LOCUS       NM_001013663            1120 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens peptidyl-tRNA hydrolase domain containing 1 (PTRHD1),
            mRNA.
ACCESSION   NM_001013663 XM_372919
VERSION     NM_001013663.2
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 1120)
  AUTHORS   Li,C., Ou,R., Hou,Y., Chen,Y., Wei,Q., Zhang,L., Lin,J., Liu,K.,
            Huang,J., Chen,X., Song,W., Zhao,B., Wu,Y. and Shang,H.
  TITLE     Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the
            Chinese Population
  JOURNAL   J Parkinsons Dis 12 (6), 1917-1920 (2022)
   PUBMED   35848037
  REMARK    GeneRIF: Rare Variant Analysis of PTRHD1 in Parkinson's Disease in
            the Chinese Population.
REFERENCE   2  (bases 1 to 1120)
  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   3  (bases 1 to 1120)
  AUTHORS   Sosero,Y.L., Bandres-Ciga,S., Gan-Or,Z. and Krohn,L.
  CONSRTM   IPDGC
  TITLE     Analysis of PTRHD1 common and rare variants in European patients
            with Parkinson's disease
  JOURNAL   Neurobiol Aging 107, 178-180 (2021)
   PUBMED   34246528
  REMARK    GeneRIF: Analysis of PTRHD1 common and rare variants in European
            patients with Parkinson's disease.
REFERENCE   4  (bases 1 to 1120)
  AUTHORS   Chen,S.J., Ho,C.H., Lin,H.Y., Lin,C.H. and Wu,R.M.
  TITLE     Lack of PTRHD1 mutation in patients with young-onset and familial
            Parkinson's disease in a Taiwanese population
  JOURNAL   Neurobiol Aging 100, 118 (2021)
   PUBMED   33004232
  REMARK    GeneRIF: Lack of PTRHD1 mutation in patients with young-onset and
            familial Parkinson's disease in a Taiwanese population.
REFERENCE   5  (bases 1 to 1120)
  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   6  (bases 1 to 1120)
  AUTHORS   Khodadadi,H., Azcona,L.J., Aghamollaii,V., Omrani,M.D.,
            Garshasbi,M., Taghavi,S., Tafakhori,A., Shahidi,G.A., Jamshidi,J.,
            Darvish,H. and Paisan-Ruiz,C.
  TITLE     PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual
            disability and parkinsonism
  JOURNAL   Mov Disord 32 (2), 287-291 (2017)
   PUBMED   27753167
  REMARK    GeneRIF: PTRHD1 mutation leads to intellectual disability and
            parkinsonism in a consanguineous family.
REFERENCE   7  (bases 1 to 1120)
  AUTHORS   Burks,G.L., McFeeters,H. and McFeeters,R.L.
  TITLE     Expression, purification, and buffer solubility optimization of the
            putative human peptidyl-tRNA hydrolase PTRHD1
  JOURNAL   Protein Expr Purif 126, 49-54 (2016)
   PUBMED   27235175
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013459.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 12, 2020 this sequence version replaced NM_001013663.1.
            
            Summary: This gene encodes the enzyme peptidyl-tRNA hydrolase.
            Peptidyl-tRNA hydrolases perform the essential function of
            recycling peptidyl-tRNAs. Mutations in this gene are associated
            with autosomal-recessive intellectual disability and parkinsonism.
            [provided by RefSeq, May 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3533631.1, BG822994.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328379.6/ ENSP00000330389.4
            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
            1-266               AC013459.9         164523-164788       c
            267-1120            AC013459.9         161125-161978       c
FEATURES             Location/Qualifiers
     source          1..1120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1120
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /note="peptidyl-tRNA hydrolase domain containing 1"
                     /db_xref="GeneID:391356"
                     /db_xref="HGNC:HGNC:33782"
                     /db_xref="MIM:617342"
     exon            1..266
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..437
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /EC_number="3.1.1.29"
                     /note="peptidyl-tRNA hydrolase domain-containing protein
                     1"
                     /codon_start=1
                     /product="putative peptidyl-tRNA hydrolase PTRHD1"
                     /protein_id="NP_001013685.1"
                     /db_xref="CCDS:CCDS33156.1"
                     /db_xref="GeneID:391356"
                     /db_xref="HGNC:HGNC:33782"
                     /db_xref="MIM:617342"
                     /translation="MHRGVGPAFRVVRKMAASGAEPQVLVQYLVLRKDLSQAPFSWPA
                     GALVAQACHAATAALHTHRDHPHTAAYLQELGRMRKVVLEAPDETTLKELAETLQQKN
                     IDHMLWLEQPENIATCIALRPYPKEEVGQYLKKFRLFK"
     exon            267..1120
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      562..567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /note="hexamer: ATTAAA"
     polyA_site      584
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /note="major polyA site"
     regulatory      838..843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /note="hexamer: ATTAAA"
     polyA_site      878
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
     regulatory      1025..1030
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /note="hexamer: TATAAA"
     polyA_site      1049
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
     regulatory      1098..1103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
                     /note="hexamer: AATGAA"
     polyA_site      1120
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79; NEDPBA"
ORIGIN      
        1 gccctgatcc caagatgcac cggggagtag gtccggcctt tcgggtggtc aggaagatgg
       61 cggcctctgg ggcggagccg caggtcctgg tacaatactt ggtgttacga aaggatctat
      121 cacaagctcc gttctcctgg ccggcgggcg cactggtagc gcaggcttgt cacgcggcca
      181 ccgcggcctt gcacactcac cgcgaccacc cgcacacagc cgcttacctc caagagctgg
      241 ggcgcatgcg caaagtggtc ctcgaggccc cagatgagac caccctaaag gagctggccg
      301 agaccctgca acagaagaac attgaccaca tgctgtggct tgagcaacca gagaatatcg
      361 ccacttgtat tgctctccgg ccctacccca aggaagaagt gggccagtat ttgaagaagt
      421 tccgattgtt caagtaactg ctgctttgat gtgtttgaat acgcaggcca cccattccaa
      481 agcatcatgt gttccttgca gtgtcagctt gctcccgtct ttcagttgtg acaatttctt
      541 gagggttaag cacatgttca tattaaagtt gtcattaata actacttcct cttattaata
      601 agttcaagtg gggaaggtgg gagagcagta ttgtctgggg atcattgctc aaatagaaga
      661 tttggttaga ctctcctgtg gggctcaagg aaactccctt ccagtcactc gggtttgaaa
      721 ctttgctttt gaattccttc ttattcacat ccagttatca tatttcattg aatctaagat
      781 aacatcaact ttaagatgcg gtagtatttt atgtattgtt aaaaaatatg ccggcaaatt
      841 aaacacttgt atttcaataa caaagatgtt aaaatttggc cagtgtggtg gctcacatct
      901 gttaattcca gggttttggg aagccaaggc aggaggatcg cttgagccca tgagttcaag
      961 gttacagtca gttctaatca tgccaccgca ctccagcctg ggcaacagag tgagacactg
     1021 tctctataaa gattaataac aagttaaaat ttgtgtgtgt ctatatatat gtacatacat
     1081 acagatttat tagattcaat gaaatctgtc aagtactaca
//
