LOCUS       NM_005694                426 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase copper chaperone COX17 (COX17),
            transcript variant 2, mRNA.
ACCESSION   NM_005694
VERSION     NM_005694.2
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 426)
  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 426)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 426)
  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 426)
  AUTHORS   Liu,X., Salokas,K., Tamene,F., Jiu,Y., Weldatsadik,R.G., Ohman,T.
            and Varjosalo,M.
  TITLE     An AP-MS- and BioID-compatible MAC-tag enables comprehensive
            mapping of protein interactions and subcellular localizations
  JOURNAL   Nat Commun 9 (1), 1188 (2018)
   PUBMED   29568061
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 426)
  AUTHORS   Fraga,H., Pujols,J., Gil-Garcia,M., Roque,A.,
            Bernardo-Seisdedos,G., Santambrogio,C., Bech-Serra,J.J., Canals,F.,
            Bernado,P., Grandori,R., Millet,O. and Ventura,S.
  TITLE     Disulfide driven folding for a conditionally disordered protein
  JOURNAL   Sci Rep 7 (1), 16994 (2017)
   PUBMED   29208936
  REMARK    GeneRIF: characterize the disorder-to-order transition of a Mia40
            substrate, the human small copper chaperone Cox17
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 426)
  AUTHORS   Heaton,D.N., George,G.N., Garrison,G. and Winge,D.R.
  TITLE     The mitochondrial copper metallochaperone Cox17 exists as an
            oligomeric, polycopper complex
  JOURNAL   Biochemistry 40 (3), 743-751 (2001)
   PUBMED   11170391
REFERENCE   7  (bases 1 to 426)
  AUTHORS   Kako,K., Tsumori,K., Ohmasa,Y., Takahashi,Y. and Munekata,E.
  TITLE     The expression of Cox17p in rodent tissues and cells
  JOURNAL   Eur J Biochem 267 (22), 6699-6707 (2000)
   PUBMED   11054125
REFERENCE   8  (bases 1 to 426)
  AUTHORS   Horvath,R., Lochmuller,H., Stucka,R., Yao,J., Shoubridge,E.A.,
            Kim,S.H., Gerbitz,K.D. and Jaksch,M.
  TITLE     Characterization of human SCO1 and COX17 genes in mitochondrial
            cytochrome-c-oxidase deficiency
  JOURNAL   Biochem Biophys Res Commun 276 (2), 530-533 (2000)
   PUBMED   11027508
REFERENCE   9  (bases 1 to 426)
  AUTHORS   Punter,F.A., Adams,D.L. and Glerum,D.M.
  TITLE     Characterization and localization of human COX17, a gene involved
            in mitochondrial copper transport
  JOURNAL   Hum Genet 107 (1), 69-74 (2000)
   PUBMED   10982038
REFERENCE   10 (bases 1 to 426)
  AUTHORS   Amaravadi,R., Glerum,D.M. and Tzagoloff,A.
  TITLE     Isolation of a cDNA encoding the human homolog of COX17, a yeast
            gene essential for mitochondrial copper recruitment
  JOURNAL   Hum Genet 99 (3), 329-333 (1997)
   PUBMED   9050918
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023494.31.
            
            On Apr 22, 2020 this sequence version replaced NM_005694.1.
            
            Summary: Cytochrome c oxidase (COX), the terminal component of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. This component is a
            heteromeric complex consisting of 3 catalytic subunits encoded by
            mitochondrial genes and multiple structural subunits encoded by
            nuclear genes. The mitochondrially-encoded subunits function in
            electron transfer, and the nuclear-encoded subunits may function in
            the regulation and assembly of the complex. This nuclear gene
            encodes a protein which is not a structural subunit, but may be
            involved in the recruitment of copper to mitochondria for
            incorporation into the COX apoenzyme. This protein shares 92% amino
            acid sequence identity with mouse and rat Cox17 proteins. This gene
            is no longer considered to be a candidate gene for COX deficiency.
            A pseudogene COX17P has been found on chromosome 13. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2), as well as variant 3, encodes
            isoform b.
            
            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 :: BU935541.1, BC108317.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149876, SAMEA2154405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000261070.7/
                                                  ENSP00000261070.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-203               AC023494.31        21111-21313
            204-292             AC023494.31        23284-23372
            293-426             AC023494.31        28852-28985
FEATURES             Location/Qualifiers
     source          1..426
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..426
                     /gene="COX17"
                     /note="cytochrome c oxidase copper chaperone COX17"
                     /db_xref="GeneID:10063"
                     /db_xref="HGNC:HGNC:2264"
                     /db_xref="MIM:604813"
     exon            1..203
                     /gene="COX17"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..288
                     /gene="COX17"
                     /note="isoform b is encoded by transcript variant 2; human
                     homolog of yeast mitochondrial copper recruitment; COX17,
                     cytochrome c oxidase copper chaperone; COX17 cytochrome c
                     oxidase assembly homolog; cytochrome c oxidase assembly
                     homolog 17; cytochrome c oxidase 17 copper chaperone"
                     /codon_start=1
                     /product="cytochrome c oxidase copper chaperone isoform b"
                     /protein_id="NP_005685.1"
                     /db_xref="CCDS:CCDS2993.1"
                     /db_xref="GeneID:10063"
                     /db_xref="HGNC:HGNC:2264"
                     /db_xref="MIM:604813"
                     /translation="MPGLVDSNPAPPESQEKKPLKPCCACPETKKARDACIIEKGEEH
                     CGHLIEAHKECMRALGFKI"
     exon            204..292
                     /gene="COX17"
                     /inference="alignment:Splign:2.1.0"
     exon            293..426
                     /gene="COX17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      406..411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX17"
                     /note="hexamer: AGTAAA"
     polyA_site      426
                     /gene="COX17"
                     /note="major polyA site"
ORIGIN      
        1 agagcgactg ccggaagtga ctgcggacga atcggcgttt gccgaggctg gcatagattt
       61 ggctgtctcc gctcatagct gcttttggcg cgaaagatgc cgggtctggt tgactcaaac
      121 cctgccccgc ctgagtctca ggagaagaag ccgctgaagc cctgctgcgc ttgcccggag
      181 accaagaagg cgcgcgatgc gtgtatcatc gagaaaggag aagaacactg tggacatcta
      241 attgaggccc acaaggaatg catgagagcc ctaggattta aaatatgaaa tggtggtctg
      301 ctgtgtgaat aaataattcc tgaagaatga agaagattaa ttttgggagt tctttgacga
      361 actttgatat gtggaaaaag tatttataat ttattgtaag aagaaagtaa aatattacta
      421 gtggaa
//
