LOCUS       NM_015545               5464 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens pentatricopeptide repeat domain 1 (PTCD1), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_015545
VERSION     NM_015545.4
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 5464)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5464)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   3  (bases 1 to 5464)
  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   4  (bases 1 to 5464)
  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   5  (bases 1 to 5464)
  AUTHORS   Fleck,D., Phu,L., Verschueren,E., Hinkle,T., Reichelt,M.,
            Bhangale,T., Haley,B., Wang,Y., Graham,R., Kirkpatrick,D.S.,
            Sheng,M. and Bingol,B.
  TITLE     PTCD1 Is Required for Mitochondrial Oxidative-Phosphorylation:
            Possible Genetic Association with Alzheimer's Disease
  JOURNAL   J Neurosci 39 (24), 4636-4656 (2019)
   PUBMED   30948477
  REMARK    GeneRIF: reduced PTCD1 activity disrupts neuronal energy
            homeostasis and dampens spontaneous neural transmission in
            Alzheimer's Disease
REFERENCE   6  (bases 1 to 5464)
  AUTHORS   Schild,C., Hahn,D., Schaller,A., Jackson,C.B.,
            Rothen-Rutishauser,B., Mirkovitch,J. and Nuoffer,J.M.
  TITLE     Mitochondrial leucine tRNA level and PTCD1 are regulated in
            response to leucine starvation
  JOURNAL   Amino Acids 46 (7), 1775-1783 (2014)
   PUBMED   24710704
  REMARK    GeneRIF: Leucine starvation decreased PTCD1 on the protein level.
REFERENCE   7  (bases 1 to 5464)
  AUTHORS   Lightowlers,R.N. and Chrzanowska-Lightowlers,Z.M.
  TITLE     Human pentatricopeptide proteins: only a few and what do they do?
  JOURNAL   RNA Biol 10 (9), 1433-1438 (2013)
   PUBMED   23635806
  REMARK    Review article
REFERENCE   8  (bases 1 to 5464)
  AUTHORS   Rackham,O. and Filipovska,A.
  TITLE     The role of mammalian PPR domain proteins in the regulation of
            mitochondrial gene expression
  JOURNAL   Biochim Biophys Acta 1819 (9-10), 1008-1016 (2012)
   PUBMED   22051507
REFERENCE   9  (bases 1 to 5464)
  AUTHORS   Sanchez,M.I., Mercer,T.R., Davies,S.M., Shearwood,A.M.,
            Nygard,K.K., Richman,T.R., Mattick,J.S., Rackham,O. and
            Filipovska,A.
  TITLE     RNA processing in human mitochondria
  JOURNAL   Cell Cycle 10 (17), 2904-2916 (2011)
   PUBMED   21857155
  REMARK    GeneRIF: ELAC2 and PTCD1 affect the 3' end processing of tRNAs.
REFERENCE   10 (bases 1 to 5464)
  AUTHORS   Rackham,O., Davies,S.M., Shearwood,A.M., Hamilton,K.L., Whelan,J.
            and Filipovska,A.
  TITLE     Pentatricopeptide repeat domain protein 1 lowers the levels of
            mitochondrial leucine tRNAs in cells
  JOURNAL   Nucleic Acids Res 37 (17), 5859-5867 (2009)
   PUBMED   19651879
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA770648.1 and AB014532.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_015545.3.
