LOCUS       NM_001040431             780 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor 3 (COA3), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001040431 XR_000542 XR_000628
VERSION     NM_001040431.3
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 780)
  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 780)
  AUTHORS   Neira,J.L., Martinez-Rodriguez,S., Hernandez-Cifre,J.G.,
            Camara-Artigas,A., Clemente,P., Peralta,S., Fernandez-Moreno,M.A.,
            Garesse,R., Garcia de la Torre,J. and Rizzuti,B.
  TITLE     Human COA3 Is an Oligomeric Highly Flexible Protein in Solution
  JOURNAL   Biochemistry 55 (45), 6209-6220 (2016)
   PUBMED   27791355
  REMARK    GeneRIF: Data suggest that COX assembly factor 3 (hCOA3) is a
            disordered protein and that the flexibility of hCOA3 is crucial for
            its interaction with other proteins to favor mitochondrial protein
            translocation and assembly of proteins involved in the respiratory
            chain.
REFERENCE   3  (bases 1 to 780)
  AUTHORS   Ban-Ishihara,R., Tomohiro-Takamiya,S., Tani,M., Baudier,J.,
            Ishihara,N. and Kuge,O.
  TITLE     COX assembly factor ccdc56 regulates mitochondrial morphology by
            affecting mitochondrial recruitment of Drp1
  JOURNAL   FEBS Lett 589 (20 Pt B), 3126-3132 (2015)
   PUBMED   26358295
  REMARK    GeneRIF: Data show that mitochondrial protein ccdc56/MITRAC12/COA3
            positively regulates mitochondrial fission by recruiting the
            fission factor Drp1.
REFERENCE   4  (bases 1 to 780)
  AUTHORS   Dennerlein,S., Oeljeklaus,S., Jans,D., Hellwig,C., Bareth,B.,
            Jakobs,S., Deckers,M., Warscheid,B. and Rehling,P.
  TITLE     MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint
            during Cytochrome c Oxidase Assembly
  JOURNAL   Cell Rep 12 (10), 1644-1655 (2015)
   PUBMED   26321642
REFERENCE   5  (bases 1 to 780)
  AUTHORS   Ostergaard,E., Weraarpachai,W., Ravn,K., Born,A.P., Jonson,L.,
            Duno,M., Wibrand,F., Shoubridge,E.A. and Vissing,J.
  TITLE     Mutations in COA3 cause isolated complex IV deficiency associated
            with neuropathy, exercise intolerance, obesity, and short stature
  JOURNAL   J Med Genet 52 (3), 203-207 (2015)
   PUBMED   25604084
  REMARK    GeneRIF: COX14 was undetectable in COA3 subject fibroblasts, and
            that COA3 was undetectable in fibroblasts from a COX14 subject,
            demonstrating the interdependence of these two COX assembly factors
REFERENCE   6  (bases 1 to 780)
  AUTHORS   Clemente,P., Peralta,S., Cruz-Bermudez,A., Echevarria,L.,
            Fontanesi,F., Barrientos,A., Fernandez-Moreno,M.A. and Garesse,R.
  TITLE     hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes
            cytochrome c oxidase assembly in human mitochondria
  JOURNAL   J Biol Chem 288 (12), 8321-8331 (2013)
   PUBMED   23362268
  REMARK    GeneRIF: hCOA3 stabilizes COX1 co-translationally and promotes its
            assembly with COX partner subunits.
REFERENCE   7  (bases 1 to 780)
  AUTHORS   Mick,D.U., Dennerlein,S., Wiese,H., Reinhold,R., Pacheu-Grau,D.,
            Lorenzi,I., Sasarman,F., Weraarpachai,W., Shoubridge,E.A.,
            Warscheid,B. and Rehling,P.
  TITLE     MITRAC links mitochondrial protein translocation to
            respiratory-chain assembly and translational regulation
  JOURNAL   Cell 151 (7), 1528-1541 (2012)
   PUBMED   23260140
  REMARK    GeneRIF: Study comprehensively identified mammalian cytochrome c
            oxidase assembly factors. These analyses led to the discoveryof
            MITRAC12, which defines the MITRAC (mitochondrial translation
            regulation assembly intermediate of cytochrome c oxidase)complexes.
