LOCUS       NM_001271862            1815 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens PARN like ribonuclease domain containing exonuclease 1
            (PNLDC1), transcript variant 1, mRNA.
ACCESSION   NM_001271862
VERSION     NM_001271862.2
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 1815)
  AUTHORS   Cheng,Z.X., Du,L. and He,Z.
  TITLE     The role of homozygous LOF variant of the PNLDC1 gene in
            oligo-astheno-teratozoospermia (OAT) and male infertility
  JOURNAL   Asian J Androl 25 (6), 754-755 (2023)
   PUBMED   37282384
  REMARK    GeneRIF: The role of homozygous LOF variant of the PNLDC1 gene in
            oligo-astheno-teratozoospermia (OAT) and male infertility.
REFERENCE   2  (bases 1 to 1815)
  AUTHORS   Chen,S., Wu,Y., Wang,S., Wu,J., Wu,X. and Zheng,Z.
  TITLE     A risk model of gene signatures for predicting platinum response
            and survival in ovarian cancer
  JOURNAL   J Ovarian Res 15 (1), 39 (2022)
   PUBMED   35361267
  REMARK    GeneRIF: A risk model of gene signatures for predicting platinum
            response and survival in ovarian cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1815)
  AUTHORS   Nagirnaja,L., Morup,N., Nielsen,J.E., Stakaitis,R.,
            Golubickaite,I., Oud,M.S., Winge,S.B., Carvalho,F., Aston,K.I.,
            Khani,F., van der Heijden,G.W., Marques,C.J., Skakkebaek,N.E.,
            Rajpert-De Meyts,E., Schlegel,P.N., Jorgensen,N., Veltman,J.A.,
            Lopes,A.M., Conrad,D.F. and Almstrup,K.
  TITLE     Variant PNLDC1, Defective piRNA Processing, and Azoospermia
  JOURNAL   N Engl J Med 385 (8), 707-719 (2021)
   PUBMED   34347949
REFERENCE   4  (bases 1 to 1815)
  AUTHORS   Nishimura,T., Nagamori,I., Nakatani,T., Izumi,N., Tomari,Y.,
            Kuramochi-Miyagawa,S. and Nakano,T.
  TITLE     PNLDC1, mouse pre-piRNA Trimmer, is required for meiotic and
            post-meiotic male germ cell development
  JOURNAL   EMBO Rep 19 (3) (2018)
   PUBMED   29444933
REFERENCE   5  (bases 1 to 1815)
  AUTHORS   Bouwkamp,C.G., Kievit,A.J., Olgiati,S., Breedveld,G.J.,
            Coesmans,M., Bonifati,V. and Kushner,S.A.
  TITLE     A balanced translocation disrupting BCL2L10 and PNLDC1 segregates
            with affective psychosis
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 174 (3), 214-219 (2017)
   PUBMED   27260655
  REMARK    GeneRIF: we describe the identification of a structural genetic
            variant segregating with affective psychosis in a family with
            multiple members suffering from bipolar I disorder. Using
            whole-genome sequencing, we delineated the translocation
            breakpoints as corresponding intragenic events disrupting BCL2L10
            and PNLDC1. These data warrant further consideration for BCL2L10
            and PNLDC1 as novel candidates for affective psychosis.
REFERENCE   6  (bases 1 to 1815)
  AUTHORS   Anastasakis,D., Skeparnias,I., Shaukat,A.N., Grafanaki,K.,
            Kanellou,A., Taraviras,S., Papachristou,D.J., Papakyriakou,A. and
            Stathopoulos,C.
  TITLE     Mammalian PNLDC1 is a novel poly(A) specific exonuclease with
            discrete expression during early development
  JOURNAL   Nucleic Acids Res 44 (18), 8908-8920 (2016)
   PUBMED   27515512
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK093139.1, AK097559.1 and BM666663.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001271862.1.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK093139.1, SRR1660803.195372.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392167.4/ ENSP00000376007.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               AK093139.1         5-215
            212-1814            AK097559.1         318-1920
            1815-1815           BM666663.1         18-18               c
FEATURES             Location/Qualifiers
     source          1..1815
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     gene            1..1815
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /note="PARN like ribonuclease domain containing
                     exonuclease 1"
                     /db_xref="GeneID:154197"
                     /db_xref="HGNC:HGNC:21185"
                     /db_xref="MIM:619529"
     exon            1..108
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..1628
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /EC_number="3.1.13.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     poly(A)-specific ribonuclease PARN-like domain-containing
                     protein 1; poly(A)-specific ribonuclease (PARN)-like
                     domain containing 1; poly(A)-specific ribonuclease
                     domain-containing protein 1; poly(A)-specific ribonuclease
                     PNLDC1; PARN like, ribonuclease domain containing 1"
                     /codon_start=1
