LOCUS       NM_001862                690 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 5B (COX5B), mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_001862
VERSION     NM_001862.3
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 690)
  AUTHORS   Song,Z., Bian,W., Lin,J., Guo,Y., Shi,W., Meng,H., Chen,Y.,
            Zhang,M., Liu,Z., Lin,Z., Ma,K. and Li,L.
  TITLE     Heart proteomic profiling discovers MYH6 and COX5B as biomarkers
            for sudden unexplained death
  JOURNAL   Forensic Sci Int 361, 112121 (2024)
   PUBMED   38971138
  REMARK    GeneRIF: Heart proteomic profiling discovers MYH6 and COX5B as
            biomarkers for sudden unexplained death.
REFERENCE   2  (bases 1 to 690)
  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 690)
  AUTHORS   Wohlschlegel,J., Argentini,M., Michiels,C., Letellier,C.,
            Forster,V., Condroyer,C., He,Z., Thuret,G., Zeitz,C., Leger,T. and
            Audo,I.
  TITLE     First identification of ITM2B interactome in the human retina
  JOURNAL   Sci Rep 11 (1), 17210 (2021)
   PUBMED   34446781
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 690)
  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 690)
  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 690)
  AUTHORS   Lefai,E., Vincent,A., Boespflug-Tanguy,O., Tanguy,A. and Alziari,S.
  TITLE     Quantitative decrease of human cytochrome c oxidase during
            development: evidences for a post-transcriptional regulation
  JOURNAL   Biochim Biophys Acta 1318 (1-2), 191-201 (1997)
   PUBMED   9030264
REFERENCE   7  (bases 1 to 690)
  AUTHORS   Bachman,N.J., Yang,T.L., Dasen,J.S., Ernst,R.E. and Lomax,M.I.
  TITLE     Phylogenetic footprinting of the human cytochrome c oxidase subunit
            VB promoter
  JOURNAL   Arch Biochem Biophys 333 (1), 152-162 (1996)
   PUBMED   8806766
REFERENCE   8  (bases 1 to 690)
  AUTHORS   Lomax,M.I., Hsieh,C.L., Darras,B.T. and Francke,U.
  TITLE     Structure of the human cytochrome c oxidase subunit Vb gene and
            chromosomal mapping of the coding gene and of seven pseudogenes
  JOURNAL   Genomics 10 (1), 1-9 (1991)
   PUBMED   1646156
REFERENCE   9  (bases 1 to 690)
  AUTHORS   Romero,N., Marsac,C., Fardeau,M., Droste,M., Schneyder,B. and
            Kadenbach,B.
  TITLE     Immunohistochemical demonstration of fibre type-specific isozymes
            of cytochrome c oxidase in human skeletal muscle
  JOURNAL   Histochemistry 94 (2), 211-215 (1990)
   PUBMED   2162812
REFERENCE   10 (bases 1 to 690)
  AUTHORS   Zeviani,M., Sakoda,S., Sherbany,A.A., Nakase,H., Rizzuto,R.,
            Samitt,C.E., DiMauro,S. and Schon,E.A.
  TITLE     Sequence of cDNAs encoding subunit Vb of human and bovine
            cytochrome c oxidase
  JOURNAL   Gene 65 (1), 1-11 (1988)
   PUBMED   2840351
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC006229.2 and AC017099.11.
            
            On May 17, 2019 this sequence version replaced NM_001862.2.
            
            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 and
            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 Vb of the human mitochondrial respiratory chain enzyme.
            [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 :: CB110753.1, CB109633.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000258424.3/
                                                  ENSP00000258424.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-501               BC006229.2         5-505
            502-690             AC017099.11        158577-158765
FEATURES             Location/Qualifiers
     source          1..690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..690
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /note="cytochrome c oxidase subunit 5B"
                     /db_xref="GeneID:1329"
                     /db_xref="HGNC:HGNC:2269"
                     /db_xref="MIM:123866"
     exon            1..128
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..415
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /EC_number="7.1.1.9"
                     /note="cytochrome c oxidase polypeptide VB, mitochondrial;
                     cytochrome c oxidase subunit 5B, mitochondrial; cytochrome
                     c oxidase subunit Vb; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 5B, mitochondrial
                     precursor"
                     /protein_id="NP_001853.2"
                     /db_xref="CCDS:CCDS2032.1"
                     /db_xref="GeneID:1329"
                     /db_xref="HGNC:HGNC:2269"
                     /db_xref="MIM:123866"
                     /translation="MASRLLRGAGTLAAQALRARGPSGAAAMRSMASGGGVPTDEEQA
                     TGLEREIMLAAKKGLDPYNVLAPKGASGTREDPNLVPSISNKRIVGCICEEDNTSVVW
                     FWLHKGEAQRCPRCGAHYKLVPQQLAH"
     exon            129..202
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /inference="alignment:Splign:2.1.0"
     exon            203..302
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /inference="alignment:Splign:2.1.0"
     exon            303..690
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      464..469
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /note="hexamer: AGTAAA"
     polyA_site      499
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /note="major polyA site"
     regulatory      638..643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /note="hexamer: AATAAG"
     regulatory      644..649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX5B"
                     /gene_synonym="COXVB"
                     /note="hexamer: AATAGA"
     polyA_site      656
                     /gene="COX5B"
                     /gene_synonym="COXVB"
     polyA_site      663
                     /gene="COX5B"
                     /gene_synonym="COXVB"
ORIGIN      
        1 agttttgctg ctagtcgcgg acgcaatggc ttcaaggtta cttcgcggag ctggaacgct
       61 ggccgcgcag gccctgaggg ctcgcggccc cagtggcgcg gccgcgatgc gctccatggc
      121 atctggaggt ggtgttccca ctgatgaaga gcaggcgact gggttggaga gggagatcat
      181 gctggctgca aagaagggac tggacccata caatgtactg gccccaaagg gagcttcagg
      241 caccagggaa gaccctaatt tagtcccctc catctccaac aagagaatag taggctgcat
      301 ctgtgaagag gacaatacca gcgtcgtctg gttttggctg cacaaaggcg aggcccagcg
      361 atgcccccgc tgtggagccc attacaagct ggtgccccag cagctggcac actgagcacc
      421 tgcactaaat tactcaaaat gtgctgtaaa gtttcttctt tccagtaaag actagccatt
      481 gcattggctc cttctcccat agatggctgg tcttatttct tacccgtatt ctttggtagg
      541 catggaatat gcttattttg ggaaaagctg tctgttaatg ctagcttgcc atccacttac
      601 tgaaagtgta taaccagtgt atagtgctta gattaataat aagaatagat cgacaacccg
      661 taatgcaatg aatgggacca cctggtatga
//
