LOCUS       NM_005138                984 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens synthesis of cytochrome C oxidase 2 (SCO2), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005138
VERSION     NM_005138.3
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 984)
  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 984)
  AUTHORS   Mondal,P., Gadad,S.S., Adhikari,S., Ramos,E.I., Sen,S., Prasad,P.
            and Das,C.
  TITLE     TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for
            mitochondrial energy metabolism and stress adaptation
  JOURNAL   FASEB J 35 (9), e21814 (2021)
   PUBMED   34369624
  REMARK    GeneRIF: TCF19 and p53 regulate transcription of TIGAR and SCO2 in
            HCC for mitochondrial energy metabolism and stress adaptation.
REFERENCE   3  (bases 1 to 984)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 984)
  AUTHORS   Kallianpur,K.J., Walker,M., Gerschenson,M., Shikuma,C.M.,
            Gangcuangco,L.M.A., Kohorn,L., Libutti,D.E., Nir,T.M.,
            Jahanshad,N., Thompson,P.M. and Paul,R.
  TITLE     Systemic Mitochondrial Oxidative Phosphorylation Protein Levels
            Correlate with Neuroimaging Measures in Chronically HIV-Infected
            Individuals
  JOURNAL   AIDS Res Hum Retroviruses 36 (1), 83-91 (2020)
   PUBMED   31617381
  REMARK    GeneRIF: Systemic Mitochondrial Oxidative Phosphorylation Protein
            Levels Correlate with Neuroimaging Measures in Chronically
            HIV-Infected Individuals.
            Erratum:[AIDS Res Hum Retroviruses. 2020 Dec;36(12):1083. doi:
            10.1089/aid.2019.0240.correx.. PMID: 33264061]
REFERENCE   5  (bases 1 to 984)
  AUTHORS   Liu,J., Lu,F., Gong,Y., Zhao,C., Pan,Q., Ballantyne,S., Zhao,X.,
            Tian,S. and Chen,H.
  TITLE     High expression of synthesis of cytochrome c oxidase 2 and
            TP53-induced glycolysis and apoptosis regulator can predict poor
            prognosis in human lung adenocarcinoma
  JOURNAL   Hum Pathol 77, 54-62 (2018)
   PUBMED   29634976
  REMARK    GeneRIF: High expression of synthesis of cytochrome c oxidase 2 and
            TP53-induced glycolysis and apoptosis regulator can predict poor
            prognosis in human lung adenocarcinoma
REFERENCE   6  (bases 1 to 984)
  AUTHORS   Jaksch,M., Ogilvie,I., Yao,J., Kortenhaus,G., Bresser,H.G.,
            Gerbitz,K.D. and Shoubridge,E.A.
  TITLE     Mutations in SCO2 are associated with a distinct form of
            hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
  JOURNAL   Hum Mol Genet 9 (5), 795-801 (2000)
   PUBMED   10749987
REFERENCE   7  (bases 1 to 984)
  AUTHORS   Papadopoulou,L.C., Sue,C.M., Davidson,M.M., Tanji,K., Nishino,I.,
            Sadlock,J.E., Krishna,S., Walker,W., Selby,J., Glerum,D.M.,
            Coster,R.V., Lyon,G., Scalais,E., Lebel,R., Kaplan,P., Shanske,S.,
            De Vivo,D.C., Bonilla,E., Hirano,M., DiMauro,S. and Schon,E.A.
  TITLE     Fatal infantile cardioencephalomyopathy with COX deficiency and
            mutations in SCO2, a COX assembly gene
  JOURNAL   Nat Genet 23 (3), 333-337 (1999)
   PUBMED   10545952
REFERENCE   8  (bases 1 to 984)
  AUTHORS   Loftus,B.J., Kim,U.J., Sneddon,V.P., Kalush,F., Brandon,R.,
            Fuhrmann,J., Mason,T., Crosby,M.L., Barnstead,M., Cronin,L.,
            Deslattes Mays,A., Cao,Y., Xu,R.X., Kang,H.L., Mitchell,S.,
            Eichler,E.E., Harris,P.C., Venter,J.C. and Adams,M.D.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
REFERENCE   9  (bases 1 to 984)
  AUTHORS   Paret,C., Ostermann,K., Krause-Buchholz,U., Rentzsch,A. and
            Rodel,G.
  TITLE     Human members of the SCO1 gene family: complementation analysis in
            yeast and intracellular localization
  JOURNAL   FEBS Lett 447 (1), 65-70 (1999)
   PUBMED   10218584
REFERENCE   10 (bases 1 to 984)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ878572.1, CN409692.1,
            BC102025.1 and AL021683.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_005138.2.
            
            Summary: Cytochrome c oxidase (COX) catalyzes the transfer of
            electrons from cytochrome c to molecular oxygen, which helps to
            maintain the proton gradient across the inner mitochondrial
            membrane that is necessary for aerobic ATP production. Human COX is
            a multimeric protein complex that requires several assembly
            factors; this gene encodes one of the COX assembly factors. The
            encoded protein is a metallochaperone that is involved in the
            biogenesis of cytochrome c oxidase subunit II. Mutations in this
            gene are associated with fatal infantile encephalocardiomyopathy
            and myopia 6. [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript. Variants 1, 2, 3 and 4 encode the same protein.
