LOCUS       NM_023077               3988 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor 7 (COA7), mRNA.
ACCESSION   NM_023077
VERSION     NM_023077.3
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 3988)
  AUTHORS   Higuchi,Y., Ando,M., Kojima,F., Yuan,J., Hashiguchi,A.,
            Yoshimura,A., Hiramatsu,Y., Nozuma,S., Fukumura,S., Yahikozawa,H.,
            Abe,E., Toyoshima,I., Sugawara,M., Okamoto,Y., Matsuura,E. and
            Takashima,H.
  TITLE     Dystonia and Parkinsonism in COA7-related disorders: expanding the
            phenotypic spectrum
  JOURNAL   J Neurol 271 (1), 419-430 (2024)
   PUBMED   37750949
  REMARK    GeneRIF: Dystonia and Parkinsonism in COA7-related disorders:
            expanding the phenotypic spectrum.
REFERENCE   2  (bases 1 to 3988)
  AUTHORS   Formosa,L.E., Maghool,S., Sharpe,A.J., Reljic,B., Muellner-Wong,L.,
            Stroud,D.A., Ryan,M.T. and Maher,M.J.
  TITLE     Mitochondrial COA7 is a heme-binding protein with disulfide
            reductase activity, which acts in the early stages of complex IV
            assembly
  JOURNAL   Proc Natl Acad Sci U S A 119 (9) (2022)
   PUBMED   35210360
  REMARK    GeneRIF: Mitochondrial COA7 is a heme-binding protein with
            disulfide reductase activity, which acts in the early stages of
            complex IV assembly.
REFERENCE   3  (bases 1 to 3988)
  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 3988)
  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   5  (bases 1 to 3988)
  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   6  (bases 1 to 3988)
  AUTHORS   Mohanraj,K., Wasilewski,M., Beninca,C., Cysewski,D., Poznanski,J.,
            Sakowska,P., Bugajska,Z., Deckers,M., Dennerlein,S.,
            Fernandez-Vizarra,E., Rehling,P., Dadlez,M., Zeviani,M. and
            Chacinska,A.
  TITLE     Inhibition of proteasome rescues a pathogenic variant of
            respiratory chain assembly factor COA7
  JOURNAL   EMBO Mol Med 11 (5) (2019)
   PUBMED   30885959
  REMARK    GeneRIF: pathogenic mutant versions of COA7 are imported slower
            than the wild-type protein, and mislocalized proteins are degraded
            in the cytosol by the proteasome.
REFERENCE   7  (bases 1 to 3988)
  AUTHORS   Higuchi,Y., Okunushi,R., Hara,T., Hashiguchi,A., Yuan,J.,
            Yoshimura,A., Murayama,K., Ohtake,A., Ando,M., Hiramatsu,Y.,
            Ishihara,S., Tanabe,H., Okamoto,Y., Matsuura,E., Ueda,T., Toda,T.,
            Yamashita,S., Yamada,K., Koide,T., Yaguchi,H., Mitsui,J.,
            Ishiura,H., Yoshimura,J., Doi,K., Morishita,S., Sato,K.,
            Nakagawa,M., Yamaguchi,M., Tsuji,S. and Takashima,H.
  TITLE     Mutations in COA7 cause spinocerebellar ataxia with axonal
            neuropathy
  JOURNAL   Brain 141 (6), 1622-1636 (2018)
   PUBMED   29718187
  REMARK    GeneRIF: The results of this study suggest that loss-of-function
            COA7 mutation is responsible for the phenotype of the presented
            patients, and this new entity of disease would be referred to as
            spinocerebellar ataxia with axonal neuropathy type 3.
REFERENCE   8  (bases 1 to 3988)
  AUTHORS   Martinez Lyons,A., Ardissone,A., Reyes,A., Robinson,A.J.,
            Moroni,I., Ghezzi,D., Fernandez-Vizarra,E. and Zeviani,M.
  TITLE     COA7 (C1orf163/RESA1) mutations associated with mitochondrial
            leukoencephalopathy and cytochrome c oxidase deficiency
  JOURNAL   J Med Genet 53 (12), 846-849 (2016)
   PUBMED   27683825
  REMARK    GeneRIF: The first patient carrying pathogenic mutations of COA7,
            causative of isolated COX deficiency and progressive neurological
            impairment is reported. It is also shown that COA7 is a soluble
            protein localized to the matrix, rather than in the intermembrane
            space as previously suggested.
REFERENCE   9  (bases 1 to 3988)
  AUTHORS   Kozjak-Pavlovic,V., Prell,F., Thiede,B., Gotz,M., Wosiek,D., Ott,C.
            and Rudel,T.
  TITLE     C1orf163/RESA1 is a novel mitochondrial intermembrane space protein
            connected to respiratory chain assembly
  JOURNAL   J Mol Biol 426 (4), 908-920 (2014)
   PUBMED   24333015
  REMARK    GeneRIF: C1orf163 is a novel factor important for the assembly of
            respiratory chain complexes in human mitochondria.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK022501.1, BC015313.1 and AC099784.2.
