LOCUS       NM_004375               3150 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase copper chaperone COX11 (COX11),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004375
VERSION     NM_004375.5
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 3150)
  AUTHORS   Li,B., Yu,X. and Pang,F.
  TITLE     LncRNA FGD5-AS1 Alleviates Inflammation in Allergic Rhinitis
            through the miR-223-3p/COX11 Axis
  JOURNAL   Int Arch Allergy Immunol 185 (3), 201-211 (2024)
   PUBMED   38071964
  REMARK    GeneRIF: LncRNA FGD5-AS1 Alleviates Inflammation in Allergic
            Rhinitis through the miR-223-3p/COX11 Axis.
REFERENCE   2  (bases 1 to 3150)
  AUTHORS   Caron-Godon,C.A., Della Vecchia,S., Romano,A., Doccini,S., Dal
            Canto,F., Pasquariello,R., Rubegni,A., Battini,R., Santorelli,F.M.,
            Glerum,D.M. and Nesti,C.
  TITLE     Novel COX11 Mutations Associated with Mitochondrial Disorder:
            Functional Characterization in Patient Fibroblasts and
            Saccharomyces cerevisiae
  JOURNAL   Int J Mol Sci 24 (23), 16636 (2023)
   PUBMED   38068960
  REMARK    GeneRIF: Novel COX11 Mutations Associated with Mitochondrial
            Disorder: Functional Characterization in Patient Fibroblasts and
            Saccharomyces cerevisiae.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3150)
  AUTHORS   Rius,R., Bennett,N.K., Bhattacharya,K., Riley,L.G., Yuksel,Z.,
            Formosa,L.E., Compton,A.G., Dale,R.C., Cowley,M.J., Gayevskiy,V.,
            Al Tala,S.M., Almehery,A.A., Ryan,M.T., Thorburn,D.R., Nakamura,K.
            and Christodoulou,J.
  TITLE     Biallelic pathogenic variants in COX11 are associated with an
            infantile-onset mitochondrial encephalopathy
  JOURNAL   Hum Mutat 43 (12), 1970-1978 (2022)
   PUBMED   36030551
  REMARK    GeneRIF: Biallelic pathogenic variants in COX11 are associated with
            an infantile-onset mitochondrial encephalopathy.
REFERENCE   4  (bases 1 to 3150)
  AUTHORS   Esteves,F., Xavier,J.M., Ford,A.M., Rocha,C., Pharoah,P.D.P.,
            Caldas,C., Chin,S.F. and Maia,A.T.
  TITLE     Germline allelic expression of genes at 17q22 locus associates with
            risk of breast cancer
  JOURNAL   Eur J Cancer 172, 146-157 (2022)
   PUBMED   35772352
  REMARK    GeneRIF: Germline allelic expression of genes at 17q22 locus
            associates with risk of breast cancer.
REFERENCE   5  (bases 1 to 3150)
  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   6  (bases 1 to 3150)
  AUTHORS   Ahmed,S., Thomas,G., Ghoussaini,M., Healey,C.S., Humphreys,M.K.,
            Platte,R., Morrison,J., Maranian,M., Pooley,K.A., Luben,R.,
            Eccles,D., Evans,D.G., Fletcher,O., Johnson,N., dos Santos
            Silva,I., Peto,J., Stratton,M.R., Rahman,N., Jacobs,K.,
            Prentice,R., Anderson,G.L., Rajkovic,A., Curb,J.D., Ziegler,R.G.,
            Berg,C.D., Buys,S.S., McCarty,C.A., Feigelson,H.S., Calle,E.E.,
            Thun,M.J., Diver,W.R., Bojesen,S., Nordestgaard,B.G., Flyger,H.,
            Dork,T., Schurmann,P., Hillemanns,P., Karstens,J.H.,
            Bogdanova,N.V., Antonenkova,N.N., Zalutsky,I.V., Bermisheva,M.,
            Fedorova,S., Khusnutdinova,E., Kang,D., Yoo,K.Y., Noh,D.Y.,
            Ahn,S.H., Devilee,P., van Asperen,C.J., Tollenaar,R.A.,
            Seynaeve,C., Garcia-Closas,M., Lissowska,J., Brinton,L.,
            Peplonska,B., Nevanlinna,H., Heikkinen,T., Aittomaki,K.,
            Blomqvist,C., Hopper,J.L., Southey,M.C., Smith,L., Spurdle,A.B.,
            Schmidt,M.K., Broeks,A., van Hien,R.R., Cornelissen,S., Milne,R.L.,
            Ribas,G., Gonzalez-Neira,A., Benitez,J., Schmutzler,R.K.,
            Burwinkel,B., Bartram,C.R., Meindl,A., Brauch,H., Justenhoven,C.,
            Hamann,U., Chang-Claude,J., Hein,R., Wang-Gohrke,S., Lindblom,A.,
            Margolin,S., Mannermaa,A., Kosma,V.M., Kataja,V., Olson,J.E.,
            Wang,X., Fredericksen,Z., Giles,G.G., Severi,G., Baglietto,L.,
