LOCUS       NP_065114                399 aa            linear   PRI 08-OCT-2024
DEFINITION  all trans-polyprenyl-diphosphate synthase PDSS2 [Homo sapiens].
ACCESSION   NP_065114
VERSION     NP_065114.3
DBSOURCE    REFSEQ: accession NM_020381.4
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  (residues 1 to 399)
  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  (residues 1 to 399)
  AUTHORS   Yang,K., Song,H. and Yin,D.
  TITLE     PDSS2 Inhibits the Ferroptosis of Vascular Endothelial Cells in
            Atherosclerosis by Activating Nrf2
  JOURNAL   J Cardiovasc Pharmacol 77 (6), 767-776 (2021)
   PUBMED   33929387
  REMARK    GeneRIF: PDSS2 Inhibits the Ferroptosis of Vascular Endothelial
            Cells in Atherosclerosis by Activating Nrf2.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 399)
  AUTHORS   Zeng,T., Tang,Z., Liang,L., Suo,D., Li,L., Li,J., Yuan,Y.,
            Guan,X.Y. and Li,Y.
  TITLE     PDSS2-Del2, a new variant of PDSS2, promotes tumor cell metastasis
            and angiogenesis in hepatocellular carcinoma via activating
            NF-kappaB
  JOURNAL   Mol Oncol 14 (12), 3184-3197 (2020)
   PUBMED   33064899
  REMARK    GeneRIF: PDSS2-Del2, a new variant of PDSS2, promotes tumor cell
            metastasis and angiogenesis in hepatocellular carcinoma via
            activating NF-kappaB.
REFERENCE   4  (residues 1 to 399)
  AUTHORS   Hu,L., Chen,Q., Wang,Y., Zhang,N., Meng,P., Liu,T. and Bu,Y.
  TITLE     Sp1 Mediates the Constitutive Expression and Repression of the
            PDSS2 Gene in Lung Cancer Cells
  JOURNAL   Genes (Basel) 10 (12), 977 (2019)
   PUBMED   31783675
  REMARK    GeneRIF: Study identified the promoter region of the PDSS2 gene for
            the first time and demonstrated that Sp1 transcription factor could
            directly regulate the transcription of PDSS2. Also, the expression
            of Sp1 and PDSS2 are negatively correlated, and higher Sp1
            expression with low PDSS2 expression is significantly associated
            with poor prognosis in lung cancer.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 399)
  AUTHORS   Vieira,A.R., McHenry,T.G., Daack-Hirsch,S., Murray,J.C. and
            Marazita,M.L.
  TITLE     Candidate gene/loci studies in cleft lip/palate and dental
            anomalies finds novel susceptibility genes for clefts
  JOURNAL   Genet Med 10 (9), 668-674 (2008)
   PUBMED   18978678
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 399)
  AUTHORS   Diomedi-Camassei,F., Di Giandomenico,S., Santorelli,F.M.,
            Caridi,G., Piemonte,F., Montini,G., Ghiggeri,G.M., Murer,L.,
            Barisoni,L., Pastore,A., Muda,A.O., Valente,M.L., Bertini,E. and
            Emma,F.
  TITLE     COQ2 nephropathy: a newly described inherited mitochondriopathy
            with primary renal involvement
  JOURNAL   J Am Soc Nephrol 18 (10), 2773-2780 (2007)
   PUBMED   17855635
REFERENCE   7  (residues 1 to 399)
  AUTHORS   Saiki,R., Nagata,A., Kainou,T., Matsuda,H. and Kawamukai,M.
  TITLE     Characterization of solanesyl and decaprenyl diphosphate synthases
            in mice and humans
  JOURNAL   FEBS J 272 (21), 5606-5622 (2005)
   PUBMED   16262699
  REMARK    GeneRIF: murine and human solanesyl and decaprenyl diphosphate
            synthases are heterotetramers composed of newly characterized hDPS1
            (mSPS1) and hDLP1 (mDLP1).
REFERENCE   8  (residues 1 to 399)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   9  (residues 1 to 399)
  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 (residues 1 to 399)
  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 DC341808.1, BC039906.1 and
            AL832290.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 13, 2008 this sequence version replaced NP_065114.2.
            
            Summary: The protein encoded by this gene is an enzyme that
            synthesizes 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. Defects in this
            gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq,
            Oct 2009].
            
            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 :: BC039906.1, SRR1803611.136125.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369037.9/ ENSP00000358033.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     Protein         1..399
                     /product="all trans-polyprenyl-diphosphate synthase PDSS2"
                     /EC_number="2.5.1.91"
                     /note="decaprenyl pyrophosphate synthetase subunit 2;
                     subunit 2 of decaprenyl diphosphate synthase; decaprenyl
                     pyrophosphate synthase subunit 2;
                     all-trans-decaprenyl-diphosphate synthase subunit 2;
                     prenyl (decaprenyl) diphosphate synthase, subunit 2;
                     solanesyl-diphosphate synthase subunit 2"
                     /calculated_mol_wt=43998
     Region          68..399
                     /region_name="Isoprenoid_Biosyn_C1"
                     /note="Isoprenoid Biosynthesis enzymes, Class 1; cl00210"
                     /db_xref="CDD:469660"
     Site            order(112,156,159..160,259,291..292,295,299,307)
                     /site_type="other"
                     /note="substrate binding pocket [chemical binding]"
                     /db_xref="CDD:173830"
     Site            order(295..300,305..307)
                     /site_type="other"
                     /note="aspartate-rich region 2"
                     /db_xref="CDD:173830"
     CDS             1..399
                     /gene="PDSS2"
                     /gene_synonym="bA59I9.3; C6orf210; COQ10D3; COQ1B; DLP1;
                     hDLP1"
                     /coded_by="NM_020381.4:280..1479"
                     /db_xref="CCDS:CCDS5059.1"
                     /db_xref="GeneID:57107"
                     /db_xref="HGNC:HGNC:23041"
                     /db_xref="MIM:610564"
ORIGIN      
        1 mnfrqlllhl prylgasgsp rrlwwspsld tissvgswrg rsskspahwn qvvseaekiv
       61 gyptsfmslr cllsdelsni amqvrklvgt qhpllttarg lvhdswnslq lrglvvllis
      121 kaagpssvnt scqnydmvsg iyscqrslae itelihiall vhrgivnlne lqssdgplkd
      181 mqfgnkiail sgdfllanac nglallqntk vvellasalm dlvqgvyhen stskesyitd
      241 digistwkeq tflshgalla kscqaamela khdaevqnma fqygkhmams hkinsdvqpf
      301 ikektsdsmt fnlnsapvvl hqeflgrdlw ikqigeaqek grldyaklre rikagkgvts
      361 aidlcryhgn kalealesfp psearsalen ivfavtrfs
//