            
            On Nov 22, 2018 this sequence version replaced NM_023077.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.7543.1,
                                           SRR1803616.55041.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371538.5/ ENSP00000360593.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-249               AK022501.1         20-268
            250-676             BC015313.1         235-661
            677-3988            AC099784.2         135750-139061
FEATURES             Location/Qualifiers
     source          1..3988
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..3988
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
                     /note="cytochrome c oxidase assembly factor 7"
                     /db_xref="GeneID:65260"
                     /db_xref="HGNC:HGNC:25716"
                     /db_xref="MIM:615623"
     exon            1..127
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..717
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
                     /note="hcp beta-lactamase-like protein C1orf163; sel1
                     repeat-containing protein 1; beta-lactamase hcp-like
                     protein; Sel1 repeat containing 1; respiratory chain
                     assembly 1; respiratory chain assembly factor 1;
                     epididymis secretory sperm binding protein; cytochrome c
                     oxidase assembly factor 7 (putative)"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly factor 7"
                     /protein_id="NP_075565.2"
                     /db_xref="CCDS:CCDS570.1"
                     /db_xref="GeneID:65260"
                     /db_xref="HGNC:HGNC:25716"
                     /db_xref="MIM:615623"
                     /translation="MAGMVDFQDEEQVKSFLENMEVECNYHCYHEKDPDGCYRLVDYL
                     EGIRKNFDEAAKVLKFNCEENQHSDSCYKLGAYYVTGKGGLTQDLKAAARCFLMACEK
                     PGKKSIAACHNVGLLAHDGQVNEDGQPDLGKARDYYTRACDGGYTSSCFNLSAMFLQG
                     APGFPKDMDLACKYSMKACDLGHIWACANASRMYKLGDGVDKDEAKAEVLKNRAQQLH
                     KEQQKGVQPLTFG"
     exon            128..268
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
                     /inference="alignment:Splign:2.1.0"
     exon            269..3988
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1578..1583
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
                     /note="hexamer: AATGAA"
     polyA_site      1600
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
     regulatory      3966..3971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
                     /note="hexamer: TATAAA"
     polyA_site      3988
                     /gene="COA7"
                     /gene_synonym="C1orf163; RESA1; SCAN3; SELRC1"
                     /note="major polyA site"
ORIGIN      
        1 gtctttgggc cggcgcgaac catggccggc atggtggact tccaggatga ggagcaggtc
       61 aagtcctttt tggagaacat ggaggtggag tgcaactacc actgctacca cgagaaggac
      121 ccggacggtt gctatcggct ggtggactat ttggaaggga tccggaagaa ttttgatgag
      181 gctgccaagg tgttgaagtt taactgtgaa gagaaccagc acagtgatag ctgctacaaa
      241 ctgggggcct actatgtgac tggaaaaggt ggtctgaccc aggacctgaa agctgccgcc
      301 aggtgctttt tgatggcgtg tgagaagcct ggaaagaagt caatagcagc atgtcacaac
      361 gttggcctcc tggcacatga tggacaggtt aatgaggatg gccagcctga cttgggaaag
      421 gccagggact actacacaag ggcctgtgat ggtggctata cttccagttg cttcaacctc
      481 agtgccatgt tcctgcaggg tgccccaggc tttcccaagg acatggacct ggcatgtaaa
      541 tactccatga aagcctgtga cctgggtcat atctgggcct gtgccaatgc cagtcgcatg
      601 tacaagctgg gggatggtgt tgataaggat gaggccaagg ccgaggtgct aaaaaatcga
      661 gcccagcagc tacacaaaga acagcagaaa ggtgtccaac ccttaacatt tgggtaatgt
      721 ggtccaccct ccctcccagg caacaaactg cttgaggctg gcagctcctg tttctgaaga
      781 ctgatgcagc ccttgaaggt caacctgctg gagcaaaaaa acttgggact tgaatttgta
      841 gctccattta catggatcca ttgccccagc tactggagta tagcctacaa tgtttatttc