            English,D.R., Hankinson,S.E., Cox,D.G., Kraft,P., Vatten,L.J.,
            Hveem,K., Kumle,M., Sigurdson,A., Doody,M., Bhatti,P.,
            Alexander,B.H., Hooning,M.J., van den Ouweland,A.M.,
            Oldenburg,R.A., Schutte,M., Hall,P., Czene,K., Liu,J., Li,Y.,
            Cox,A., Elliott,G., Brock,I., Reed,M.W., Shen,C.Y., Yu,J.C.,
            Hsu,G.C., Chen,S.T., Anton-Culver,H., Ziogas,A., Andrulis,I.L.,
            Knight,J.A., Beesley,J., Goode,E.L., Couch,F., Chenevix-Trench,G.,
            Hoover,R.N., Ponder,B.A., Hunter,D.J., Pharoah,P.D., Dunning,A.M.,
            Chanock,S.J. and Easton,D.F.
  CONSRTM   SEARCH; GENICA Consortium; kConFab; Australian Ovarian Cancer Study
            Group
  TITLE     Newly discovered breast cancer susceptibility loci on 3p24 and
            17q23.2
  JOURNAL   Nat Genet 41 (5), 585-590 (2009)
   PUBMED   19330027
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3150)
  AUTHORS   Guo,D., Ling,J., Wang,M.H., She,J.X., Gu,J. and Wang,C.Y.
  TITLE     Physical interaction and functional coupling between ACDP4 and the
            intracellular ion chaperone COX11, an implication of the role of
            ACDP4 in essential metal ion transport and homeostasis
  JOURNAL   Mol Pain 1, 15 (2005)
   PUBMED   15840172
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3150)
  AUTHORS   Leary,S.C., Kaufman,B.A., Pellecchia,G., Guercin,G.H., Mattman,A.,
            Jaksch,M. and Shoubridge,E.A.
  TITLE     Human SCO1 and SCO2 have independent, cooperative functions in
            copper delivery to cytochrome c oxidase
  JOURNAL   Hum Mol Genet 13 (17), 1839-1848 (2004)
   PUBMED   15229189
REFERENCE   9  (bases 1 to 3150)
  AUTHORS   Hiser,L., Di Valentin,M., Hamer,A.G. and Hosler,J.P.
  TITLE     Cox11p is required for stable formation of the Cu(B) and magnesium
            centers of cytochrome c oxidase
  JOURNAL   J Biol Chem 275 (1), 619-623 (2000)
   PUBMED   10617659
REFERENCE   10 (bases 1 to 3150)
  AUTHORS   Petruzzella,V., Tiranti,V., Fernandez,P., Ianna,P., Carrozzo,R. and
            Zeviani,M.
  TITLE     Identification and characterization of human cDNAs specific to
            BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the
            formation and function of the mitochondrial respiratory chain
  JOURNAL   Genomics 54 (3), 494-504 (1998)
   PUBMED   9878253
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF725369.1, AK293851.1,
            AC007485.10 and W33157.1.
            
            On Jul 16, 2019 this sequence version replaced NM_004375.4.
            
            Summary: Cytochrome c oxidase (COX), the terminal component of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. This component is a
            heteromeric complex consisting of 3 catalytic subunits encoded by
            mitochondrial genes and multiple structural subunits encoded by
            nuclear genes. The mitochondrially-encoded subunits function in
            electron transfer, and the nuclear-encoded subunits may function in
            the regulation and assembly of the complex. This nuclear gene
            encodes a protein which is not a structural subunit, but may be a
            heme A biosynthetic enzyme involved in COX formation, according to
            the yeast mutant studies. However, the studies in Rhodobacter
            sphaeroides suggest that this gene is not required for heme A
            biosynthesis, but required for stable formation of the Cu(B) and
            magnesium centers of COX. This human protein is predicted to
            contain a transmembrane domain localized in the mitochondrial inner
            membrane. Multiple transcript variants encoding different isoforms
            have been found for this gene. A related pseudogene has been found
            on chromosome 6. [provided by RefSeq, Jun 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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.
