LOCUS       NM_001370595            1234 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor 8 (COA8),
            transcript variant 1, mRNA.
ACCESSION   NM_001370595 NM_032374
VERSION     NM_001370595.2
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 1234)
  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 1234)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1234)
  AUTHORS   Brischigliaro,M., Corra,S., Tregnago,C., Fernandez-Vizarra,E.,
            Zeviani,M., Costa,R. and De Pitta,C.
  TITLE     Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency,
            Neuromuscular Impairment, and Reduced Resistance to Oxidative
            Stress in Drosophila melanogaster
  JOURNAL   Front Physiol 10, 1143 (2019)
   PUBMED   31555154
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1234)
  AUTHORS   Signes,A., Cerutti,R., Dickson,A.S., Beninca,C., Hinchy,E.C.,
            Ghezzi,D., Carrozzo,R., Bertini,E., Murphy,M.P., Nathan,J.A.,
            Viscomi,C., Fernandez-Vizarra,E. and Zeviani,M.
  TITLE     APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS
            and ROS
  JOURNAL   EMBO Mol Med 11 (1) (2019)
   PUBMED   30552096
REFERENCE   5  (bases 1 to 1234)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 1234)
  AUTHORS   Melchionda,L., Haack,T.B., Hardy,S., Abbink,T.E.,
            Fernandez-Vizarra,E., Lamantea,E., Marchet,S., Morandi,L.,
            Moggio,M., Carrozzo,R., Torraco,A., Diodato,D., Strom,T.M.,
            Meitinger,T., Tekturk,P., Yapici,Z., Al-Murshedi,F., Stevens,R.,
            Rodenburg,R.J., Lamperti,C., Ardissone,A., Moroni,I., Uziel,G.,
            Prokisch,H., Taylor,R.W., Bertini,E., van der Knaap,M.S., Ghezzi,D.
            and Zeviani,M.
  TITLE     Mutations in APOPT1, encoding a mitochondrial protein, cause
            cavitating leukoencephalopathy with cytochrome c oxidase deficiency
  JOURNAL   Am J Hum Genet 95 (3), 315-325 (2014)
   PUBMED   25175347
  REMARK    GeneRIF: Mutations in APOPT1, encoding a mitochondrial protein,
            cause cavitating leukoencephalopathy with cytochrome c oxidase
            deficiency.
REFERENCE   7  (bases 1 to 1234)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   8  (bases 1 to 1234)
  AUTHORS   Sun,X., Yasuda,O., Takemura,Y., Kawamoto,H., Higuchi,M., Baba,Y.,
            Katsuya,T., Fukuo,K., Ogihara,T. and Rakugi,H.
  TITLE     Akt activation prevents Apop-1-induced death of cells
  JOURNAL   Biochem Biophys Res Commun 377 (4), 1097-1101 (2008)
   PUBMED   18977203
REFERENCE   9  (bases 1 to 1234)
  AUTHORS   Yasuda,O., Fukuo,K., Sun,X., Nishitani,M., Yotsui,T., Higuchi,M.,
            Suzuki,T., Rakugi,H., Smithies,O., Maeda,N. and Ogihara,T.
  TITLE     Apop-1, a novel protein inducing cyclophilin D-dependent but
            Bax/Bak-related channel-independent apoptosis
  JOURNAL   J Biol Chem 281 (33), 23899-23907 (2006)
   PUBMED   16782708
REFERENCE   10 (bases 1 to 1234)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139300.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 14, 2020 this sequence version replaced NM_001370595.1.
