,C., Doimo,M. and Navas,P.
  TITLE     Primary Coenzyme Q10 Deficiency Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28125198
REFERENCE   10 (bases 1 to 1667)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL390961.17.
            
            On Aug 13, 2020 this sequence version replaced NM_001321979.1.
            
            Summary: 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.
            Defects in this gene are a cause of coenzyme Q10 deficiency.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.419121.1,
                                           SRR14038197.472189.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-140               AL390961.17        86659-86798
            141-173             AL390961.17        91120-91152
            174-238             AL390961.17        93635-93699
            239-347             AL390961.17        94244-94352
            348-478             AL390961.17        98596-98726
            479-703             AL390961.17        109093-109317
            704-815             AL390961.17        112764-112875
            816-925             AL390961.17        112972-113081
            926-1006            AL390961.17        124198-124278
            1007-1120           AL390961.17        124424-124537
            1121-1201           AL390961.17        131455-131535
            1202-1667           AL390961.17        135291-135756
FEATURES             Location/Qualifiers
     source          1..1667
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..1667
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /note="decaprenyl diphosphate synthase subunit 1"
                     /db_xref="GeneID:23590"
                     /db_xref="HGNC:HGNC:17759"
                     /db_xref="MIM:607429"
     exon            1..140
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            141..173
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            174..238
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            239..347
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            348..478
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            479..703
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     CDS             605..1342
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /EC_number="2.5.1.91"
                     /note="isoform 3 is encoded by transcript variant 3;
                     polyprenyl pyrophosphate synthetase; coenzyme Q1 homolog;
                     subunit 1 of decaprenyl diphosphate synthase;
                     trans-prenyltransferase (TPT); decaprenyl pyrophosphate
                     synthase subunit 1; trans-prenyltransferase 1;
                     all-trans-decaprenyl-diphosphate synthase subunit 1;
                     prenyl (decaprenyl) diphosphate synthase, subunit 1;
                     solanesyl-diphosphate synthase subunit 1; all
                     trans-polyprenyl-diphosphate synthase PDSS1"
                     /codon_start=1
                     /product="all trans-polyprenyl-diphosphate synthase PDSS1
                     isoform 3"
                     /protein_id="NP_001308908.1"
                     /db_xref="GeneID:23590"
                     /db_xref="HGNC:HGNC:17759"
                     /db_xref="MIM:607429"
                     /translation="MIHTASLVHDDVIDDASSRRGKHTVNKIWGEKKAVLAGDLILSA
                     ASIALARIGNTTVISILTQVIEDLVRGEFLQLGSKENENERFAHYLEKTFKKTASLIA
                     NSCKAVSVLGCPDPVVHEIAYQYGKNVGIAFQLIDDVLDFTSCSDQMGKPTSADLKLG
                     LATGPVLFACQQFPEMNAMIMRRFSLPGDVDRARQYVLQSDGVQQTTYLAQQYCHEAI
                     REISKLRPSPERDALIQLSEIVLTRDK"
     exon            704..815
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            816..925
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1006
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1120
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1201
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1667
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1641..1646
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /note="hexamer: AATAAA"
     polyA_site      1667
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /note="major polyA site"
ORIGIN      
        1 agactccgac catggcctcg cgctggtggc ggtggcggcg cggctgctcc tggaagccgg
       61 cggcgcggag ccccgggccc ggctcccccg gccgtgcggg accgttgggg ccgagcgccg
      121 ctgccgaagt ccgcgcgcag gttcataggc ggaagggact tgacttgtct cagataccct
      181 atattaatct tgtgaagcat ttaacatctg cctgtccaaa tgtatgtcgt atatcacggt
      241 ttcatcacac aaccccagac agtaaaacac acagtggtga aaaatacacc gatcctttca
      301 aactcggttg gagagacttg aaaggtctgt atgaggacat tagaaaggaa ctgcttatat
      361 caacatcaga acttaaggaa atgtctgagt actactttga tgggaaaggg aaagcctttc
      421 gaccaattat tgtggcgcta atggcccgag catgcaatat tcatcataac aactcccgat
      481 ccgatgtcca gttttcacaa gctgattgct gagaaggttc taggcggcgt ctgttaaaaa
      541 gcattgcttt ctgttaatta gacatgtgca agccagccag cgcgccatag ccttaattgc
      601 agaaatgatc cacactgcta gtctggttca cgatgacgtt attgacgatg caagttctcg
      661 aagaggaaaa cacacagtta ataagatctg gggtgaaaag aaggctgttc ttgctggaga
      721 tttaattctt tctgcagcat ctatagctct ggcacgaatt ggaaatacaa ctgttatatc
      781 tattttaacc caagttattg aagatttggt gcgtggtgaa tttcttcagc tcgggtcaaa
      841 agaaaatgag aatgaaagat ttgcacacta ccttgagaag acattcaaga agaccgccag
      901 cctgatagcc aacagttgta aagcagtctc tgttctagga tgtcccgacc cagtggtgca
      961 tgagatcgcc tatcagtacg gaaaaaatgt aggaatagct tttcagctaa tagatgatgt
     1021 attggacttc acctcgtgtt ctgaccagat gggcaaacca acatcagctg atctgaagct
     1081 cgggttagcc actggtcctg tcctgtttgc ctgtcagcag ttcccagaaa tgaatgctat
     1141 gatcatgcga cggttcagtt tgcctggaga tgtagacaga gctcgacagt atgtactaca
     1201 gagtgatggt gtgcaacaaa caacctacct cgcccagcag tactgccatg aagcaataag
     1261 agagatcagt aaacttcgac catccccaga aagagatgcc ctcattcagc tttcagaaat
     1321 tgtactcaca agagataaat gacaactctt tctgttcttt ctggcagcta tcttaccaga
     1381 ctgtgcctaa agaattttgt ggaatacact ttgtttgctt catgtgcaga taaccaaaaa
     1441 tcattttaaa agatatcaaa cttattgatg ggcaatttat ttttttttat tgcaaaagtt
     1501 ttttcagaaa actttttaaa tgtaattaat aaaccacctg aatctgtcat tctagtccta
     1561 taaattataa tcaaggtatc ttgatggtta tatgtggtat tgtttacact gttaatatcc
     1621 acatgtaagg ccattacaca aataaataac caatgttaaa attcaaa
//
