LOCUS       NM_198076               2295 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor COX20 (COX20),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_198076
VERSION     NM_198076.6
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 2295)
  AUTHORS   Chen,L. and Liu,Y.
  TITLE     Clinical and genetic characteristics of children with
            COX20-associated mitochondrial disorder: case report and literature
            review
  JOURNAL   BMC Med Genomics 16 (1), 86 (2023)
   PUBMED   37095481
  REMARK    GeneRIF: Clinical and genetic characteristics of children with
            COX20-associated mitochondrial disorder: case report and literature
            review.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2295)
  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 2295)
  AUTHORS   Dong,H.L., Ma,Y., Yu,H., Wei,Q., Li,J.Q., Liu,G.L., Li,H.F.,
            Chen,L., Chen,D.F., Bai,G. and Wu,Z.Y.
  TITLE     Bi-allelic loss of function variants in COX20 gene cause autosomal
            recessive sensory neuronopathy
  JOURNAL   Brain 144 (8), 2457-2470 (2021)
   PUBMED   33751098
  REMARK    GeneRIF: Bi-allelic loss of function variants in COX20 gene cause
            autosomal recessive sensory neuronopathy.
REFERENCE   4  (bases 1 to 2295)
  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 2295)
  AUTHORS   Xu,H., Ji,T., Lian,Y., Wang,S., Chen,X., Li,S., Yin,Y. and Dong,X.
  TITLE     Observation of novel COX20 mutations related to autosomal recessive
            axonal neuropathy and static encephalopathy
  JOURNAL   Hum Genet 138 (7), 749-756 (2019)
   PUBMED   31079202
  REMARK    GeneRIF: COX20 mutation are associated with autosomal recessive
            axonal neuropathy and static encephalopathy.
REFERENCE   6  (bases 1 to 2295)
  AUTHORS   Bourens,M., Boulet,A., Leary,S.C. and Barrientos,A.
  TITLE     Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and
            promote the assembly of cytochrome c oxidase
  JOURNAL   Hum Mol Genet 23 (11), 2901-2913 (2014)
   PUBMED   24403053
  REMARK    GeneRIF: COX20 cooperates with SCO1 and SCO2 to mature COX2 and
            promote the assembly of cytochrome c oxidase.
REFERENCE   7  (bases 1 to 2295)
  AUTHORS   Doss,S., Lohmann,K., Seibler,P., Arns,B., Klopstock,T., Zuhlke,C.,
            Freimann,K., Winkler,S., Lohnau,T., Drungowski,M., Nurnberg,P.,
            Wiegers,K., Lohmann,E., Naz,S., Kasten,M., Bohner,G., Ramirez,A.,
            Endres,M. and Klein,C.
  TITLE     Recessive dystonia-ataxia syndrome in a Turkish family caused by a
            COX20 (FAM36A) mutation
  JOURNAL   J Neurol 261 (1), 207-212 (2014)
   PUBMED   24202787
  REMARK    GeneRIF: This study deministrated that phenotypic spectrum of
            mutation in COX20 to a recessively inherited, early-onset
            dystonia-ataxia syndrome that is characterized by reduced complex
            IV activity.
REFERENCE   8  (bases 1 to 2295)
  AUTHORS   Szklarczyk,R., Wanschers,B.F., Nijtmans,L.G., Rodenburg,R.J.,
            Zschocke,J., Dikow,N., van den Brand,M.A., Hendriks-Franssen,M.G.,
            Gilissen,C., Veltman,J.A., Nooteboom,M., Koopman,W.J.,
            Willems,P.H., Smeitink,J.A., Huynen,M.A. and van den Heuvel,L.P.
  TITLE     A mutation in the FAM36A gene, the human ortholog of COX20, impairs
            cytochrome c oxidase assembly and is associated with ataxia and
            muscle hypotonia
  JOURNAL   Hum Mol Genet 22 (4), 656-667 (2013)
   PUBMED   23125284
  REMARK    GeneRIF: The function of the human gene FAM36A/COX20 in complex IV
            assembly and role of the gene in complex IV deficiency.