            
            Summary: This gene encodes a mitochondrial protein that binds
            leucine tRNAs and other mitochondrial RNAs and plays a role in the
            regulation of translation. Increased expression of this gene
            results in decreased mitochondrial leucine tRNA levels. Naturally
            occurring read-through transcription exists between upstream ATP5J2
            (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit
            F2) and this gene. [provided by RefSeq, Aug 2015].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB014532.1, SRR1803611.45229.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 19651879
            MANE Ensembl match                 :: ENST00000292478.9/
                                                  ENSP00000292478.5
            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
            1-51                DA770648.1         42-92
            52-5464             AB014532.1         1-5413
FEATURES             Location/Qualifiers
     source          1..5464
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..5464
                     /gene="PTCD1"
                     /note="pentatricopeptide repeat domain 1"
                     /db_xref="GeneID:26024"
                     /db_xref="HGNC:HGNC:22198"
                     /db_xref="MIM:614774"
     exon            1..107
                     /gene="PTCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            108..586
                     /gene="PTCD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..2236
                     /gene="PTCD1"
                     /codon_start=1
                     /product="pentatricopeptide repeat-containing protein 1,
                     mitochondrial"
                     /protein_id="NP_056360.2"
                     /db_xref="CCDS:CCDS34691.1"
                     /db_xref="GeneID:26024"
                     /db_xref="HGNC:HGNC:22198"
                     /db_xref="MIM:614774"
                     /translation="MDFVRLARLFARARPMGLFILQHLDPCRARWAGGREGLMRPMWA
                     PFSSSSSQLPLGQERQENTGSLGSDPSHSNSTATQEEDEEEEESFGTLSDKYSSRRLF
                     RKSAAQFHNLRFGERRDEQMEPEPKLWRGRRNTPYWYFLQCKHLIKEGKLVEALDLFE
                     RQMLKEERLQPMESNYTVLIGGCGRVGYLKKAFNLYNQMKKRDLEPSDATYTALFNVC
                     AESPWKDSALQSALKLRQQLQAKNFELNLKTYHALLKMAAKCADLRMCLDVFKEIIHK
                     GHVVTEETFSFLLMGCIQDKKTGFRYALQVWRLMLSLGLQPSRDSYNLLLVAARDCGL
                     GDPQVASELLLKPREEATVLQPPVSRQRPRRTAQAKAGNLMSAMLHVEALERQLFLEP
                     SQALGPPEPPEARVPGKAQPEVDTKAEPSHTAALTAVALKPPPVELEVNLLTPGAVPP
                     TVVSFGTVTTPADRLALIGGLEGFLSKMAEHRQQPDIRTLTLLAEVVESGSPAESLLL
                     ALLDEHQVEADLTFFNTLVRKKSKLGDLEGAKALLPVLAKRGLVPNLQTFCNLAIGCH
                     RPKDGLQLLTDMKKSQVTPNTHIYSALINAAIRKLNYTYLISILKDMKQNRVPVNEVV
                     IRQLEFAAQYPPTFDRYQGKNTYLEKIDGFRAYYKQWLTVMPAEETPHPWQKFRTKPQ
                     GDQDTGKEADDGCALGGR"
     exon            587..727
                     /gene="PTCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            728..946
                     /gene="PTCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1048
                     /gene="PTCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1870
                     /gene="PTCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1871..2053
                     /gene="PTCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            2054..5464
                     /gene="PTCD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3070..3075
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTCD1"
                     /note="hexamer: AAGAAA"
