LOCUS       NM_016468               1669 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor COX16 (COX16),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016468
VERSION     NM_016468.7
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 1669)
  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 1669)
  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   3  (bases 1 to 1669)
  AUTHORS   Cerqua,C., Morbidoni,V., Desbats,M.A., Doimo,M., Frasson,C.,
            Sacconi,S., Baldoin,M.C., Sartori,G., Basso,G., Salviati,L. and
            Trevisson,E.
  TITLE     COX16 is required for assembly of cytochrome c oxidase in human
            cells and is involved in copper delivery to COX2
  JOURNAL   Biochim Biophys Acta Bioenerg 1859 (4), 244-252 (2018)
   PUBMED   29355485
  REMARK    GeneRIF: COX16 is required for assembly of cytochrome C oxidase in
            human cells and is involved in copper delivery to COX2.
REFERENCE   4  (bases 1 to 1669)
  AUTHORS   Aich,A., Wang,C., Chowdhury,A., Ronsor,C., Pacheu-Grau,D.,
            Richter-Dennerlein,R., Dennerlein,S. and Rehling,P.
  TITLE     COX16 promotes COX2 metallation and assembly during respiratory
            complex IV biogenesis
  JOURNAL   Elife 7, e32572 (2018)
   PUBMED   29381136
  REMARK    GeneRIF: Here, the authors find that COX16, a protein required for
            cytochrome c oxidase assembly, interacts specifically with newly
            synthesized COX2 and its copper center-forming metallochaperones
            SCO1, SCO2, and COA6. The recruitment of SCO1 to the COX2-module is
            COX16- dependent and patient-mimicking mutations in SCO1 affect
            interaction with COX16.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1669)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (bases 1 to 1669)
  AUTHORS   Tay,S.K., Nesti,C., Mancuso,M., Schon,E.A., Shanske,S., Bonilla,E.,
            Davidson,M.M. and Dimauro,S.
  TITLE     Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase
            deficiency
  JOURNAL   Arch Neurol 61 (12), 1935-1937 (2004)
   PUBMED   15596615
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            FJ460510.1 and AW088547.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016468.6.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.795790.1, FJ460510.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000389912.7/
                                                  ENSP00000374562.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1668              FJ460510.1         49-1716
            1669-1669           AW088547.1         8-8                 c
FEATURES             Location/Qualifiers
     source          1..1669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.2"
     gene            1..1669
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /note="cytochrome c oxidase assembly factor COX16"
                     /db_xref="GeneID:51241"
                     /db_xref="HGNC:HGNC:20213"
                     /db_xref="MIM:618064"
     exon            1..165
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..417
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cytochrome c oxidase assembly protein COX16
                     homolog, mitochondrial; COX16, cytochrome c oxidase
                     assembly homolog"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly protein COX16
                     homolog, mitochondrial isoform 1 precursor"
                     /protein_id="NP_057552.1"
                     /db_xref="CCDS:CCDS9802.1"
                     /db_xref="GeneID:51241"
                     /db_xref="HGNC:HGNC:20213"
                     /db_xref="MIM:618064"
                     /translation="MFAPAVMRAFRKNKTLGYGVPMLLLIVGGSFGLREFSQIRYDAV
                     KSKMDPELEKKLKENKISLESEYEKIKDSKFDDWKNIRGPRPWEDPDLLQGRNPESLK
                     TKTT"
     exon            166..237
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /inference="alignment:Splign:2.1.0"
     exon            238..300
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /inference="alignment:Splign:2.1.0"
     exon            301..1669
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      654..659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /note="hexamer: AATAAA"
     polyA_site      682
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /note="major polyA site"
     regulatory      1648..1653
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
                     /note="hexamer: AATAAA"
     polyA_site      1669
                     /gene="COX16"
                     /gene_synonym="C14orf112; hCOX16; HSPC203; MC4DN22"
ORIGIN      
        1 aaggacgtac tcgtcttggt gagagcgtga gctgctgaga tttgggagtc tgcgctaggc
       61 ccgcttggag ttctgagccg atggaagagt tcactcatgt ttgcacccgc ggtgatgcgt
      121 gcttttcgca agaacaagac tctcggctat ggagtcccca tgttgttgct gattgttgga
      181 ggttcttttg gtcttcgtga gttttctcaa atccgatatg atgctgtgaa gagtaaaatg
      241 gatcctgagc ttgaaaaaaa actgaaagag aataaaatat ctttagagtc ggaatatgag
      301 aaaatcaaag actccaagtt tgatgactgg aagaatattc gaggacccag gccttgggaa
      361 gatcctgacc tcctccaagg aagaaatcca gaaagcctta agactaagac aacttgactc
      421 tgctgattct tttttccttt tttttttttt taaataaaaa tattattaac tggacttcct
      481 aatatatact tctatcaagt ggaaaggaaa ttccaggccc atggaaactt ggatatgggt
      541 aatttgatga caaataatct tcactaaagg tcatgtacag gtttttatac ttcccagcta
      601 ttccatctgt ggatgaaagt aacaatgttg gccacgtata ttttacacct cgaaataaaa
      661 aatgtgaata ctgctccaaa aacagagtca cgtattccac tctccaacta cccacatatt
      721 ccttttgcaa tagccattag ggcatcattt tgatatttca ttctgatttc tgattctctg
      781 atttctgatt cctaatgagg acagtaggtc tggatccaaa ttctcacagt aaaatcaagc
      841 agtaattttc tctcatatct attagggaaa gaaaaatgat cacagtctgc taagagtctt
      901 gattttcttt gtaatgcctc acatagtatg ataatcagtc tccaaagcat cacatgataa
      961 ttacaatgat accattaaca tgtcaaggaa attatattat ttatggttgt caaaaattat
     1021 gaagtagtgt atgattataa gcagatatgg caaatttgtt cagtaaatcc atagatgact
     1081 acattttgag aaatactaag ataatactaa aaattatgcc ttagcataat ttgcatgcaa
     1141 aattgccctc tagtgttttt gttttgtttt gagacatagt ctcgctctgt tcgcccaggc
     1201 tggagtgcag gggcacgatc tctgctcact gcaagctctg cttcccgggt tcacaccatt
     1261 ctcctgcctc agcatcctga gtagctggga ctacaggcac atgctgtcac acccggctaa
     1321 ttttttgtat ttagtagaga tggggtttca ccacgttagc caggatggtc tccatctcct
     1381 gaccttgtga tccgcccacc tcggcctcac aaattgctgg gattacaggt gtgagccacc
     1441 acgcctggcc gaaagttagt tgttttgaac tcattttctc ctttttaccc ctgcctttat
     1501 cagcttctac cttctggttt catgctgagt tctagttgcc taaagtctcc attgaaacac
     1561 tcctgttata attgccataa aatcataaat ccactccccc tttctcctcc tagtcaaaat
     1621 ttgtattctt ttcagcaggt tggttttaat aaaaagtaaa ttaagttga
//
