LOCUS       NM_001008215            1770 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor 5 (COA5), mRNA.
ACCESSION   NM_001008215
VERSION     NM_001008215.3
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 1770)
  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 1770)
  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 1770)
  AUTHORS   Szklarczyk,R., Wanschers,B.F., Cuypers,T.D., Esseling,J.J.,
            Riemersma,M., van den Brand,M.A., Gloerich,J., Lasonder,E., van den
            Heuvel,L.P., Nijtmans,L.G. and Huynen,M.A.
  TITLE     Iterative orthology prediction uncovers new mitochondrial proteins
            and identifies C12orf62 as the human ortholog of COX14, a protein
            involved in the assembly of cytochrome c oxidase
  JOURNAL   Genome Biol 13 (2), R12 (2012)
   PUBMED   22356826
  REMARK    GeneRIF: Ortholog of fungal COX assembly protein PET191
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1770)
  AUTHORS   Huigsloot,M., Nijtmans,L.G., Szklarczyk,R., Baars,M.J., van den
            Brand,M.A., Hendriksfranssen,M.G., van den Heuvel,L.P.,
            Smeitink,J.A., Huynen,M.A. and Rodenburg,R.J.
  TITLE     A mutation in C2orf64 causes impaired cytochrome c oxidase assembly
            and mitochondrial cardiomyopathy
  JOURNAL   Am J Hum Genet 88 (4), 488-493 (2011)
   PUBMED   21457908
  REMARK    GeneRIF: C2orf64 is essential for complex IV assembly, and C2orf64
            mutational analysis should be considered for complex IV deficient
            patients, in particular those with hypertrophic cardiomyopathy
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK131034.1, BC047722.1,
            AI002968.1 and AC010134.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001008215.2.
            
            Summary: This gene encodes an ortholog of yeast Pet191, which in
            yeast is a subunit of a large oligomeric complex associated with
            the mitochondrial inner membrane, and required for the assembly of
            the cytochrome c oxidase complex. Mutations in this gene are
            associated with mitochondrial complex IV deficiency, a disorder of
            the mitochondrial respiratory chain with heterogeneous clinical
            manifestations, ranging from isolated myopathy to a severe disease
            affecting several tissues and organs. [provided by RefSeq, Dec
            2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.239150.1,
                                           SRR1660805.204594.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144, SAMEA2467146
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328709.8/ ENSP00000330730.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-607               AK131034.1         4-610
            608-1682            BC047722.1         588-1662
            1683-1761           AI002968.1         1-79                c
            1762-1770           AC010134.5         186087-186095       c
FEATURES             Location/Qualifiers
     source          1..1770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..1770
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="cytochrome c oxidase assembly factor 5"
                     /db_xref="GeneID:493753"
                     /db_xref="HGNC:HGNC:33848"
                     /db_xref="MIM:613920"
     exon            1..206
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..332
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="protein C2orf64"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly factor 5"
                     /protein_id="NP_001008216.1"
                     /db_xref="CCDS:CCDS33257.1"
                     /db_xref="GeneID:493753"
                     /db_xref="HGNC:HGNC:33848"
                     /db_xref="MIM:613920"
                     /translation="MPKYYEDKPQGGACAGLKEDLGACLLQSDCVVQEGKSPRQCLKE
                     GYCNSLKYAFFECKRSVLDNRARFRGRKGY"
     exon            207..290
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /inference="alignment:Splign:2.1.0"
     exon            291..1770
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /inference="alignment:Splign:2.1.0"
     regulatory      573..578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="hexamer: AATAAA"
     polyA_site      601
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="major polyA site"
     regulatory      1662..1667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="hexamer: AGTAAA"
     polyA_site      1682
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="major polyA site"
     regulatory      1686..1691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="hexamer: TATAAA"
     polyA_site      1710
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
     regulatory      1741..1746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="hexamer: AATACA"
     polyA_site      1770
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
ORIGIN      
        1 gccgctggct tccggtcccc tgagactggg gcctcgctcg ctcccgaccc ggttgcaagt
       61 gttgcggtgg gagaaagtcg cgtccgcatc ggaggggaag cgccgtcatg cctaagtatt
      121 atgaggacaa gccgcagggc ggcgcgtgcg cgggcctgaa ggaggacctg ggcgcgtgtc
      181 tgctgcagtc ggactgtgtg gtccaggaag gaaaatcacc tcggcagtgt ttgaaggaag
      241 gatactgcaa ctctttgaag tacgcatttt ttgagtgtaa aagatcagtg ttggataaca
      301 gggcaagatt cagaggaaga aaaggatatt gatgcattat gttgaagcca acatggaaaa
      361 caacaaatat tttccctggt cattaacaca aagaagccaa aacaggaaac atacttttta
      421 ctacatctgt ttggttggac cagatttccc ctccgtggaa cactgaagaa agtggatgag
      481 ttgttttcga atatgtataa agtaaatgat tctcttgatc caagttattt ttagaagaaa
      541 aacctaattg aacaggtatg ggttgggagc ataataaatg tgttttgaga attgttctaa
      601 agcacagaaa atggaaagac tgttatttgc aaacttgact cttcaattga attacccaat
      661 tagtacaggc cactgatttg actgacacag tcgataacat gcagcctatc cagaaggtgt
      721 ctgttgggaa agtttaggat aaaacttttt ctttagttca gtcttttcct gtctagttct
      781 aaaatgaatt gtgtttgatt ccttagagaa gaaatacttc atttgtgctc tgattcactg
      841 aagtaataac ctcagcactt taatagcgtc cacaggcata gctgatgcta ggccccagat
      901 tgtgttgccc aggctcttta ccatcatctt cggactgttt ttgtttcctg gttacatttt
      961 cagtctggcc cgctctacat aatgggccag tgtcagctcc aagtccacat ccttattatc
     1021 catgattcaa aagggagaga gagaacttcc tttttcaggg tccacaaatc aaatctataa
     1081 aaggactctg gtcttcccag gatcacctgc ccttgcattg gaccagtccc tgtggaagag
     1141 gggatggggg cctgtgatct tggccaggcc tgggctatct atctgcactg tcattgctaa
     1201 ctcctgtcag aatcacatgg atgagtagtg ggctgaatcc caaaaggaaa ggggtttaga
     1261 gcaagtggaa acaacagatg ttcactatag aaagcaagaa tgaaaaccat gaagtggttg
     1321 aagattagcc ttacagtaat tttattctga tcacttaata cagtagagtc aaacaggaat
     1381 ccaagtttcc aactttatta tttttggcac tgaagaatta caaagaactc tagcgtcttt
     1441 atacctccgt ggttcactgg agttaaagca atcggggcgt tgtacagctc acttgagttt
     1501 ttaaaggttc tactaaaaag tgagaattcc acagcaatat gggtcattgt tgcagaatat
     1561 cacaaaggtc tgttgtgtat actccttttc accaggaaag ggacaataat agtttttttc
     1621 aatgtatata tatataagtg atctaacttt ttattaataa aagtaaacaa ctctaaaatg
     1681 tatattataa agccctgtca tctttgttga gtaatagctt tattgagctt tatttggaga
     1741 aatacacata ccgtaaaatt cacactgaaa
//
