LOCUS       NM_001863                488 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 6B1 (COX6B1), mRNA.
ACCESSION   NM_001863
VERSION     NM_001863.5
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 488)
  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   2  (bases 1 to 488)
  AUTHORS   Zong,S., Wu,M., Gu,J., Liu,T., Guo,R. and Yang,M.
  TITLE     Structure of the intact 14-subunit human cytochrome c oxidase
  JOURNAL   Cell Res 28 (10), 1026-1034 (2018)
   PUBMED   30030519
REFERENCE   3  (bases 1 to 488)
  AUTHORS   Ogawa,M., Takemoto,Y., Sumi,S., Inoue,D., Kishimoto,N.,
            Takamune,N., Shoji,S., Suzu,S. and Misumi,S.
  TITLE     ATP generation in a host cell in early-phase infection is increased
            by upregulation of cytochrome c oxidase activity via the p2 peptide
            from human immunodeficiency virus type 1 Gag
  JOURNAL   Retrovirology 12, 97 (2015)
   PUBMED   26577226
  REMARK    GeneRIF: p2 peptide from HIV-1 enhances HIV-1 acute infection by
            increasing intracellular ATP production via the activation of
            mitochondrial cytochrome c oxidase (MT-CO) involved in the
            respiratory chain
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 488)
  AUTHORS   Abdulhag,U.N., Soiferman,D., Schueler-Furman,O., Miller,C.,
            Shaag,A., Elpeleg,O., Edvardson,S. and Saada,A.
  TITLE     Mitochondrial complex IV deficiency, caused by mutated COX6B1, is
            associated with encephalomyopathy, hydrocephalus and cardiomyopathy
  JOURNAL   Eur J Hum Genet 23 (2), 159-164 (2015)
   PUBMED   24781756
REFERENCE   5  (bases 1 to 488)
  AUTHORS   Chen,S., Lu,F.F., Seeman,P. and Liu,F.
  TITLE     Quantitative proteomic analysis of human substantia nigra in
            Alzheimer's disease, Huntington's disease and Multiple sclerosis
  JOURNAL   Neurochem Res 37 (12), 2805-2813 (2012)
   PUBMED   22926577
REFERENCE   6  (bases 1 to 488)
  AUTHORS   Taanman,J.W., van der Veen,A.Y., Schrage,C., de Vries,H. and
            Buys,C.H.
  TITLE     Assignment of the gene coding for human cytochrome c oxidase
            subunit VIb to chromosome 19, band q13.1, by fluorescence in situ
            hybridisation
  JOURNAL   Hum Genet 87 (3), 325-327 (1991)
   PUBMED   1650756
REFERENCE   7  (bases 1 to 488)
  AUTHORS   Carrero-Valenzuela,R.D., Quan,F., Lightowlers,R., Kennaway,N.G.,
            Litt,M. and Forte,M.
  TITLE     Human cytochrome c oxidase subunit VIb: characterization and
            mapping of a multigene family
  JOURNAL   Gene 102 (2), 229-236 (1991)
   PUBMED   1651883
REFERENCE   8  (bases 1 to 488)
  AUTHORS   Taanman,J.W., Schrage,C., Bokma,E., Reuvekamp,P., Agsteribbe,E. and
            De Vries,H.
  TITLE     Nucleotide sequence of the last exon of the gene for human
            cytochrome c oxidase subunit VIb and its flanking regions
  JOURNAL   Biochim Biophys Acta 1089 (2), 283-285 (1991)
   PUBMED   1647217
REFERENCE   9  (bases 1 to 488)
  AUTHORS   Taanman,J.W., Schrage,C., Ponne,N.J., Das,A.T., Bolhuis,P.A., de
            Vries,H. and Agsteribbe,E.
  TITLE     Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and
            steady-state levels of coxVIb mRNA in different tissues
  JOURNAL   Gene 93 (2), 285-291 (1990)
   PUBMED   2172092
REFERENCE   10 (bases 1 to 488)
  AUTHORS   Taanman,J.W., Schrage,C., Ponne,N., Bolhuis,P., de Vries,H. and
            Agsteribbe,E.