     regulatory      3076..3081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTCD1"
                     /note="hexamer: AAGAAA"
     polyA_site      3081
                     /gene="PTCD1"
                     /note="major polyA site"
     polyA_site      3095
                     /gene="PTCD1"
     regulatory      3390..3395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTCD1"
                     /note="hexamer: AGTAAA"
     polyA_site      3417
                     /gene="PTCD1"
     polyA_site      4743
                     /gene="PTCD1"
ORIGIN      
        1 ggattgcgcc tgcgcgcttg gggagagggg gacccgagga agagactggt tcgccgcggg
       61 gaccgggcag ggctccccgt cggagtgcac tgcgccggac acttcaagcc ctggagggac
      121 aggaaagcca gaaatggact tcgtgagact cgctcgactg ttcgccaggg cccgccccat
      181 gggactgttc atcctgcaac acctggaccc ctgtagagcc aggtgggcag gaggcaggga
      241 ggggctgatg cggccaatgt gggcgccctt cagcagctcc tcctctcagc tgcccctcgg
      301 ccaggagcgt caggaaaaca cgggcagcct gggctctgac ccgagccact ccaactccac
      361 ggccacgcag gaagaagacg aggaggagga ggagagtttt gggaccctct ctgacaaata
      421 ctcctcccgg agactattcc gcaaatccgc agcccagttc cataacctgc ggtttgggga
      481 acggagagat gagcaaatgg aaccggagcc caaattatgg cgaggccgga gaaacacccc
      541 gtactggtac ttcttgcagt gcaaacacct gatcaaggaa gggaagctgg ttgaagccct
      601 ggacctgttt gagaggcaga tgctgaagga ggagcgattg cagcccatgg agagcaacta
      661 cacggtgctg attgggggct gcgggcgggt tggctacctg aagaaggcct tcaacctcta
      721 caaccagatg aaaaagcggg acctggagcc ctcggacgcc acctacacgg ccctgttcaa
      781 cgtctgtgcc gagtccccct ggaaggactc agctctacag agcgccctga agctccggca
      841 gcagctgcag gccaaaaact tcgagctcaa cttgaaaaca taccacgcgc tgctgaagat
      901 ggctgccaag tgcgcagacc ttaggatgtg cctcgatgtg ttcaaggaaa tcatccacaa
      961 agggcacgtg gtcacagagg agaccttcag tttcctgctc atgggctgca tccaagacaa
     1021 gaagacaggc ttccggtacg ccctccaggt gtggcggctg atgctgagtc tagggctaca
     1081 gccgagccgg gacagctaca acctgctgtt ggtggcagct cgggactgtg gcctagggga
     1141 cccccaggtg gcctcagagc tgcttctgaa gcccagggag gaggcgactg tgcttcagcc
     1201 cccagtgagc aggcagcggc caaggaggac agcccaggcc aaggcaggca acctcatgtc
     1261 agccatgctg catgtggagg ccctggagag gcagctgttt ctggaacctt ctcaggcact
     1321 tgggcctcca gagcctccgg aagccagagt gcccggcaag gcccaaccag aggtggatac
     1381 taaggcagag cccagccaca cagcagccct caccgcagtg gccctgaagc cacctcccgt
     1441 ggagctggaa gtcaacctcc tgacccccgg ggccgttccc cctacagtgg tctcctttgg
     1501 aacggtgacc accccagctg accggctggc cttgataggg ggcctggagg gcttcctgag
     1561 caagatggca gagcacaggc agcagcccga catcaggacc ctcacgctac tggccgaggt
     1621 ggtggagtcc gggagtcctg cagagtcctt gctgctggcc ctcctggatg agcaccaggt
     1681 agaggccgac ctgacattct ttaacacgct ggtgagaaag aagagcaagc tgggagacct
     1741 ggagggggcc aaggcgctgt tgccggtcct ggcaaagagg ggcctcgtcc ccaacctgca
     1801 gacattctgc aacctggcca tcgggtgcca caggccgaag gacggtctac agcttctcac
     1861 agacatgaag aagtcccagg tgacccccaa cactcacatc tacagtgccc tcatcaacgc
     1921 ggccatcagg aagctgaact acacctatct catcagcatc ttgaaggaca tgaagcagaa
     1981 cagggtcccg gtgaacgaag tggtcatccg ccagctggag tttgcagccc agtaccctcc
     2041 cacctttgac cggtaccaag ggaagaacac ctacctggag aagattgacg gcttccgagc
     2101 ctattacaag cagtggctga cagtgatgcc cgcagaggaa accccgcacc cctggcagaa
     2161 gttccggacc aagccccagg gggaccagga caccggcaag gaggctgatg acggatgtgc
     2221 ccttgggggc aggtgatggg agcacagctg gaacaatgtg ctcggccccc agtgctctgt
     2281 gggagcccca ggacaagtga gctggtgtca cctcctgcct gggggaagag ccaggccctg
     2341 aggaacagcc gcagcgtgtc acaggtgttg gtgaggacac acactaggcc caaggtgcct
     2401 gtgctcccag caggtccaag tgcagctcca gccacctttg cgtgtcacct tcacgggact
     2461 tccagctcca gctacctttg tgtgtcacct cacacaccac aagggggctg gggcatctgg
