LOCUS       NM_001206641            1741 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor 6 (COA6),
            transcript variant 2, mRNA.
ACCESSION   NM_001206641 XM_005273123
VERSION     NM_001206641.3
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 1741)
  AUTHORS   Luo,H. and Wang,Z.
  TITLE     Pan-cancer analysis reveals potential immunological and prognostic
            roles of COA6 in human cancers and preliminary exploration of COA6
            in bladder cancer
  JOURNAL   Cell Signal 117, 111111 (2024)
   PUBMED   38395184
  REMARK    GeneRIF: Pan-cancer analysis reveals potential immunological and
            prognostic roles of COA6 in human cancers and preliminary
            exploration of COA6 in bladder cancer.
REFERENCE   2  (bases 1 to 1741)
  AUTHORS   Zhang,M., Liao,X., Ji,G., Fan,X. and Wu,Q.
  TITLE     High Expression of COA6 Is Related to Unfavorable Prognosis and
            Enhanced Oxidative Phosphorylation in Lung Adenocarcinoma
  JOURNAL   Int J Mol Sci 24 (6), 5705 (2023)
   PUBMED   36982777
  REMARK    GeneRIF: High Expression of COA6 Is Related to Unfavorable
            Prognosis and Enhanced Oxidative Phosphorylation in Lung
            Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1741)
  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   4  (bases 1 to 1741)
  AUTHORS   Maghool,S., Ryan,M.T. and Maher,M.J.
  TITLE     What Role Does COA6 Play in Cytochrome C Oxidase Biogenesis: A
            Metallochaperone or Thiol Oxidoreductase, or Both?
  JOURNAL   Int J Mol Sci 21 (19), 6983 (2020)
   PUBMED   32977416
  REMARK    GeneRIF: What Role Does COA6 Play in Cytochrome C Oxidase
            Biogenesis: A Metallochaperone or Thiol Oxidoreductase, or Both?
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1741)
  AUTHORS   Ghosh,A., Trivedi,P.P., Timbalia,S.A., Griffin,A.T., Rahn,J.J.,
            Chan,S.S. and Gohil,V.M.
  TITLE     Copper supplementation restores cytochrome c oxidase assembly
            defect in a mitochondrial disease model of COA6 deficiency
  JOURNAL   Hum Mol Genet 23 (13), 3596-3606 (2014)
   PUBMED   24549041
REFERENCE   6  (bases 1 to 1741)
  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: COX assembly candidate, ortholog of fungal YMR244C-A
            GeneRIF: Co-purified with C7orf44 (the human ortholog of fungal COX
            assembly protein)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1741)
  AUTHORS   Calvo,S.E., Compton,A.G., Hershman,S.G., Lim,S.C., Lieber,D.S.,
            Tucker,E.J., Laskowski,A., Garone,C., Liu,S., Jaffe,D.B.,
            Christodoulou,J., Fletcher,J.M., Bruno,D.L., Goldblatt,J.,
            Dimauro,S., Thorburn,D.R. and Mootha,V.K.
  TITLE     Molecular diagnosis of infantile mitochondrial disease with
            targeted next-generation sequencing
  JOURNAL   Sci Transl Med 4 (118), 118ra10 (2012)
   PUBMED   22277967
  REMARK    GeneRIF: Strong candidate gene for mitochondrial disease, based on
            recessive mutations detected in infantile patients
REFERENCE   8  (bases 1 to 1741)
  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   9  (bases 1 to 1741)
  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
REFERENCE   10 (bases 1 to 1741)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY169996.1, BC035925.1,
            BG204581.1 and AL355472.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001206641.2.
            
            Summary: This gene encodes a member of the cytochrome c oxidase
            subunit 6B family. The encoded protein associates with cytochrome c
            oxidase may act has an cytochrome c oxidase mitochondrial
            respiratory complex VI assembly factor. Mutations in this gene may
            be associated with fatal infantile cardiomyopathy. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Sep 2014].
            
            Transcript Variant: This variant (2) uses an alternate 5' most exon
            which results in the use of an alternate AUG, compared to variant
            1. The resulting isoform (2) has a distinct and longer N-terminus,
            compared to isoform 1.
            
