LOCUS       NM_014317               1584 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens decaprenyl diphosphate synthase subunit 1 (PDSS1),
            transcript variant 1, mRNA.
ACCESSION   NM_014317
VERSION     NM_014317.5
KEYWORDS    RefSeq; MANE Select.
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 1584)
  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 1584)
  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 1584)
  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 1584)
  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 1584)
  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 1584)
  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 1584)
  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 1584)
  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 1584)
  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 1584)
  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 AK024802.1 and BC049211.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014317.4.
            
            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 :: AB210838.1, AK024802.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376215.10/ ENSP00000365388.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AK024802.1         43-55
            14-1584             BC049211.1         1-1571
FEATURES             Location/Qualifiers
     source          1..1584
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..1584
                     /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"
     CDS             12..1259
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /EC_number="2.5.1.91"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_055132.2"
                     /db_xref="CCDS:CCDS31168.1"
                     /db_xref="GeneID:23590"
                     /db_xref="HGNC:HGNC:17759"
                     /db_xref="MIM:607429"
                     /translation="MASRWWRWRRGCSWKPAARSPGPGSPGRAGPLGPSAAAEVRAQV
                     HRRKGLDLSQIPYINLVKHLTSACPNVCRISRFHHTTPDSKTHSGEKYTDPFKLGWRD
                     LKGLYEDIRKELLISTSELKEMSEYYFDGKGKAFRPIIVALMARACNIHHNNSRHVQA
                     SQRAIALIAEMIHTASLVHDDVIDDASSRRGKHTVNKIWGEKKAVLAGDLILSAASIA
                     LARIGNTTVISILTQVIEDLVRGEFLQLGSKENENERFAHYLEKTFKKTASLIANSCK
                     AVSVLGCPDPVVHEIAYQYGKNVGIAFQLIDDVLDFTSCSDQMGKPTSADLKLGLATG
                     PVLFACQQFPEMNAMIMRRFSLPGDVDRARQYVLQSDGVQQTTYLAQQYCHEAIREIS
                     KLRPSPERDALIQLSEIVLTRDK"
     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..620
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            621..732
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            733..842
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            843..923
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1037
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1118
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1584
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1558..1563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDSS1"
                     /gene_synonym="COQ1; COQ10D2; COQ1A; DPS; hDPS1; SPS;
                     TPRT; TPT; TPT 1"
                     /note="hexamer: AATAAA"
     polyA_site      1584
                     /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 aactcccgac
      481 atgtgcaagc cagccagcgc gccatagcct taattgcaga aatgatccac actgctagtc
      541 tggttcacga tgacgttatt gacgatgcaa gttctcgaag aggaaaacac acagttaata
      601 agatctgggg tgaaaagaag gctgttcttg ctggagattt aattctttct gcagcatcta
      661 tagctctggc acgaattgga aatacaactg ttatatctat tttaacccaa gttattgaag
      721 atttggtgcg tggtgaattt cttcagctcg ggtcaaaaga aaatgagaat gaaagatttg
      781 cacactacct tgagaagaca ttcaagaaga ccgccagcct gatagccaac agttgtaaag
      841 cagtctctgt tctaggatgt cccgacccag tggtgcatga gatcgcctat cagtacggaa
      901 aaaatgtagg aatagctttt cagctaatag atgatgtatt ggacttcacc tcgtgttctg
      961 accagatggg caaaccaaca tcagctgatc tgaagctcgg gttagccact ggtcctgtcc
     1021 tgtttgcctg tcagcagttc ccagaaatga atgctatgat catgcgacgg ttcagtttgc
     1081 ctggagatgt agacagagct cgacagtatg tactacagag tgatggtgtg caacaaacaa
     1141 cctacctcgc ccagcagtac tgccatgaag caataagaga gatcagtaaa cttcgaccat
     1201 ccccagaaag agatgccctc attcagcttt cagaaattgt actcacaaga gataaatgac
     1261 aactctttct gttctttctg gcagctatct taccagactg tgcctaaaga attttgtgga
     1321 atacactttg tttgcttcat gtgcagataa ccaaaaatca ttttaaaaga tatcaaactt
     1381 attgatgggc aatttatttt tttttattgc aaaagttttt tcagaaaact ttttaaatgt
     1441 aattaataaa ccacctgaat ctgtcattct agtcctataa attataatca aggtatcttg
     1501 atggttatat gtggtattgt ttacactgtt aatatccaca tgtaaggcca ttacacaaat
     1561 aaataaccaa tgttaaaatt caaa
//