            
            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 :: SRR14038193.3114615.1,
                                           SRR14038194.3820515.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000299335.8/
                                                  ENSP00000299335.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                BF725369.1         132-167
            37-1402             AK293851.1         1-1366
            1403-2223           AC007485.10        17197-18017         c
            2224-2366           W33157.1           13-155              c
            2367-3150           AC007485.10        16270-17053         c
FEATURES             Location/Qualifiers
     source          1..3150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..3150
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /note="cytochrome c oxidase copper chaperone COX11"
                     /db_xref="GeneID:1353"
                     /db_xref="HGNC:HGNC:2261"
                     /db_xref="MIM:603648"
     exon            1..374
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /inference="alignment:Splign:2.1.0"
     CDS             9..839
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytochrome c oxidase subunit 11; COX11, cytochrome c
                     oxidase copper chaperone; cytochrome c oxidase assembly
                     protein COX11, mitochondrial; COX11 homolog, cytochrome c
                     oxidase assembly protein"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly protein COX11,
                     mitochondrial isoform 1"
                     /protein_id="NP_004366.1"
                     /db_xref="CCDS:CCDS11583.1"
                     /db_xref="GeneID:1353"
                     /db_xref="HGNC:HGNC:2261"
                     /db_xref="MIM:603648"
                     /translation="MGGLWRPGWRCVPFCGWRWIHPGSPTRAAERVEPFLRPEWSGTG
                     GAERGLRWLGTWKRCSLRARHPALQPPRRPKSSNPFTRAQEEERRRQNKTTLTYVAAV
                     AVGMLGASYAAVPLYRLYCQTTGLGGSAVAGHASDKIENMVPVKDRIIKISFNADVHA
                     SLQWNFRPQQTEIYVVPGETALAFYRAKNPTDKPVIGISTYNIVPFEAGQYFNKIQCF
                     CFEEQRLNPQEEVDMPVFFYIDPEFAEDPRMIKVDLITLSYTFFEAKEGHKLPVPGYN
                     "
     exon            375..530
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /inference="alignment:Splign:2.1.0"
     exon            531..656
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /inference="alignment:Splign:2.1.0"
     exon            657..3150
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1610..1615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /note="hexamer: ATTAAA"
     polyA_site      1630
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /note="major polyA site"
     regulatory      2342..2347
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /note="hexamer: AATAAA"
     polyA_site      2366
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
     polyA_site      2453
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
     regulatory      3132..3137
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
                     /note="hexamer: AATAAG"
     polyA_site      3150
                     /gene="COX11"
                     /gene_synonym="COX11P; MC4DN23"
ORIGIN      
        1 agagggttat gggagggctc tggcgtcctg gatggaggtg cgttcctttc tgtggctggc
       61 gctggatcca ccctgggtct ccaaccaggg ctgcagagag ggtagagccg tttcttaggc
      121 cagagtggag tgggacagga ggtgccgaga gaggactgag gtggcttggg acatggaagc
      181 gctgcagcct tcgagcccgg catccagcat tgcagccgcc gcggcggcct aagagctcga
      241 accctttcac acgcgcgcag gaggaggagc ggcggcggca gaacaagacg accctcactt
