LOCUS       NM_001164811            1151 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens PET117 cytochrome c oxidase chaperone (PET117), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001164811
VERSION     NM_001164811.2
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 1151)
  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 1151)
  AUTHORS   Renkema,G.H., Visser,G., Baertling,F., Wintjes,L.T., Wolters,V.M.,
            van Montfrans,J., de Kort,G.A.P., Nikkels,P.G.J., van Hasselt,P.M.,
            van der Crabben,S.N. and Rodenburg,R.J.T.
  TITLE     Mutated PET117 causes complex IV deficiency and is associated with
            neurodevelopmental regression and medulla oblongata lesions
  JOURNAL   Hum Genet 136 (6), 759-769 (2017)
   PUBMED   28386624
  REMARK    GeneRIF: case presentation thus implicates mutations in PET117 as a
            novel cause of mitochondrial disease
REFERENCE   3  (bases 1 to 1151)
  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   4  (bases 1 to 1151)
  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: Ortholog of fungal COX assembly protein PET117
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1151)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI601826.1, AY358666.1 and BM984163.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001164811.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.127921.1,
                                           SRR1803615.450006.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000432901.4/ ENSP00000397881.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-85                BI601826.1         14-98
            86-768              AY358666.1         1-683
            769-1151            BM984163.1         16-398              c
FEATURES             Location/Qualifiers
     source          1..1151
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     gene            1..1151
                     /gene="PET117"
                     /gene_synonym="CSRP2BP; MC4DN19"
                     /note="PET117 cytochrome c oxidase chaperone"
                     /db_xref="GeneID:100303755"
                     /db_xref="HGNC:HGNC:40045"
                     /db_xref="MIM:614771"
     exon            1..189
                     /gene="PET117"
                     /gene_synonym="CSRP2BP; MC4DN19"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..339
                     /gene="PET117"
                     /gene_synonym="CSRP2BP; MC4DN19"
                     /note="protein PET117 homolog, mitochondrial; alternative
                     protein CSRP2BP"
                     /codon_start=1
                     /product="protein PET117 homolog, mitochondrial precursor"
                     /protein_id="NP_001158283.1"
                     /db_xref="CCDS:CCDS54450.1"
                     /db_xref="GeneID:100303755"
                     /db_xref="HGNC:HGNC:40045"
                     /db_xref="MIM:614771"
                     /translation="MSRSSKVVLGLSVLLTAATVAGVHVKQQWDQQRLRDGVIRDIER
                     QIRKKENIRLLGEQIILTEQLEAEREKMLLAKGSQKS"
     exon            190..1151
                     /gene="PET117"
                     /gene_synonym="CSRP2BP; MC4DN19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1129..1134
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PET117"
                     /gene_synonym="CSRP2BP; MC4DN19"
                     /note="hexamer: AATAAA"
     polyA_site      1151
                     /gene="PET117"
                     /gene_synonym="CSRP2BP; MC4DN19"
                     /note="major polyA site"
ORIGIN      
        1 gagcctgggc agtacaggcg gcggtgcgca ctctgcggcg gcctctgcgc ctcgggcggg
       61 cgggagagag aggccgcggc cgccagcgtg gggatgtcta ggagctcgaa ggtggtgctg
      121 ggcctctcgg tgctgctgac ggcggccaca gtggccggcg tacatgtgaa gcagcagtgg
      181 gaccagcaga ggcttcgtga cggagttatc agagacattg agaggcaaat tcggaaaaaa
      241 gaaaacattc gtcttttggg agaacagatt attttgactg agcaacttga agcagaaaga
      301 gagaagatgt tattggcaaa aggatctcaa aaatcatgac ttgaatgtga aatatctgtt
      361 ggacagacaa cacgagtttg tgtgtgtgtg ttgatggaga gtagcttagt agtatcttca
      421 tctttttttt tggtcactgt ccttttaaac ttgatcaaat aaaggacagt gggtcatata
      481 agttactgct ttcagggtcc cttatatctg aataaaggag tgtgggcaga cactttttgg
      541 aagagtctgt ctgggtgatc ctggtagaag ccccattagg gtcactgtcc agtgcttagg
      601 gttgttactg agaagcactg ccgagcttgt gagaaggaag ggatggatag tagcatccac
      661 ctgagtagtc tgatcagtcg gcatgatgac gaagccacga gaacatcgac ctcagaagga
      721 ctggaggaag gtgaagtgga gggagagacg ctcctgatcg tcgaatccga ggatcaggca
      781 tcagtggact tatcgcacga ccagagtggg gattccctca acagtgatga aggagacgtg
      841 tcttggatgg aggagcagct gtcctacttc tgtgacaagt gccaaaaatg gataccagcc
      901 agtaaggagc ttctcaattc ctttgatttg tcaattcctg tgtgaaggtt tgtttttcca
      961 acctgtgaaa gaaacgtgaa tgtaaaagag acctaaataa aaggataatt atatttattc
     1021 tctagttgat cagctataaa tttatataaa acataggcat gtttgtacta atgaaacgta
     1081 ctgtcaacct ctatcacatt gttaaattaa cacttttggt ggtaactcaa taaaattgag
     1141 aaaattggaa a
//