            
            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 :: AL021683.1, BG762508.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10218584
            MANE Ensembl match                 :: ENST00000395693.8/
                                                  ENSP00000379046.4
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                BQ878572.1         8-33
            27-65               CN409692.1         2-40
            66-978              BC102025.1         1-913
            979-984             AL021683.1         924-929
FEATURES             Location/Qualifiers
     source          1..984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..984
                     /gene="SCO2"
                     /gene_synonym="CEMCOX1; ECGF1; Gliostatin; MC4DN2; MYP6;
                     PD-ECGF; SCO1L; TdRPase; TP; TYMP"
                     /note="synthesis of cytochrome C oxidase 2"
                     /db_xref="GeneID:9997"
                     /db_xref="HGNC:HGNC:10604"
                     /db_xref="MIM:604272"
     exon            1..127
                     /gene="SCO2"
                     /gene_synonym="CEMCOX1; ECGF1; Gliostatin; MC4DN2; MYP6;
                     PD-ECGF; SCO1L; TdRPase; TP; TYMP"
                     /inference="alignment:Splign:2.1.0"
     exon            128..984
                     /gene="SCO2"
                     /gene_synonym="CEMCOX1; ECGF1; Gliostatin; MC4DN2; MYP6;
                     PD-ECGF; SCO1L; TdRPase; TP; TYMP"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..941
                     /gene="SCO2"
                     /gene_synonym="CEMCOX1; ECGF1; Gliostatin; MC4DN2; MYP6;
                     PD-ECGF; SCO1L; TdRPase; TP; TYMP"
                     /EC_number="2.4.2.4"
                     /note="protein SCO2 homolog, mitochondrial; SCO cytochrome
                     oxidase deficient homolog 2; SCO2, cytochrome c oxidase
                     assembly protein; Thymidine phosphorylase;
                     Platelet-derived endothelial cell growth factor; SCO
                     cytochrome c oxidase assembly protein 2"
                     /codon_start=1
                     /product="protein SCO2 homolog, mitochondrial precursor"
                     /protein_id="NP_005129.2"
                     /db_xref="CCDS:CCDS14095.1"
                     /db_xref="GeneID:9997"
                     /db_xref="HGNC:HGNC:10604"
                     /db_xref="MIM:604272"
                     /translation="MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPA
                     ETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRAEKERLQQQKRTEALRQAAVGQG
                     DFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPV
                     QPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQ
                     DYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS"
     regulatory      965..970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCO2"
                     /gene_synonym="CEMCOX1; ECGF1; Gliostatin; MC4DN2; MYP6;
                     PD-ECGF; SCO1L; TdRPase; TP; TYMP"
                     /note="hexamer: ATTAAA"
     polyA_site      984
                     /gene="SCO2"
                     /gene_synonym="CEMCOX1; ECGF1; Gliostatin; MC4DN2; MYP6;
                     PD-ECGF; SCO1L; TdRPase; TP; TYMP"
                     /note="major polyA site"
ORIGIN      
        1 gacgcctgcg ccctgcctgt gagcgtgtgg cgcccgcttt ccctgagccg gcggggcaga
       61 gcgcagggag ctggaggtcg gcgcttcctc tcgtgcttgg tccactgacg cgcggccccg
      121 ccgcgaggag catcagatcc atgctgctgc tgactcggag ccccacagct tggcacaggc
      181 tctctcagct caagcctcgg gtcctccctg ggaccctggg aggccaggcc ctgcatctga
      241 ggtcctggct tttgtcaagg cagggccctg cagagacagg tgggcagggc cagccccagg
      301 gccctgggct tcgaacccgg ctgctgatca caggcctgtt cggggctgga ctcggtgggg
      361 cctggctggc cctgagggct gagaaggaga ggctgcagca gcaaaagcga acagaagccc
      421 tgcgccaggc agctgtgggc cagggcgact tccacctgct ggatcacaga ggccgggctc
      481 gctgcaaggc tgacttccgg ggccagtggg tgctgatgta ctttggcttc actcactgcc
      541 ctgacatctg cccagacgag ctggagaagc tggtgcaggt ggtgcggcag ctggaagcag
      601 agcctggttt gcctccagtg cagcctgtct tcatcactgt ggaccccgag cgggacgacg
      661 ttgaagccat ggcccgctac gtccaggact tccacccaag actgttgggt ctgaccggct
      721 ccaccaaaca ggttgcccag gctagtcaca gttaccgcgt gtactacaat gcaggcccca
      781 aggatgagga ccaggactac atcgtggacc actccattgc catctacctg ctcaaccctg
      841 acggcctctt cacggattac tacggccgga gcagatcggc tgagcagatc tcagacagtg
      901 tgcggcggca catggcggct ttccgcagtg tcctgtcttg agccactgca gtctgggccc
      961 catcattaaa cgggctgcgt ttaa
//
