LOCUS       NM_001171155             663 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens PET100 cytochrome c oxidase chaperone (PET100),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001171155 XM_001723846 XM_001726504
VERSION     NM_001171155.2
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 663)
  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 663)
  AUTHORS   Vidoni,S., Harbour,M.E., Guerrero-Castillo,S., Signes,A., Ding,S.,
            Fearnley,I.M., Taylor,R.W., Tiranti,V., Arnold,S.,
            Fernandez-Vizarra,E. and Zeviani,M.
  TITLE     MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of
            Human Cytochrome c Oxidase
  JOURNAL   Cell Rep 18 (7), 1727-1738 (2017)
   PUBMED   28199844
  REMARK    GeneRIF: The short isoform of the myofibrillogenesis regulator 1
            (MR-1S) as a new COX assembly factor, which works with the highly
            conserved PET100 and PET117 chaperones to assist COX biogenesis in
            higher eukaryotes.
REFERENCE   3  (bases 1 to 663)
  AUTHORS   Lim,S.C., Smith,K.R., Stroud,D.A., Compton,A.G., Tucker,E.J.,
            Dasvarma,A., Gandolfo,L.C., Marum,J.E., McKenzie,M., Peters,H.L.,
            Mowat,D., Procopis,P.G., Wilcken,B., Christodoulou,J., Brown,G.K.,
            Ryan,M.T., Bahlo,M. and Thorburn,D.R.
  TITLE     A founder mutation in PET100 causes isolated complex IV deficiency
            in Lebanese individuals with Leigh syndrome
  JOURNAL   Am J Hum Genet 94 (2), 209-222 (2014)
   PUBMED   24462369
  REMARK    GeneRIF: We identify PET100 as a complex IV biogenesis factor in
            humans and characterize its location and role in mitochondria.We
            found PET100 (MIM 614770) mutations in ten Lebanese individuals
            with Leigh syndrome and isolated complex IV deficiency.
REFERENCE   4  (bases 1 to 663)
  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    GeneRIF: COX assembly candidate, ortholog of fungal PET100
            GeneRIF: Protein identified in mammalian mitochondria
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 663)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (bases 1 to 663)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD641681.1, BU740873.1 and
            AC008763.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001171155.1.
            
            Summary: Mitochondrial complex IV, or cytochrome c oxidase, is a
            large transmembrane protein complex that is part of the respiratory
            electron transport chain of mitochondria. The small protein encoded
            by this gene plays a role in the biogenesis of mitochondrial
            complex IV. This protein localizes to the inner mitochondrial
            membrane and is exposed to the intermembrane space. Mutations in
            this gene are associated with mitochondrial complex IV deficiency.
            This gene has a pseudogene on chromosome 3. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Apr
            2014].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CB162948.1, HY216625.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000594797.6/ ENSP00000470539.1
            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
            1-323               CD641681.1         3-325
            324-331             BU740873.1         18-25               c
            332-663             AC008763.9         62437-62768
FEATURES             Location/Qualifiers
     source          1..663
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..663
                     /gene="PET100"
                     /gene_synonym="C19orf79; MC4DN12"
                     /note="PET100 cytochrome c oxidase chaperone"
                     /db_xref="GeneID:100131801"
                     /db_xref="HGNC:HGNC:40038"
                     /db_xref="MIM:614770"
     exon            1..68
                     /gene="PET100"
                     /gene_synonym="C19orf79; MC4DN12"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..263
                     /gene="PET100"
                     /gene_synonym="C19orf79; MC4DN12"
                     /note="PET100 homolog"
                     /codon_start=1
                     /product="protein PET100 homolog, mitochondrial"
                     /protein_id="NP_001164626.1"
                     /db_xref="CCDS:CCDS54208.1"
                     /db_xref="GeneID:100131801"
                     /db_xref="HGNC:HGNC:40038"
                     /db_xref="MIM:614770"
                     /translation="MGVKLEIFRMIIYLTFPVAMFWVSNQAEWFEDDVIQRKRELWPP
                     EKLQEIEEFKERLRKRREEKLLRDAQQNS"
     exon            69..155
                     /gene="PET100"
                     /gene_synonym="C19orf79; MC4DN12"
                     /inference="alignment:Splign:2.1.0"
     exon            156..179
                     /gene="PET100"
                     /gene_synonym="C19orf79; MC4DN12"
                     /inference="alignment:Splign:2.1.0"
     exon            180..663
                     /gene="PET100"
                     /gene_synonym="C19orf79; MC4DN12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      301..306
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PET100"
                     /gene_synonym="C19orf79; MC4DN12"
                     /note="hexamer: AATATA"
     polyA_site      336
                     /gene="PET100"
                     /gene_synonym="C19orf79; MC4DN12"
                     /note="major polyA site"
ORIGIN      
        1 ggctttgggc ggaactggct ttgttgaccg ggagaaacga gatgggggtg aagctggaga
       61 tatttcggat gataatctac ctcactttcc ctgtggctat gttctgggtt tccaatcagg
      121 ccgagtggtt tgaggacgat gtcatacagc gcaagaggga gctgtggcca cctgagaagc
      181 ttcaagagat agaggaattc aaagagaggt tacggaagcg gcgggaggag aagctccttc
      241 gcgacgccca gcagaactcc tgaggcctcc aagtgggagt cctagcccct cccctgatga
      301 aatatacata tactcagttc cttgttattc atttaagtgt tttattcttt tatcagtttt
      361 tgggggccga gtgagaccca ggatgcctca ggccctcagg gggcttgtgt cgggggctgg
      421 gggctgctgt tccgacggaa gccgagagcg gtcgggtcct gaggggtgag caggggttgg
      481 ggactgaggg tcccagctcg tttctgtgct ccgtcctgtg gatgaagagg ggtcagccag
      541 ggggagggct caagggcagt gccggccaca ggtggcgaac aatggagaga gggtgcaggt
      601 agccaccgtg tcccacctca ttgtgagcac tggtctatgt ttaccctcaa tatctgccat
      661 tta
//