     2521 tccctggggc ctgggccgcc ccgccgggtt ccataggccg atgctctgaa agaagagacg
     2581 tggggctcga gagatttaaa gattttattt ttacaaatca cagctgatag acagcgaagc
     2641 cttccccata gagaccgtgc tccaactcgg gcctggggca ctgctcgctg ctcccaggaa
     2701 gggggtggcg tgacaggcag gaacctgcga agtccagagt ccagggtgga gcgcgccagc
     2761 ctcagccaga gcagccacga cagccacagt gtgtgcactc gatgatgcgg ccctgcaacg
     2821 gaggaggaca gtgagacgat gccactgcgc cacgctcgcc cctgcacact cacatatgtg
     2881 gcaaccctcc cacgaaggac ctgccaccat gccatatagg gacacacctc agaaaccctt
     2941 ccttgacagc tctggacagg gaaaatttgg ctccctcatg aaggtagaac cagctgctgt
     3001 tgacaccgag gttacatctg tatgtctatt tataatatgt tctgcaaatc caacacacgt
     3061 ttgccaatca agaaaaagaa atcggtgtga atgagtctcg ttattctgct aagtgagcat
     3121 gacagaccct gcgatgagca gacgtggctc tgctactgtt tggggacttc aggggggcct
     3181 ctgggctggt acactctggt gggggaagag ggcaggagac tatgcacttg agtcacaccc
     3241 ttctggccca gagcccccca gaaagaaggg tcttgtcccc caggcctggt gcggcccaac
     3301 acttggccag ccagaaagcc ctagaacagt ggcttgtgtt tattttactt tttcaagttc
     3361 tttttttgga agaacaagac catagtttaa gtaaacagga tcctctggtg aaacccaggt
     3421 aagtctacag cgggctgttt tggccacagg gctgaagcag caccccagcc caccagcccc
     3481 tgacctggac tccttgtgga atctgggcac tcagaggaag ggggcttctg ccactctgcc
     3541 acctgtccct gcctccatca gaaaaccaac accccagtct tccgtcgggg aggcggccct
     3601 tgctcgcccc cactgctcag tacccaagtc ctcagcatcc agccacagct ctccattgtc
     3661 agtctcactg cagcataaag gggactcatg tgaagaggcc cctgtgtgga gctggggaaa
     3721 agaaggccag gctggcagat gggcggtggg gccaacaact gtgctgaggg gctgcactga
     3781 gcggccactg ctgtgactct gcctcgggcc acagctgcct ttcagagggg cttggaaccg
     3841 gatggagctc agctcctgtc cctcagcacc actcctgagg cgcctggcct aggagtggta
     3901 cttggaacag aaagttctga aagaagaaac acagtgggct gggcgcagta gctcatgcct
     3961 gtaatcccgg cactttggga ggctgaggcg ggtggatcac ctgaggtcgg gagttcgaga
     4021 ccagcctgag caacattgag aaaccccgtc tctactaaaa atacaaaatt agccaggcgt
     4081 ggtggtgcat gcctgtagtc ccagctactc aggaggatga ggcaggagaa ccgcttgaac
     4141 ccgggaggtg gaggttgcag tgagccaaga tggcatcact gcactccagc ctgggcgaca
     4201 aagcaagact ccgtcttggg ggggcgggaa agatagtgat ggtaatgtta aagtatcact
     4261 gtgaggactg aaagggacag gaactcactg gttgtccttc cctgatgtca ccctgccacc
     4321 accttgggat tagggctccc caccaccatt tcctaagtga ggaaaggggt tcagtaattt
     4381 gcccaaaagt ggagttgaga ttgaccccag acctaacaaa cacacagcca cacgctgcct
     4441 cacatggatt cctgaataca gggacccact cccacgaggg agagccagca ggacatccag
     4501 ggacaaaacg acattccagc ccaaccaaat aacataagat cccttgcagt cgactaaggc
     4561 agaattttga gctgaaaaca acaccaagct tgagtgtcag acattaccac ttccagcttg
     4621 cttttgggca cgcggcagat gcagttcgtc ccgaagttgg tgtcccgtgt ctgaatgcac
     4681 cgcaggcagc acaagttctc atatccttgc tttttccatt ttgcaatcag gtttttgtct
     4741 gcatagcctt ctttaataca atattcatag agttctgtca aaaagatggg gaaagagcat
     4801 caggccatgg tctaaaaacc ttccccaccc ttgatcaaaa aaagcattca ggccgggtgc
     4861 agtggctcac acctgtaatc ccagcacttt gggaggccga ggcaggcgga tcacctgagg
     4921 tcaggagttc aggaccagcc cggccaacat ggtaaaaccc cgtctctact aaaaatacaa
     4981 aaattactcg ggcgtggtag cagctgtaat cccagctact taggaggctg aggcaggaga
     5041 atcacttgaa cccaggaggc ggaggttgta gtgacctgag gtcgtgccac tggactccag
     5101 cctgggtgac agcgaaactc catctcaaaa aaaaaaaggc attcagtatt gcaacgggac
     5161 agtccttgga ggaggaacaa aaaaaaaaag tacttaggcc aggcaaggtg cctcacacct
     5221 gtaatcccag cacttttgga agccaacgcc agaggatcat ttgagttaag aaaccagcct
     5281 gggccaaggg cccatctcca caaaaaattt aaaaattagc tgggtgtggt ggtgcacacc
     5341 tgtagtcaca gctactcagg aggttgaggt gagaggatcc cttgagccca gaaggttgag
     5401 gctgcagtga gccatcattg caccactgca ctccagcctg tggaacagag caagaccctg
     5461 tttc
//