  TITLE     Nucleotide sequence of cDNA encoding subunit VIb of human
            cytochrome c oxidase
  JOURNAL   Nucleic Acids Res 17 (4), 1766 (1989)
   PUBMED   2537962
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001015.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 11, 2018 this sequence version replaced NM_001863.4.
            
            Summary: Cytochrome c oxidase (COX), the terminal enzyme of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. It 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 be involved in the regulation and
            assembly of the complex. This nuclear gene encodes subunit VIb.
            Mutations in this gene are associated with severe infantile
            encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and
            COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2,
            respectively. [provided by RefSeq, Jan 2010].
            
            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 :: BC001015.2, BF971969.1 [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                 :: ENST00000649813.2/
                                                  ENSP00000497926.1
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-488               BC001015.2         71-558
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..488
                     /gene="COX6B1"
                     /gene_synonym="COX6B; COXG; COXVIb1; MC4DN7"
                     /note="cytochrome c oxidase subunit 6B1"
                     /db_xref="GeneID:1340"
                     /db_xref="HGNC:HGNC:2280"
                     /db_xref="MIM:124089"
     exon            1..81
                     /gene="COX6B1"
                     /gene_synonym="COX6B; COXG; COXVIb1; MC4DN7"
                     /inference="alignment:Splign:2.1.0"
     exon            82..198
                     /gene="COX6B1"
                     /gene_synonym="COX6B; COXG; COXVIb1; MC4DN7"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..353
                     /gene="COX6B1"
                     /gene_synonym="COX6B; COXG; COXVIb1; MC4DN7"
                     /EC_number="7.1.1.9"
                     /note="COX VIb-1; cytochrome c oxidase subunit VIb
                     polypeptide 1 (ubiquitous)"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 6B1"
                     /protein_id="NP_001854.1"
                     /db_xref="CCDS:CCDS12469.1"
                     /db_xref="GeneID:1340"
                     /db_xref="HGNC:HGNC:2280"
                     /db_xref="MIM:124089"
                     /translation="MAEDMETKIKNYKTAPFDSRFPNQNQTRNCWQNYLDFHRCQKAM
                     TAKGGDISVCEWYQRVYQSLCPTSWVTDWDEQRAEGTFPGKI"
     exon            199..299
                     /gene="COX6B1"
                     /gene_synonym="COX6B; COXG; COXVIb1; MC4DN7"
                     /inference="alignment:Splign:2.1.0"
     exon            300..488
                     /gene="COX6B1"
                     /gene_synonym="COX6B; COXG; COXVIb1; MC4DN7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      465..470
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX6B1"
                     /gene_synonym="COX6B; COXG; COXVIb1; MC4DN7"
                     /note="hexamer: AATAAA"
     polyA_site      484
                     /gene="COX6B1"
                     /gene_synonym="COX6B; COXG; COXVIb1; MC4DN7"
                     /note="major polyA site"
ORIGIN      
        1 agtagttccg cttcctgtcc gactgtggtg tctttgctga gggtcacatt gagctgcagg
       61 ttgaatccgg ggtgccttta ggattcagca ccatggcgga agacatggag accaaaatca
      121 agaactacaa gaccgcccct tttgacagcc gcttccccaa ccagaaccag actagaaact
      181 gctggcagaa ctacctggac ttccaccgct gtcagaaggc aatgaccgct aaaggaggcg
      241 atatctctgt gtgcgaatgg taccagcgtg tgtaccagtc cctctgcccc acatcctggg
      301 tcacagactg ggatgagcaa cgggctgaag gcacgtttcc cgggaagatc tgaactggct
      361 gcatctccct ttcctctgtc ctccatcctt ctcccaggat ggtgaagggg gacctggtac
      421 ccagtgatcc ccaccccagg atcctaaatc atgacttacc tgctaataaa aactcattgg
      481 aaaagtga
//