REFERENCE   8  (bases 1 to 780)
  AUTHORS   Peralta,S., Clemente,P., Sanchez-Martinez,A., Calleja,M.,
            Hernandez-Sierra,R., Matsushima,Y., Adan,C., Ugalde,C.,
            Fernandez-Moreno,M.A., Kaguni,L.S. and Garesse,R.
  TITLE     Coiled coil domain-containing protein 56 (CCDC56) is a novel
            mitochondrial protein essential for cytochrome c oxidase function
  JOURNAL   J Biol Chem 287 (29), 24174-24185 (2012)
   PUBMED   22610097
REFERENCE   9  (bases 1 to 780)
  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: Human ortholog of fungal COA3 (Cytochrome oxidase
            assembly)
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 780)
  AUTHORS   Rommens,J.M., Durocher,F., McArthur,J., Tonin,P., LeBlanc,J.F.,
            Allen,T., Samson,C., Ferri,L., Narod,S., Morgan,K. et al.
  TITLE     Generation of a transcription map at the HSD17B locus centromeric
            to BRCA1 at 17q21
  JOURNAL   Genomics 28 (3), 530-542 (1995)
   PUBMED   7490091
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL524532.3, BC002698.2 and
            AC016889.28.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001040431.2.
            
            Summary: This gene encodes a member of the cytochrome c oxidase
            assembly factor family. Studies of a related gene in fly suggest
            that the encoded protein is localized to mitochondria and is
            essential for cytochrome c oxidase function. [provided by RefSeq,
            Nov 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225611.1, SRR5189661.151737.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328434.8/ ENSP00000354762.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AL524532.3         22-39
            19-771              BC002698.2         1-753
            772-780             AC016889.28        63238-63246         c
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..780
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="cytochrome c oxidase assembly factor 3"
                     /db_xref="GeneID:28958"
                     /db_xref="HGNC:HGNC:24990"
                     /db_xref="MIM:614775"
     exon            1..237
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..344
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="coiled-coil domain-containing protein 56;
                     cytochrome c oxidase assembly protein 3 homolog,
                     mitochondrial; mitochondrial translation regulation
                     assembly intermediate of cytochrome c oxidase protein of
                     12 kDa"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly factor 3 homolog,
                     mitochondrial"
                     /protein_id="NP_001035521.1"
                     /db_xref="CCDS:CCDS32660.1"
                     /db_xref="GeneID:28958"
                     /db_xref="HGNC:HGNC:24990"
                     /db_xref="MIM:614775"
                     /translation="MASSGAGDPLDSKRGEAPFAQRIDPTREKLTPEQLHSMRQAELA
                     QWQKVLPRRRTRNIVTGLGIGALVLAIYGYTFYSISQERFLDELEDEAKAARARALAR
                     ASGS"
     exon            238..780
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      748..753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="hexamer: AATAAA"
     polyA_site      771
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="major polyA site"
ORIGIN      
        1 accgcgaagg gaggagtggc aacatggcgt cttcgggagc tggtgaccct ctggattcta
       61 agcgtggaga ggccccgttc gctcagcgta tcgacccgac tcgggagaag ctgacacccg
      121 agcaactgca ttccatgcgg caggcggagc ttgcccagtg gcagaaggtc ctaccacggc
      181 ggcgaacccg gaacatcgtg accggcctag gcatcggggc cctggtgttg gctatttatg
      241 gttacacctt ctactcgatt tcccaggagc gtttcctaga tgagctagaa gacgaggcca
      301 aagctgcccg agcccgagct ctggcaaggg cgtcagggtc ctaatctgga tgggtattga
      361 tcatgtccaa cctgctggag ccccttcaca tggtggatga tgccccatga ccctgtagaa
      421 attgaatcct gctcacaaca ttgttggcct tcttactaac cttggaccgt gattgagccc
      481 aagaaaccag ggacttacgc atttggccaa tgtcaaaaga acagaacttt gcccactgca
      541 cacttgctgt gtacaatgac tgagcccttt cttgtagttt gtttccttgt ttgagaggtg
      601 tgcatgcgac cgtggctttt cccaaagttt ctgactttgt ggtttacccc cttcaccttc
      661 cagggacgca gttgttacga ggttagacgt ggcagctctg tgcagtgttt gagcctacag
      721 tgggatacat agggtcaaat tgagaataat aaactgagtc attctcctgg agtcaagtga
//