            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 :: SRR1660809.123402.1,
                                           SRR1660805.77765.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366615.10/ ENSP00000355574.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                HY169996.1         23-100
            79-708              BC035925.1         11-640
            709-710             BG204581.1         487-488
            711-1741            AL355472.19        56336-57366
FEATURES             Location/Qualifiers
     source          1..1741
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     gene            1..1741
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
                     /note="cytochrome c oxidase assembly factor 6"
                     /db_xref="GeneID:388753"
                     /db_xref="HGNC:HGNC:18025"
                     /db_xref="MIM:614772"
     exon            1..223
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..479
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cytochrome c oxidase assembly factor 6 homolog"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly factor 6 homolog
                     isoform 2"
                     /protein_id="NP_001193570.2"
                     /db_xref="CCDS:CCDS76275.1"
                     /db_xref="GeneID:388753"
                     /db_xref="HGNC:HGNC:18025"
                     /db_xref="MIM:614772"
                     /translation="MVARKGQKSPRFRRVSCFLRLGRSTLLELEPAGRPCSGRTRHRA
                     LHRRLVACVTVSSRRHRKEAGRGRAESFIAVGMAAPSMKERQVCWGARDEYWKCLDEN
                     LEDASQCKKLRSSFESSCPQQWIKYFDKRRDYLKFKEKFEAGQFEPSETTAKS"
     exon            224..383
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
                     /inference="alignment:Splign:2.1.0"
     exon            384..1741
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      685..690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
                     /note="hexamer: AGTAAA"
     polyA_site      706
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
                     /note="major polyA site"
     regulatory      1709..1714
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
                     /note="hexamer: ACTAAA"
     polyA_site      1741
                     /gene="COA6"
                     /gene_synonym="C1orf31; CEMCOX4; MC4DN13"
ORIGIN      
        1 atggaaagta aatggtagct cggaagggtc aaaagagtcc gcggtttcgc cgcgtgagtt
       61 gctttttgcg gctggggagg tctacgcttc tagagcttga gccagcgggg cgaccctgca
      121 gtggcaggac tcggcaccgc gccctccacc gccggttggt ggcctgcgtg acagtttcct
      181 cccgtcgaca tcgaaaggaa gccggacgtg ggcgggcaga gagcttcatc gcagtaggaa
      241 tggcagcccc atctatgaag gaaagacagg tctgctgggg ggcccgggat gagtactgga
      301 agtgtttaga tgagaactta gaggatgctt ctcaatgcaa gaagttaaga agctctttcg
      361 aatcaagttg tccccaacag tggataaaat attttgataa aagaagagac tacttaaaat
      421 tcaaagaaaa atttgaagca ggacaatttg agccttcaga aacaactgca aaatcctagg
      481 ctgttcataa agattgaaag tattctttct ggacattgaa aaagctccac tgactatgga
      541 acagtaatag tttgaatcat agtgaacatc aatacttgtt ccctatatac gacacttgat
      601 aattaagatg atcaagaacc agaagatctg tgaagaaatg aaataaaatg gtatttagta
      661 agaaatctct attttaagaa aaaaagtaaa acctgttata aacacatgca cttttgtttt
      721 gtttttgttt tgtttttaat tagaggatgg gtagtaggca gatgataaaa tttataatat
      781 acatagaagt gaaataaatg ggagttagca ttttaataca ggcaagagct attacaacaa
      841 cccaagtgag aaatgatgag ggtttgtgga aggtttataa ggaagaaggg tgaacttaaa
      901 atatacaagt aaaataataa aagccatcta taaaaaagcc catagctaat atcaacactt
      961 aatgttggga caggaactgg atgtctagct agtccagtga gacaaaaaag aaaaagcata
     1021 cacactggga aggaagaaag aaaactagct ctactcacat ataataaata ctatcttata
     1081 gaatgtacca atggatgcac aaaaagagct cctagaacta taagtcaatc atagaaaggt
     1141 tgcaggaaac aaggtcaata tacacaagga aaattatatt cctatatatc agcaataaac
     1201 aactggaatt taaaacttaa aaataccatt tgtgaatagc accaaaaaaa attaaaggaa
     1261 tacttaggta taaatctaat atatggaggc ctctatgctg agaactagaa aacacttgga
     1321 agcagactac atcagattaa atggagaggt atacagttgg ccctctgtgg gttctgcatc
     1381 catggattca accccgaaga gaaaattttt gggaaaagga aaaacgagta aaaataataa
     1441 aaatttaaaa atccagtata acacctattt acattgtatt aggtattgta agtcattgag
     1501 atgatttaaa gtataggcat acctcaaaga tactgcaggt ttggttacag accactgcat
     1561 taaagtgaat atcacaatag agtgggttac acaaatgttt tggttttcca gtacacatag
     1621 aagttatgtt tatactgttg tctagtaagt gtgcaatagc attatgtctg ctcagtatat
     1681 atgccttcat tttaaaatac tttttattac taaaaaatgc taaagattct ctgagtcttc
     1741 a
//