REFERENCE   9  (bases 1 to 2295)
  AUTHORS   Thierry,G., Beneteau,C., Pichon,O., Flori,E., Isidor,B.,
            Popelard,F., Delrue,M.A., Duboscq-Bidot,L., Thuresson,A.C., van
            Bon,B.W., Cailley,D., Rooryck,C., Paubel,A., Metay,C., Dusser,A.,
            Pasquier,L., Beri,M., Bonnet,C., Jaillard,S., Dubourg,C., Tou,B.,
            Quere,M.P., Soussi-Zander,C., Toutain,A., Lacombe,D., Arveiler,B.,
            de Vries,B.B., Jonveaux,P., David,A. and Le Caignec,C.
  TITLE     Molecular characterization of 1q44 microdeletion in 11 patients
            reveals three candidate genes for intellectual disability and
            seizures
  JOURNAL   Am J Med Genet A 158A (7), 1633-1640 (2012)
   PUBMED   22678713
  REMARK    GeneRIF: These results suggest that HNRNPU, FAM36A, and NCRNA00201
            are not major genes for microcephaly and corpus callosum
            abnormalities but are good candidates for intellectual disability
            (ID) and seizures.
REFERENCE   10 (bases 1 to 2295)
  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    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK125259.1, AK000866.1 and
            EL947693.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_198076.5.
            
            Summary: This gene encodes a protein that plays a role in the
            assembly of cytochrome C oxidase, an important component of the
            respiratory pathway. It contains two transmembrane helices and
            localizes to the mitochondrial membrane. Mutations in this gene can
            cause mitochondrial complex IV deficiency, which results in ataxia
            and muscle hypotonia. There are multiple pseudogenes for this gene.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1. Variants 1 and 2 encode the same
            protein (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 :: SRR3476690.226321.1,
                                           SRR1803614.58235.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 22356826; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000411948.7/
                                                  ENSP00000406327.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               AK125259.1         322-437
            117-2002            AK000866.1         89-1974
            2003-2295           EL947693.1         248-540
FEATURES             Location/Qualifiers
     source          1..2295
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..2295
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /note="cytochrome c oxidase assembly factor COX20"
                     /db_xref="GeneID:116228"
                     /db_xref="HGNC:HGNC:26970"
                     /db_xref="MIM:614698"
     exon            1..99
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..414
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     family with sequence similarity 36, member A; cytochrome c
                     oxidase protein 20 homolog; COX20 Cox2 chaperone homolog;
                     cytochrome c oxidase assembly protein COX20,
                     mitochondrial; COX20, cytochrome c oxidase assembly
                     factor"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly protein COX20,
                     mitochondrial isoform 1"
                     /protein_id="NP_932342.1"
                     /db_xref="CCDS:CCDS31080.1"
                     /db_xref="GeneID:116228"
                     /db_xref="HGNC:HGNC:26970"
                     /db_xref="MIM:614698"
                     /translation="MAAPPEPGEPEERKSLKLLGFLDVENTPCARHSILYGSLGSVVA
                     GFGHFLFTSRIRRSCDVGVGGFILVTLGCWFHCRYNYAKQRIQERIAREEIKKKILYE
