LOCUS       NM_032901                484 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor COX14 (COX14),
            transcript variant 1, mRNA.
ACCESSION   NM_032901
VERSION     NM_032901.4
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 484)
  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 484)
  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   3  (bases 1 to 484)
  AUTHORS   Richter-Dennerlein,R., Oeljeklaus,S., Lorenzi,I., Ronsor,C.,
            Bareth,B., Schendzielorz,A.B., Wang,C., Warscheid,B., Rehling,P.
            and Dennerlein,S.
  TITLE     Mitochondrial Protein Synthesis Adapts to Influx of Nuclear-Encoded
            Protein
  JOURNAL   Cell 167 (2), 471-483 (2016)
   PUBMED   27693358
REFERENCE   4  (bases 1 to 484)
  AUTHORS   Lee,S.Y., Kang,M.G., Park,J.S., Lee,G., Ting,A.Y. and Rhee,H.W.
  TITLE     APEX Fingerprinting Reveals the Subcellular Localization of
            Proteins of Interest
  JOURNAL   Cell Rep 15 (8), 1837-1847 (2016)
   PUBMED   27184847
REFERENCE   5  (bases 1 to 484)
  AUTHORS   Ostergaard,E., Weraarpachai,W., Ravn,K., Born,A.P., Jonson,L.,
            Duno,M., Wibrand,F., Shoubridge,E.A. and Vissing,J.
  TITLE     Mutations in COA3 cause isolated complex IV deficiency associated
            with neuropathy, exercise intolerance, obesity, and short stature
  JOURNAL   J Med Genet 52 (3), 203-207 (2015)
   PUBMED   25604084
  REMARK    GeneRIF: COX14 was undetectable in COA3 subject fibroblasts, and
            that COA3 was undetectable in fibroblasts from a COX14 subject,
            demonstrating the interdependence of these two COX assembly factors
REFERENCE   6  (bases 1 to 484)
  AUTHORS   Lai,Y., Yu,Z., Wang,Y. and Ye,J.
  TITLE     Identification of PCAG1 as a novel prostate cancer-associated gene
  JOURNAL   Mol Med Rep 7 (3), 755-760 (2013)
   PUBMED   23292432
  REMARK    GeneRIF: While PCAG1 mRNA was highly expressed in prostate cancer
            tissues, it was almost absent in all common normal tissues and
            paired adjacent normal prostate tissues.
REFERENCE   7  (bases 1 to 484)
  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
REFERENCE   8  (bases 1 to 484)
  AUTHORS   Weraarpachai,W., Sasarman,F., Nishimura,T., Antonicka,H., Aure,K.,
            Rotig,A., Lombes,A. and Shoubridge,E.A.
  TITLE     Mutations in C12orf62, a factor that couples COX I synthesis with
            cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis
  JOURNAL   Am J Hum Genet 90 (1), 142-151 (2012)
   PUBMED   22243966
REFERENCE   9  (bases 1 to 484)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007849.2 and AI208662.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032901.3.
            
            Summary: This gene encodes a small single-pass transmembrane
            protein that localizes to mitochondria. This protein may play a
            role in coordinating the early steps of cytochrome c oxidase (COX;
            also known as complex IV) subunit assembly and, in particular, the
            synthesis and assembly of the COX I subunit of the holoenzyme.
            Mutations in this gene have been associated with mitochondrial
            complex IV deficiency. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript. Variants 1-3 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.446910.1, AL697834.1
                                           [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. :: PMID: 22356826, 22243966;
                                                  reported by MitoCarta
            MANE Ensembl match                 :: ENST00000550487.6/
                                                  ENSP00000446524.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-482               BC007849.2         120-601
            483-484             AI208662.1         16-17               c
FEATURES             Location/Qualifiers
     source          1..484
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..484
                     /gene="COX14"
                     /gene_synonym="C12orf62; MC4DN10; PCAG1"
                     /note="cytochrome c oxidase assembly factor COX14"
                     /db_xref="GeneID:84987"
                     /db_xref="HGNC:HGNC:28216"
                     /db_xref="MIM:614478"
     exon            1..66
                     /gene="COX14"
                     /gene_synonym="C12orf62; MC4DN10; PCAG1"
                     /inference="alignment:Splign:2.1.0"
     exon            67..484
                     /gene="COX14"
                     /gene_synonym="C12orf62; MC4DN10; PCAG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..248
                     /gene="COX14"
                     /gene_synonym="C12orf62; MC4DN10; PCAG1"
                     /note="COX14 cytochrome c oxidase assembly homolog;
                     cytochrome c oxidase assembly homolog 14; COX14,
                     cytochrome c oxidase assembly factor"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly protein COX14"
                     /protein_id="NP_116290.1"
                     /db_xref="CCDS:CCDS8800.1"
                     /db_xref="GeneID:84987"
                     /db_xref="HGNC:HGNC:28216"
                     /db_xref="MIM:614478"
                     /translation="MPTGKQLADIGYKTFSTSMMLLTVYGGYLCSVRVYHYFQWRRAQ
                     RQAAEEQKTSGIM"
     regulatory      465..470
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX14"
                     /gene_synonym="C12orf62; MC4DN10; PCAG1"
                     /note="hexamer: ATTAAA"
     polyA_site      484
                     /gene="COX14"
                     /gene_synonym="C12orf62; MC4DN10; PCAG1"
                     /note="major polyA site"
ORIGIN      
        1 agtggcctcg agaccctgcc tgcctgagga ggcctcggtt ggatgcgaag gagctgcagc
       61 atccagggga caagatgcca actggcaagc agctagctga cattggctat aagaccttct
      121 ctacctccat gatgcttctc actgtgtatg gggggtacct ctgcagtgtc cgagtctacc
      181 actatttcca gtggcgcagg gcccagcgcc aggccgcaga agaacagaag acctcaggaa
      241 tcatgtagaa ctggggggct ttttctcctg agcagagagg cccaaggcat gctgtggaga
      301 gacttcacct gccaccattt ccaggtcaac aggactagag cgttgatggt tttcaaaccc
      361 tgttggaaga aagtgcccat ggtttctctg gttctgccag tttgacagtt tatggaggct
      421 tttgaatcgt aatagcaatg tgagggtgag gtacacctac agacattaaa taatttgctg
      481 tgtc
//
