LOCUS       NM_004255               1173 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 5A (COX5A), mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_004255
VERSION     NM_004255.4
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 1173)
  AUTHORS   Cai,M., Qin,Y., Wan,A., Jin,H., Tang,J. and Chen,Z.
  TITLE     COX5A as a potential biomarker for disease activity and organ
            damage in lupus
  JOURNAL   Clin Exp Med 23 (8), 4745-4756 (2023)
   PUBMED   37891386
  REMARK    GeneRIF: COX5A as a potential biomarker for disease activity and
            organ damage in lupus.
REFERENCE   2  (bases 1 to 1173)
  AUTHORS   Zhang,P., Lu,H., Wu,Y., Lu,D., Li,C., Yang,X., Chen,Z., Qian,J. and
            Ge,J.
  TITLE     COX5A Alleviates Doxorubicin-Induced Cardiotoxicity by Suppressing
            Oxidative Stress, Mitochondrial Dysfunction and Cardiomyocyte
            Apoptosis
  JOURNAL   Int J Mol Sci 24 (12), 10400 (2023)
   PUBMED   37373547
  REMARK    GeneRIF: COX5A Alleviates Doxorubicin-Induced Cardiotoxicity by
            Suppressing Oxidative Stress, Mitochondrial Dysfunction and
            Cardiomyocyte Apoptosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1173)
  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 1173)
  AUTHORS   Zeng,J., Li,G., Xia,Y., Wang,F., Wang,Y., Xu,S., Zhou,Y., Liu,X.,
            Xie,X. and Zhang,J.
  TITLE     miR-204/COX5A axis contributes to invasion and chemotherapy
            resistance in estrogen receptor-positive breast cancers
  JOURNAL   Cancer Lett 492, 185-196 (2020)
   PUBMED   32758616
  REMARK    GeneRIF: miR-204/COX5A axis contributes to invasion and
            chemotherapy resistance in estrogen receptor-positive breast
            cancers.
REFERENCE   5  (bases 1 to 1173)
  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   6  (bases 1 to 1173)
  AUTHORS   Oswald,C., Krause-Buchholz,U. and Rodel,G.
  TITLE     Knockdown of human COX17 affects assembly and supramolecular
            organization of cytochrome c oxidase
  JOURNAL   J Mol Biol 389 (3), 470-479 (2009)
   PUBMED   19393246
REFERENCE   7  (bases 1 to 1173)
  AUTHORS   Uddin,M., Opazo,J.C., Wildman,D.E., Sherwood,C.C., Hof,P.R.,
            Goodman,M. and Grossman,L.I.
  TITLE     Molecular evolution of the cytochrome c oxidase subunit 5A gene in
            primates
  JOURNAL   BMC Evol Biol 8, 8 (2008)
   PUBMED   18197981
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1173)
  AUTHORS   Williams,S.L., Valnot,I., Rustin,P. and Taanman,J.W.
  TITLE     Cytochrome c oxidase subassemblies in fibroblast cultures from
            patients carrying mutations in COX10, SCO1, or SURF1
  JOURNAL   J Biol Chem 279 (9), 7462-7469 (2004)
   PUBMED   14607829
  REMARK    GeneRIF: study points to a role for surfeit 1(SURF1) in promoting
            the association of cytochrome c oxidase II with the cytochrome c
            oxidase I.cytochrome c oxidase subunit 4.cytochrome c oxidase
            subunit 5A subassembly
REFERENCE   9  (bases 1 to 1173)
  AUTHORS   Hofmann,S., Lichtner,P., Schuffenhauer,S., Gerbitz,K.D. and
            Meitinger,T.
  TITLE     Assignment of the human genes coding for cytochrome c oxidase
            subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome
            bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1,
            COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and
            radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 83 (3-4), 226-227 (1998)
   PUBMED   10072584
REFERENCE   10 (bases 1 to 1173)
  AUTHORS   Rizzuto,R., Nakase,H., Zeviani,M., DiMauro,S. and Schon,E.A.
  TITLE     Subunit Va of human and bovine cytochrome c oxidase is highly
            conserved
  JOURNAL   Gene 69 (2), 245-256 (1988)
   PUBMED   2853101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI815421.1, AK026623.1 and
            AC125435.8.
            
            On Nov 22, 2018 this sequence version replaced NM_004255.3.
            
            Summary: Cytochrome c oxidase (COX) is the terminal enzyme of the
            mitochondrial respiratory chain. It is a multi-subunit enzyme
            complex that couples the transfer of electrons from cytochrome c to
            molecular oxygen and contributes to a proton electrochemical
            gradient across the inner mitochondrial membrane. The complex
            consists of 13 mitochondrial- and nuclear-encoded subunits. The
            mitochondrially-encoded subunits perform the electron transfer of
            proton pumping activities. The functions of the nuclear-encoded
            subunits are unknown but they may play a role in the regulation and
            assembly of the complex. This gene encodes the nuclear-encoded
            subunit Va of the human mitochondrial respiratory chain enzyme. A
            pseudogene COX5AP1 has been found in chromosome 14q22. [provided by
            RefSeq, Jul 2008].
            