      901 agtcaatatt cctttatctg ggtgttctgt acaatgttta ttacagtcaa tattccttca
      961 tctggatgtt ctgtgaagat agccatgttt atgggggtct tagttttcaa actctggcaa
     1021 ctctgtgaaa aataggagca aactagagag ccctggagat tggtagtagg gaagggagga
     1081 tagcaggaag tttgaaaaat tagcagcccc ggggcctaaa ggaatcagct gtcatcattt
     1141 tcatcattat tattttggtt aggatggctt gaaaatcaga acgtatcttg gtttacgtaa
     1201 ttgaggtctt aaagaactaa gaacagttaa atagtcacaa ctaccaccct ctgacttaca
     1261 taatcattgg tgtgggcttc gttttgcctt tagagtcaca tctttcagta aattcacaga
     1321 gatcaagagg gacgtgcaac atacagctta aaggctgtta tgcttcaggg ttgctgaaga
     1381 agatgaaaca tcagcctgcc atcgtctaga agagacattg gcagttaaaa attagcacct
     1441 ccagtgtagt cgcctggcac tgcccatcat gctgagggag cagattcttc ccaaggcagc
     1501 ttcagctagg agtttgtaag caaggacttt gtgacacatt tgtcccctgg aactgagcct
     1561 ttttaactgt ccctgtgaat gaacaatttt gagtgaccta cggtttgtgt taattagtgt
     1621 tctttccaga ttccaggtac cgtagagagt atgttctttg tggtggttgt gccttttaag
     1681 aacatttgtg gccgggcacg gtggctcacg cctgtaaccc cagcactttg ggtggccaag
     1741 gcgggtggat cacgagatca ggagatcatg accatcctgg ctaacacggg gaaaccccat
     1801 ctctactaaa aaatacaaaa aattagccgg gcgtggtggc aggcgcctgt agtcccagct
     1861 actggggagg ctgaggcagg agaattgctt gaacccggga ggcggagctt gcagtgagct
     1921 gagattgcgc cactgccctc cagcctgggc gatagagtga gactccgtct caaaaaaaaa
     1981 aaaaaatttg ctttttctgt tgtctcccca gcttgtcacc agggggcgag cttgccattt
     2041 ccctgctggt aacaatacca ttctgtcacc atctactgtt ttaggcttcc gttttgcagc
     2101 cgtcctgaaa ggaaggcttg ctgtgtaaat gaaggcttgt gagcacagca gccagcctct
     2161 caagttgata gaggacaggg acttccccaa gtgcacagag gagatttcaa aagacatcaa
     2221 attcactttt taaaaatgta aagtagcttt tggtgtgctt aaactaggtc aggccaggcg
     2281 tggtggctca tgcctgtaat cctagcattt tgggaggcca aggcaggtgg atcacttgag
     2341 gtcaggagtt cgagatcagc ctggccaaca tgacgaaacc cctttctcta ctaaaaatat
     2401 aaaaattagc tgggcgtggt gatgcatacc tgtaatccca gctacttcgg aggctgaggc
     2461 aggagaatca cttgaacctg ggaggcagag gttgcagtaa actgagactg tgccactgca
     2521 ctccagcctg ggcaacacag caagactctg tctcaaaaac aaaaacaaaa ctaggccagg
     2581 tgcagtggct cacgcttgca atcccagcac tttgggaggc cgaggcaggc ggatcacgag
     2641 gtcaggattt cgagaacagc ctggccaaca tagtgaaacc tcgtatctac taaaaataca
     2701 aaaattatct gggtgtggtg gtgggcacct gttgtcccag ctattcagga ggctgaggca
     2761 ggagaatcgc ttgaacccag gaggtggagg ttgcagtgag ccaagaccat gccattgcac
     2821 tccagccagg taacagagtg agactctgtc tcaaaaaaac acacacacac acacacacaa
     2881 aactgtaggt caaaaaacat gaaaatatgt tcaacatcac taattaggga aatgtaaatc
     2941 aaaaaccaca atgaactctt aaaattcaac agtaagaaaa caacctgatt aaaaacaggc
     3001 caaaaccctt aacatatctc agcaaagaag atagacaggt ggcaaataag catatgaaaa
     3061 gatgttccat ataacatgtc atcaggaaaa tgcaagttag aacaacagac cactatacaa
     3121 ctattagaat ggccaaaatc caaagcaccg acagcatgaa atgctgggaa agttggagca
     3181 accagaactc ttattccttg ctggtgggaa cgcaagatgg cacagccact ttggaagaca
     3241 gttaagcagt ttcttacaaa aactaggtaa gctcttacca tgtgatccag caatcttgct
     3301 ctttagtatt tacctgaagg aactgaaaac atgtccacac aaaaaccagc acatggatgt
     3361 ttatagcagc tttatctata attgccaaaa ctcaacccaa aatgtctttc agtaggtaaa
     3421 tgggtaaata aattgtggtg catgtagtca ttattcagtg cttaaatcaa gctatgacaa
     3481 attatgagtt atcaagctat aagaagtcac agaggaactt aaatgaatgc tactaaatga
     3541 agccagtctg aaaaggcttc atattaaatg atgccaacta tatgacactg ggatgtattc
     3601 tggaaaaggc aaaactatgg agacagtaaa aagcagtggg tgggggaggg gagggaggaa
     3661 taattggagc acagaagatt tttagggcag cgaaactact ctgtatgata ctataattat
     3721 aaatacctgt cattgtacat atgtccaacc ccctaaaatg tacaacacca agagtgaacc
     3781 ctaatgtaaa ctgtggactt tgagtgataa tgatgtgtca gtgtaggttc atcaattact
     3841 gcaaatgtac ctctttggtg ggagatgttg aaaatggtgg agactatgca tgtgtgggga
     3901 caacaactat atgggaaatc tctgtaccct ctcaattttg ctgtaaacct aaaattgctc
     3961 taaaatataa agtctattaa aaccacaa
//
