LOCUS       NM_016360               1446 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens translational activator of cytochrome c oxidase I
            (TACO1), mRNA.
ACCESSION   NM_016360
VERSION     NM_016360.4
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 1446)
  AUTHORS   Brischigliaro,M., Kruger,A., Moran,J.C., Antonicka,H., Ahn,A.,
            Shoubridge,E.A., Rorbach,J. and Barrientos,A.
  TITLE     The human mitochondrial translation factor TACO1 alleviates
            mitoribosome stalling at polyproline stretches
  JOURNAL   Nucleic Acids Res 52 (16), 9710-9726 (2024)
   PUBMED   39036954
  REMARK    GeneRIF: The human mitochondrial translation factor TACO1
            alleviates mitoribosome stalling at polyproline stretches.
REFERENCE   2  (bases 1 to 1446)
  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   3  (bases 1 to 1446)
  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   4  (bases 1 to 1446)
  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   5  (bases 1 to 1446)
  AUTHORS   Seeger,J., Schrank,B., Pyle,A., Stucka,R., Lorcher,U.,
            Muller-Ziermann,S., Abicht,A., Czermin,B., Holinski-Feder,E.,
            Lochmuller,H. and Horvath,R.
  TITLE     Clinical and neuropathological findings in patients with TACO1
            mutations
  JOURNAL   Neuromuscul Disord 20 (11), 720-724 (2010)
   PUBMED   20727754
  REMARK    GeneRIF: report on clinical findings of patients with TACO1 gene
            mutation leading to cytochrome c oxidase deficiency.
REFERENCE   6  (bases 1 to 1446)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1446)
  AUTHORS   Weraarpachai,W., Antonicka,H., Sasarman,F., Seeger,J., Schrank,B.,
            Kolesar,J.E., Lochmuller,H., Chevrette,M., Kaufman,B.A., Horvath,R.
            and Shoubridge,E.A.
  TITLE     Mutation in TACO1, encoding a translational activator of COX I,
            results in cytochrome c oxidase deficiency and late-onset Leigh
            syndrome
  JOURNAL   Nat Genet 41 (7), 833-837 (2009)
   PUBMED   19503089
  REMARK    GeneRIF: Study identified a specific defect in the synthesis of the
            mitochondrial DNA-encoded COX I subunit in a pedigree segregating
            late-onset Leigh syndrome and cytochrome c oxidase (COX) deficiency
REFERENCE   8  (bases 1 to 1446)
  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 AK315375.1 and BC005049.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016360.3.
            
            Summary: This gene encodes a mitochondrial protein that function as
            a translational activator of mitochondrially-encoded cytochrome c
            oxidase 1. Mutations in this gene are associated with Leigh
            syndrome.[provided by RefSeq, Mar 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC005049.1, SRR3476690.844518.1
                                           [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. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000258975.7/
                                                  ENSP00000258975.6
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-122               AK315375.1         24-145
            123-1446            BC005049.1         134-1457
FEATURES             Location/Qualifiers
     source          1..1446
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..1446
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /note="translational activator of cytochrome c oxidase I"
                     /db_xref="GeneID:51204"
                     /db_xref="HGNC:HGNC:24316"
                     /db_xref="MIM:612958"
     exon            1..469
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..1083
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /note="clone HQ0477 PRO0477p; translational activator of
                     COX I; coiled-coil domain-containing protein 44;
                     translational activator of mitochondrially encoded
                     cytochrome c oxidase I"
                     /codon_start=1
                     /product="translational activator of cytochrome c oxidase
                     1"
                     /protein_id="NP_057444.2"
                     /db_xref="CCDS:CCDS11640.1"
                     /db_xref="GeneID:51204"
                     /db_xref="HGNC:HGNC:24316"
                     /db_xref="MIM:612958"
                     /translation="MSAWAAASLSRAAARCLLARGPGVRAAPPRDPRPSHPEPRGCGA
                     APGRTLHFTAAVPAGHNKWSKVRHIKGPKDVERSRIFSKLCLNIRLAVKEGGPNPEHN
                     SNLANILEVCRSKHMPKSTIETALKMEKSKDTYLLYEGRGPGGSSLLIEALSNSSHKC
                     QADIRHILNKNGGVMAVGARHSFDKKGVIVVEVEDREKKAVNLERALEMAIEAGAEDV
                     KETEDEEERNVFKFICDASSLHQVRKKLDSLGLCSVSCALEFIPNSKVQLAEPDLEQA
                     AHLIQALSNHEDVIHVYDNIE"
     exon            470..576
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /inference="alignment:Splign:2.1.0"
     exon            577..704
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /inference="alignment:Splign:2.1.0"
     exon            705..882
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1446
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1418..1423
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /note="hexamer: AATAAT"
     polyA_site      1446
                     /gene="TACO1"
                     /gene_synonym="CCDC44; MC4DN8"
                     /note="major polyA site"
ORIGIN      
        1 agtcccgggt gccgcgggga cagtgtaggg tcattagctg ttgagccgcc ccgggcgggc
       61 ccaagccttt ggatctcagg tgaccggcac aggcggccgc ggggtccgga actgcttgtt
      121 ccggcagtgg aagagacgcg ccggcgttgg ccgctgctgc tagcagcttg aaccccaggg
      181 tcgggaccga tgtcggcttg ggctgctgcc agcctaagca gggccgctgc ccgatgcttg
      241 ctggcacgag gccccggggt cagggcggct cctccgcgcg acccccggcc ctcccacccc
      301 gagccccggg gctgcggtgc cgctccgggc aggacgctgc actttaccgc ggctgtcccc
      361 gccgggcaca acaagtggtc caaagtcagg cacatcaagg gtccgaagga cgtcgaaagg
      421 agtcgcatct tctccaaact ctgtttgaac atccgcctgg cagtgaaaga aggaggcccc
      481 aaccctgagc acaacagcaa cctggccaat atcttagagg tgtgtcgcag caaacatatg
      541 cccaagtcaa cgattgagac agcactgaaa atggagaaat ccaaggacac ttatttgctg
      601 tatgagggtc gaggccctgg tggctcttct ctgctcatcg aggcattatc taacagtagc
      661 cacaagtgcc aagcagacat tagacatatc ctgaataaga atggaggagt gatggctgta
      721 ggagctcgtc actcttttga caaaaagggg gtgattgtgg ttgaagtgga ggacagagag
      781 aagaaggctg tgaacctaga gcgtgccctg gagatggcaa tcgaagcagg agctgaggat
      841 gtcaaggaaa ctgaagatga agaagaaagg aacgttttta aatttatttg tgatgcctct
      901 tcactgcacc aagtgaggaa gaagctggac tccctgggcc tgtgttctgt gtcctgtgca
      961 ctagagttca tccccaactc aaaggtgcag ctggctgagc ccgacctgga acaggccgca
     1021 catctcattc aggctctcag caaccacgag gatgtgattc acgtctatga taacattgaa
     1081 taaccaggct acatgtgccc ccgggttcct tcctagaaat gtggcagccc attccagcac
     1141 acaggcttct gcagcaatct ctgagggtaa agccggtggg aggctcagca ggccaggagg
     1201 cccaaggaca ggacttgcga ccttgaagcc aaaggaatct cacttgtggg gcctccttgt
     1261 cagctctgct gctgtctcag agccatctgg atgagtgtcc cgacaccctc tcggatgcag
     1321 ggcaggacca cccagctggt cagactctga tgttgggtag ctggcctctg tggggattgt
     1381 aagtgccctg aggcgctctg tactagaaac tgctcttaat aataacggtg attattggtt
     1441 gctgca
//