      301 acgtggccgc tgtcgccgtg ggcatgctgg gggcgtccta cgctgccgta cccctttatc
      361 ggctctattg ccagactact ggacttggag gatcagcagt tgcaggtcat gcctcagaca
      421 agattgaaaa catggtgcct gttaaagatc gaatcattaa aattagcttt aatgcagatg
      481 tgcatgcaag tctccagtgg aactttagac ctcagcaaac agaaatatat gtggtgccag
      541 gagagactgc actggcgttt tacagagcta agaatcctac tgacaaacca gtaattggaa
      601 tttctacata caatattgtt ccatttgaag ctggacagta tttcaataaa atacagtgct
      661 tctgttttga agaacaaagg cttaatcccc aagaggaagt agatatgcca gtgtttttct
      721 acattgatcc tgaatttgct gaagatccaa gaatgattaa agttgatctt atcactcttt
      781 cttacacttt ttttgaagca aaggaagggc acaagttgcc agttccagga tataattgaa
      841 gtcagcaact aagtcttcct tcaaagttgt gatttttggg aaaatcatat atcctatctt
      901 ctcaaaggag aaatattgta caataatatg aaggcttata ttttaaataa ttattttttc
      961 tcaactaatt tttttcactt aaacttgaga gaacaagttc agcttttatc ataagaaact
     1021 catatgccta gctagaatat atgactgact attcaatacc atactgaaga gtttgatact
     1081 attaaaataa gccgctttgt tttttaaata tgcaggcatg ggttcagctt aattccataa
     1141 ttcccttcca gattattaac tcttcatact tacagcaatg aatctgacaa tgtttttcaa
     1201 aaatgtatgc tcagggttat ttgtttcaag tcataggcca gaacttctaa ccatgtttat
     1261 tgtgtctaaa agagttggtt gctattttcc ttcattatga atagtcagta ttttaaaagc
     1321 tcaaagtaga agaggagtca ctaagcccta acagcttgtc caaagattta aattcttatt
     1381 tcaaatttga tttgtccttt aaggtttagg gctattttat attcagagtt ctgaataatt
     1441 actttgaaac tgtagtatca taaaattgaa ataaaataca tctactaggc tgttagccaa
     1501 agcatcacca ttacaagtcc atgaatgtta aaatgtacag gtgggattgt gaagatttac
     1561 tgacatcaaa agttcttctg gaaacaaacc tttgttaaaa aaaaaaagta ttaaattgtt
     1621 ttaatagtga tttatttgtc atcaaatgta caacttattc taaatatttt cattttctgt
     1681 gttctaaata gaaatattaa gttgcagtaa aaagagaaaa aaaggctatt tagcattaca
     1741 aagaatcata tttaaaggct gcccaatgta gagtctagtg acctgttcag gacacctgaa
     1801 atataattaa atgacaatta tcaaggtttt aacaatttat aattctaaac cagaggatta
     1861 taaagaagtg caaattgact tttacattca actttagtta aatgaaggca ctcagtattc
     1921 ttcctgaata atacattcag tttctcacat tttatgcttt catctattca gaattatttc
     1981 atagtaaaat aatctactct tatcacagct gtgtgacgat ttctaaatgt aggaaggcct
     2041 gtgaaacatg acactgcagt taaattggtt ggcctaagga ctaagtaatt tttcttctgc
     2101 tgaagtttta agtgagtatt tgttccaaac aagttctgtt gaaatctcac gctgttgtca
     2161 ggaatcagtg ttatcctgga actgttattc tatttaatct tcattatagc agaaatgtgc
     2221 caccatggct ttgacatgtt ggtaggtatt gtcttccagg cttcaaagct gcacagagtc
     2281 tacgttttag agagttggca cctttgatgt ggtagtgagc tgatcatcca ctttcttcta
     2341 aaataaagag aagaaaatgg ccagtattca tcctgtcctt ctctttcccc attccttgat
     2401 aactctcttg tctttactgg gaagctggag agtcacagtc tagtagaaga aaggtaagaa
     2461 tgtgcttctt ccatagggga gggtataagg ggaataaata agttttgata gttcattggt
     2521 gaccattaaa tagtaaatac atgggattag tagtgctgaa aataggaaaa attcagacct
     2581 atttggagga ctaacggtaa atgggtctac tggtaccggt taacaagtat taactgcata
     2641 tgaaaaacaa atgcctgatt tcagtgctac tcctattgct catctatttt gttagcatta
     2701 atatttctat accataaact actgtattcc caagccttac tatttacaga tgagaaaatc
     2761 acaaagaatg actctcatta gtgaacaatg gttcagcaca atttgaatga ttcaggggaa
     2821 ctcatatttc aaagtgtcag actcagatgg cccttagaaa atttaaatac taaatatgta
     2881 aagtgataat tatactgaaa ttatatggaa tatggaatta agttgtataa gttgaagtct
     2941 ttacctcagt caccatcatt ttgagctcct ttgtgctggt gagcatcaat ttcttcataa
     3001 atagctctga aacaaagcca tcacagcaaa agggttatgt atcaatttca aagtgctatt
     3061 ttggttttta actgccagca ctgtaattaa aaattgagct ggttttggag ttcaggctac
     3121 atatgagtaa aaataagtct ctgccctgaa
//