                     GTHLDPERKHNGSSSN"
     exon            100..214
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /inference="alignment:Splign:2.1.0"
     exon            215..278
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /inference="alignment:Splign:2.1.0"
     exon            279..2295
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      501..506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /note="hexamer: AATAAA"
     polyA_site      522
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /note="major polyA site"
     regulatory      2274..2279
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
                     /note="hexamer: AATAAA"
     polyA_site      2295
                     /gene="COX20"
                     /gene_synonym="FAM36A; MC4DN11"
ORIGIN      
        1 gcttctgctt ccgcgacccc ggcggtgcag ggcgggtgga gtcgcggagt agtcctcatg
       61 gccgccccgc cggagcccgg tgagcccgag gagaggaagt cccttaagct cctaggattt
      121 ttagatgttg aaaatactcc ctgcgcccgg cattcaatat tgtatggttc attaggatct
      181 gttgtggctg gctttggaca ttttttgttc actagtagaa ttagaagatc atgtgatgtt
      241 ggagtaggag ggtttatctt ggtgactttg ggatgctggt ttcattgtag gtataattat
      301 gcaaagcaaa gaatccagga aagaattgcc agagaagaaa ttaaaaagaa gatattatat
      361 gaaggtaccc acctcgatcc tgaaagaaaa cacaacggca gcagcagcaa ttgaacaatc
      421 ttgagcatag aagtcaatgt aaacgaagtt aagatcaacc acataaaaca tttcatgtgc
      481 aataagctct caatcaagta aataaagttt aagttgtagt catttttttc ccacacttgt
      541 gtggaatgaa aacttgccag tttattctgg ccctgtgtct actgccagga tagcattctt
      601 acgtgttaca tatagtggac ttgtcatcct taaaatgtga acagaattta ttggcagtgt
      661 ggcaaagaat tataaaacat agtgtttaat gtacttggag tttccttgta gtagtaagta
      721 tagagtttga tgataagtaa acgtccctta acaaaaacct caaccttatt actatcccat
      781 taaaaaacag caaatactta ctgagttctt gtaagagcta atgtcattgt aagatttaaa
      841 actaagggct tttatcactt tgcaaattat tttttaaatg cattcatcat ttgacagtgt
      901 tctctcattt cttaaaatgc gagtcatctt ccaaaagagt tgtttttaac tgccctaaac
      961 atttttgggg aagtatgcag ggtttaaatt tttaagtata attagttctg aattaaaata
     1021 tgcacatgga acttgtctgg cagactgatg caatagtaaa acaactgcag aattactatt
     1081 aatgtaaaca atccatttga aagtcaatca gctgctccca ttaaaatatt atttaaaata
     1141 caatacccac agcatctaac taaatcctca ggatttattc tccgggagaa attatccctt
     1201 tctaggaaaa tgaagttatt tctggtttta attcatacaa tactttaaga aaatctgtta
     1261 aatataacaa aacacaagct agatgcttaa gaaatgctta aagaaatatt ggggcgaagg
     1321 taacagcagt caacaggatt gtggccatta ctggtcctat tattttgatg taccatggaa
     1381 ggcacagaaa tcgagcaagg aagaaaatat tagttatttt gatctacatc tttttctaaa
     1441 gaaaagtgga gcttgcctcc agttcaattc acaagagcat tttccctccc atgcccacct
     1501 tttcttgtgg ctgtcgctag gaaggatgca gaggctgtgt ggtttaccaa atgccttaac
     1561 ttagcagtga atgacaactg tcaaacacat gttgagggaa aatttttact gattcacaaa
     1621 aaggaagaca gtttgcccac tcttagtggc acaaatcaaa gctgcatgca ctacattatc
     1681 caaattagtc gtaaccaaat agttaaaaaa ttctgctggg cacggtggct catacctgta
     1741 atcccagcac tttgggaggc cgaggcagtt ggatcacctg aggttaggag tttgagacca
     1801 gcctggccaa cagggtgaaa ccctgtctcg tctaaaaata caaaaattag ccgggcgtgg
     1861 tggtgcatgc ctgtagtccc aggtactcag gaggctgagg caggagaatc acttgaaccc
     1921 gaggtggggc aggcggaggt tgcagtaagc caagatcgcg ccattgcact ctagcctagg
     1981 tgacagagtg agactccatc tcaaaaaaaa aaaaaaattc cataggatgt tcaaccatgt
     2041 tttcagaggc cgcactgcat gaatgcggga aaatgttgat gatcactaat caataatctg
     2101 atatttaaca aaatatggac aggccactta tgctcagttt taccttagtt attccttggt
     2161 atccacaggc ccaagtccct ttaaataaaa taccctcata tttccatata atctacatac
     2221 attctcccat atactttaaa tcatctctag attacttata atgtctaata caaaataaat
     2281 gctatgtaaa tgtaa
//