                     /product="poly(A)-specific ribonuclease PNLDC1 isoform 1"
                     /protein_id="NP_001258791.1"
                     /db_xref="CCDS:CCDS5271.2"
                     /db_xref="GeneID:154197"
                     /db_xref="HGNC:HGNC:21185"
                     /db_xref="MIM:619529"
                     /translation="MDVGADEFEESLPLLQELVQEADFVGLDIEFTGLRSNLSGPQQI
                     SLFDLPSEWYLKTRQSVQQFTVCQIGLSVFSAIEGEANKYIAHSCNFYLFPTTFGILD
                     SEFSFQASSVQFLNQYGFNYNKFLKNGIPYMNEEQEKKIRHDILTGNWRVRSSPDKDQ
                     IKVVIDEVTRWLELAKEGDWMTLPGITGFQAFEVQLVLRQALPNIWTVLKDEGVVVKK
                     VSKQHRWYLQNTSCDRESCWKENILLSARGFSVFFQMLVKAQKPLVGHNMMMDLLHLH
                     EKFFRPLPESYDQFKQNIHSLFPVLIDTKSVTKDIWKEMNFPRVSNLSEVYEVLNSDL
                     NPTKNSGPEIVHASRCEKYVETKCPHEAAYDAFLCGSVLLKVAHLLLQKIYHIDPVPE
                     SSFPQYLDVLAPYVNQVNLIRAGVPKINFSGPDYPSIRPPILILSVKRWPGVSEQQVY
                     HKFQNLCKFDVRRLTRSQFLLLTNKFKDARNILKEYRDHPTLCISLYRYWRHSPNVNC
                     LLQVCGIVTAWALLAFILGRSGT"
     exon            109..166
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            167..240
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            241..280
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            281..404
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            405..493
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            494..594
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            595..671
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            672..815
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            816..885
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            886..971
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            972..1027
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1092
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1146
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1189
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1289
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1465
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1564
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1815
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1791..1796
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /note="hexamer: GATAAA"
     polyA_site      1815
                     /gene="PNLDC1"
                     /gene_synonym="HsPNLDC1; SPGF57; Trimmer"
                     /note="major polyA site"
ORIGIN      
        1 agcgctgggc gactccgcgg agctgcacgg ccatggacgt gggcgccgac gagttcgagg
       61 agagcctccc tctgctgcag gagctcgtcc aggaggccga cttcgtgggt ctggacatag
      121 agttcacggg ccttcgttct aacctgtctg ggccccagca gatcagtctt tttgatttgc
      181 catcggagtg gtatctaaag acccgtcaga gtgttcagca atttacagtc tgtcagattg
      241 gattgtctgt gttttccgct attgaaggag aggcaaacaa gtatatagcc cattcttgta
      301 acttctatct cttccctaca acgtttggga ttttggactc agaattctcc ttccaggctt
      361 ccagtgttca gtttttgaat cagtatggct tcaactataa caagtttctc aaaaacggaa
      421 tcccatatat gaatgaagaa caggagaaga aaattagaca cgatatcctg actgggaact
      481 ggagagttcg cagctctccg gataaagacc aaatcaaggt ggtgattgac gaagtgacgc
      541 ggtggctgga gctggccaag gaaggcgact ggatgactct tcctgggatc actggcttcc
      601 aggcctttga ggtccaactg gtgctgaggc aggccctccc caacatctgg acggtgctga
      661 aagatgaggg ggtggtagtg aagaaagtga gtaaacaaca tcgttggtat cttcagaaca
      721 cctcttgtga ccgagagagc tgttggaagg aaaatattct tctctcagca aggggttttt
      781 ctgtcttttt ccaaatgctg gtgaaagccc agaagccctt agtgggacat aatatgatga
      841 tggacctgct gcacctccat gagaagttct tcagacccct cccagaaagc tacgatcaat
      901 ttaagcagaa tatccacagc ctatttcctg ttctcattga taccaagagt gtaacaaagg
      961 atatctggaa ggagatgaat ttcccgaggg tgtcgaatct ttcggaagtc tatgaagtcc
     1021 tgaacagtga cttgaatccc accaagaatt ctggaccaga gattgttcac gcgagcaggt
     1081 gtgagaaata tgttgagaca aagtgccccc acgaagccgc gtatgatgcc ttcctctgtg
     1141 ggtcagttct tttgaaagtg gcacacttgc ttctacagaa gatataccac atcgaccccg
     1201 tgcccgagtc atcctttcct cagtaccttg acgtgctggc tccttacgtg aaccaagtga
     1261 acctcatccg agcgggggtc ccaaagatca atttttctgg tccagattat cccagtatcc
     1321 gacctcccat cctcatcctc agcgtcaaaa ggtggcctgg ggtcagcgag cagcaagtct
     1381 accataagtt tcagaatctc tgcaagtttg atgtcaggcg actcacaaga agccagttct
     1441 tactcctgac caataagttt aaggatgcgc ggaacatcct gaaggagtac cgggaccacc
     1501 cgaccctgtg catctccctg taccgctact ggaggcactc cccaaacgtc aactgcctgc
     1561 tccaagtctg tggcatagtg actgcctggg cccttctcgc gttcatcctt ggaagatctg
     1621 gtacctgagt gcagcgaggc ctcctgcggc caccctcggg tccccatgct ctctgggagg
     1681 tgtgctgggt gtgttcgtgt aaatcagatt ctgtttgcag atggatctgt ttggtctttt
     1741 ctagaaattc tgttatgtcc tgaacgtgaa attctgtcaa cactctcaat gataaatcag
     1801 tccttagata tcgta
//