            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 :: SRR1163655.40972.1,
                                           SRR1163655.347096.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000322347.11/
                                                  ENSP00000317780.6
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AI815421.1         96-120
            26-689              AK026623.1         1-664
            690-1173            AC125435.8         33841-34324
FEATURES             Location/Qualifiers
     source          1..1173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.2"
     gene            1..1173
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /note="cytochrome c oxidase subunit 5A"
                     /db_xref="GeneID:9377"
                     /db_xref="HGNC:HGNC:2267"
                     /db_xref="MIM:603773"
     exon            1..159
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..512
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /EC_number="7.1.1.9"
                     /note="cytochrome c oxidase polypeptide, mitochondrial;
                     cytochrome c oxidase subunit 5A, mitochondrial; cytochrome
                     c oxidase subunit Va; mitochondrial cytochrome c oxidase
                     subunit Va; cytochrome c oxidase polypeptide Va"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 5A, mitochondrial
                     precursor"
                     /protein_id="NP_004246.2"
                     /db_xref="CCDS:CCDS10273.1"
                     /db_xref="GeneID:9377"
                     /db_xref="HGNC:HGNC:2267"
                     /db_xref="MIM:603773"
                     /translation="MLGAALRRCAVAATTRADPRGLLHSARTPGPAVAIQSVRCYSHG
                     SQETDEEFDARWVTYFNKPDIDAWELRKGINTLVTYDMVPEPKIIDAALRACRRLNDF
                     ASTVRILEVVKDKAGPHKEIYPYVIQELRPTLNELGISTPEELGLDKV"
     exon            160..276
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /inference="alignment:Splign:2.1.0"
     exon            277..398
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /inference="alignment:Splign:2.1.0"
     exon            399..521
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /inference="alignment:Splign:2.1.0"
     exon            522..1173
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      661..666
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /note="hexamer: AATAAA"
     polyA_site      689
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /note="major polyA site"
     regulatory      1114..1119
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /note="hexamer: ATTAAA"
     polyA_site      1135
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
     regulatory      1151..1156
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
                     /note="hexamer: ATTAAA"
     polyA_site      1173
                     /gene="COX5A"
                     /gene_synonym="COX; COX-VA; MC4DN20; VA"
ORIGIN      
        1 aacccgcgag cttacaccgg cttctctctg tcctcagccc gcgcgccgcc atcgccgtca
       61 tgctgggcgc cgctctccgc cgctgcgctg tggccgcaac cacccgggcc gaccctcgag
      121 gcctcctgca ctccgcccgg acccccggcc ccgccgtggc tatccagtca gttcgctgct
      181 attcccatgg gtcacaggag acagatgagg agtttgatgc tcgctgggta acatacttca
      241 acaagccaga tatagatgcc tgggaattgc gtaaagggat aaacacactt gttacctatg
      301 atatggttcc agagcccaaa atcattgatg ctgctttgcg ggcatgcaga cggttaaatg
      361 attttgctag tacagttcgt atcctagagg ttgttaagga caaagcagga cctcataagg
      421 aaatctaccc ctatgtcatc caggaactta gaccaacttt aaatgaactg ggaatctcca
      481 ctccggagga actgggcctt gacaaagtgt aaaccgcatg gatgggcttc cccaaggatt
      541 tattgacatt gctacttgag tgtgaacagt tacctggaaa tactgatgat aacatattac
      601 cttatttgaa caagttttcc tttattgagt accaagccat gtaatggtaa cttggacttt
      661 aataaaaggg aaatgagttt gaactgaaat taggtatttg tttcatgtgt ttgcattaat
      721 aagcagaaaa ttaagtgctg tattggtttc atggttttgc tgccctctta catgctgaga
      781 gaactgtgtt aattctctgg aaaccatctg acatgaaaat cagcttcatt aatatgtttg
      841 ggtgccctag cttgtaaatt agctgaaggc tagaagtcat ttatatagaa ttttcttgtt
      901 gacaccctag gcttagggga ctggttgtct gtggggatag atcaaattgt gtacctttcc
      961 aaaacaggtt ttaatgatgt ttaaaagtgg tcactgagat agtcttgagg atgtgctatg
     1021 cagtagccaa gccctcttac ggtgtgttcc tctcttagtg cccctttcct ttcctacctg
     1081 ttcttccctt gcagtggtgt attagccttg gacattaaaa catttgcttt gtaaatttgg
     1141 aggcattctg attaaacagc tgagtaaaac aaa
//