            
            Summary: This gene encodes a protein that localizes to the
            mitochondria, where it stimulates the release of cytochrome c,
            thereby promoting programmed cell death. Mutations in this gene
            have been found in individuals with mitochondrial complex IV
            deficiency. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Nov 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC007412.2, AK223103.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG   :: upstream AUG and CDS
                                                  extension is not conserved
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000409074.8/
                                                  ENSP00000386485.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-165               AL139300.6         118210-118374       c
            166-363             AL139300.6         109514-109711       c
            364-427             AL139300.6         107164-107227       c
            428-518             AL139300.6         93970-94060         c
            519-1234            AL139300.6         90438-91153         c
FEATURES             Location/Qualifiers
     source          1..1234
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     gene            1..1234
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /note="cytochrome c oxidase assembly factor 8"
                     /db_xref="GeneID:84334"
                     /db_xref="HGNC:HGNC:20492"
                     /db_xref="MIM:616003"
     exon            1..165
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..624
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0671 protein C14orf153; apoptogenic 1, mitochondrial"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly factor 8 isoform
                     1"
                     /protein_id="NP_001357524.1"
                     /db_xref="CCDS:CCDS9983.3"
                     /db_xref="GeneID:84334"
                     /db_xref="HGNC:HGNC:20492"
                     /db_xref="MIM:616003"
                     /translation="MVVLRAGKKTFLPPLCRAFACRGCQLAPERGAERRDTAPSGVSR
                     FCPPRKSCHDWIGPPDKYSNLRPVHFYIPENESPLEQKLRKLRQETQEWNQQFWANQN
                     LTFSKEKEEFIHSRLKTKGLGLRTESGQKATLNAEEMADFYKEFLSKNFQKHMYYNRD
                     WYKRNFAITFFMGKVALERIWNKLKQKQKKRSN"
     exon            166..363
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            364..427
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            428..518
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            519..1234
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      846..851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /note="hexamer: AATAAA"
     polyA_site      865
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /note="major polyA site"
     regulatory      1213..1218
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
                     /note="hexamer: AATAAA"
     polyA_site      1234
                     /gene="COA8"
                     /gene_synonym="APOP; APOP1; APOPT1; C14orf153; MC4DN17"
ORIGIN      
        1 gcaatgctgc cgtgcgccgc gggagccagg gggcgtgggg ccatggtggt cttgcgggcg
       61 gggaagaaga cctttctccc ccctctctgc cgcgccttcg cctgccgcgg ctgtcaactc
      121 gctccggagc gcggcgccga gcgcagggat acggcgccca gcggggtctc aagattctgc
      181 cctccaagaa agtcttgcca tgattggata ggacccccag ataaatattc aaaccttcga
      241 cctgttcact tttacatacc tgaaaatgaa tctccattgg aacaaaagct tagaaaatta
      301 agacaagaaa cacaagaatg gaatcaacag ttctgggcaa accagaattt gacttttagt
      361 aaggaaaaag aagaatttat tcactcaaga ctaaaaacta aaggcctggg cctgagaact
      421 gaatcaggtc agaaagcaac attgaatgca gaagaaatgg cggacttcta caaggaattt
      481 ttaagtaaaa attttcagaa gcacatgtat tataacagag attggtacaa gcgcaatttt
      541 gccatcacct tcttcatggg aaaagtggcc ctggaaagga tttggaacaa gcttaaacag
      601 aaacaaaaga agaggagcaa ctaggagtcc actctgaccc agccagagtc caggtttcca
      661 caggaagcag atggagctcc tttcacaggg gctctgagaa aaactggagc tgatctcaag
      721 aagccccaca tcttcctaag gggccccatg gcctgtttgg gggcagggta ggtcctgggg
      781 cactgtgggc cgcctgcctg ctgatgtggg ctctaggcca gcttgttgtc acgtacgtgg
      841 tgtgaaataa agcccaagca ctgggtgccc gtttcctgtg tttcgaatta taccaattca
      901 aaacagaact atttaaaaat attggccagg cacggtggct cacacctgta atcccagcac
      961 tttgggaggc cgaggcgggt ggatcacttg agatcaggag ttcaagatca gtctggacaa
     1021 catggcaaaa ccctgtctct acaaaaaatt agctgggtgt ggtggcacgc acctgtaatc
     1081 ccagctgctc tggaggctga ggcatgcgac gcttgaaccc aggaggcgga ggttgcagtg
     1141 atccaagatc gcaccactgc actccagcct ggaagaccaa acgagactct gtatcaaaaa
     1201 ataataataa ttaataaagt tttactggaa aaaa
//
