LOCUS       NM_052965               1907 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens tRNA splicing endonuclease subunit 15 (TSEN15),
            transcript variant 1, mRNA.
ACCESSION   NM_052965
VERSION     NM_052965.4
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 1907)
  AUTHORS   Sekulovski,S., Devant,P., Panizza,S., Gogakos,T., Pitiriciu,A.,
            Heitmeier,K., Ramsay,E.P., Barth,M., Schmidt,C., Tuschl,T.,
            Baas,F., Weitzer,S., Martinez,J. and Trowitzsch,S.
  TITLE     Assembly defects of human tRNA splicing endonuclease contribute to
            impaired pre-tRNA processing in pontocerebellar hypoplasia
  JOURNAL   Nat Commun 12 (1), 5610 (2021)
   PUBMED   34584079
  REMARK    GeneRIF: Assembly defects of human tRNA splicing endonuclease
            contribute to impaired pre-tRNA processing in pontocerebellar
            hypoplasia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1907)
  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   3  (bases 1 to 1907)
  AUTHORS   Breuss,M.W., Sultan,T., James,K.N., Rosti,R.O., Scott,E.,
            Musaev,D., Furia,B., Reis,A., Sticht,H., Al-Owain,M.,
            Alkuraya,F.S., Reuter,M.S., Abou Jamra,R., Trotta,C.R. and
            Gleeson,J.G.
  TITLE     Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease
            Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive
            Microcephaly
  JOURNAL   Am J Hum Genet 99 (1), 228-235 (2016)
   PUBMED   27392077
  REMARK    GeneRIF: results demonstrate that mutations in any known subunit of
            the TSEN complex can cause pontocerebellar hypoplasia and
            progressive microcephaly, emphasizing the importance of its
            function during brain development
            Erratum:[Am J Hum Genet. 2016 Sep 1;99(3):785. doi:
            10.1016/j.ajhg.2016.08.009.. PMID: 27588454]
REFERENCE   4  (bases 1 to 1907)
  AUTHORS   Rosenberg,M.A., Kaplan,R.C., Siscovick,D.S., Psaty,B.M.,
            Heckbert,S.R., Newton-Cheh,C. and Mukamal,K.J.
  TITLE     Genetic variants related to height and risk of atrial fibrillation:
            the cardiovascular health study
  JOURNAL   Am J Epidemiol 180 (2), 215-222 (2014)
   PUBMED   24944287
  REMARK    GeneRIF: A candidate SNP associated with the tRNA-splicing protein
            gene TSEN15 was independently associated with the risk of atrial
            fibrillation.
REFERENCE   5  (bases 1 to 1907)
  AUTHORS   Song,J. and Markley,J.L.
  TITLE     Three-dimensional structure determined for a subunit of human tRNA
            splicing endonuclease (Sen15) reveals a novel dimeric fold
  JOURNAL   J Mol Biol 366 (1), 155-164 (2007)
   PUBMED   17166513
REFERENCE   6  (bases 1 to 1907)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   7  (bases 1 to 1907)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   8  (bases 1 to 1907)
  AUTHORS   Paushkin,S.V., Patel,M., Furia,B.S., Peltz,S.W. and Trotta,C.R.
  TITLE     Identification of a human endonuclease complex reveals a link
            between tRNA splicing and pre-mRNA 3' end formation
  JOURNAL   Cell 117 (3), 311-321 (2004)
   PUBMED   15109492
REFERENCE   9  (bases 1 to 1907)
  AUTHORS   Sood,R., Bonner,T.I., Makalowska,I., Stephan,D.A., Robbins,C.M.,
            Connors,T.D., Morgenbesser,S.D., Su,K., Faruque,M.U., Pinkett,H.,
            Graham,C., Baxevanis,A.D., Klinger,K.W., Landes,G.M., Trent,J.M.
            and Carpten,J.D.
  TITLE     Cloning and characterization of 13 novel transcripts and the human
            RGS8 gene from the 1q25 region encompassing the hereditary prostate
            cancer (HPC1) locus
  JOURNAL   Genomics 73 (2), 211-222 (2001)
   PUBMED   11318611
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF288394.1 and BC022030.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_052965.3.
            
            Summary: This gene encodes a subunit of the tRNA splicing
            endonuclease, which catalyzes the removal of introns from tRNA
            precursors. Alternative splicing results in multiple transcript
            variants. There is a pseudogene of this gene on chromosome 17.
            [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF288394.1, BC022030.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645668.2/ ENSP00000493902.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1824              AF288394.1         55-1878
            1825-1907           BC022030.1         1849-1931
FEATURES             Location/Qualifiers
     source          1..1907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     gene            1..1907
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /note="tRNA splicing endonuclease subunit 15"
                     /db_xref="GeneID:116461"
                     /db_xref="HGNC:HGNC:16791"
                     /db_xref="MIM:608756"
     exon            1..161
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..542
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tRNA-splicing endonuclease subunit Sen15; tRNA splicing
                     endonuclease 15 homolog; tRNA-intron endonuclease Sen15;
                     TSEN15 tRNA splicing endonuclease subunit"
                     /codon_start=1
                     /product="tRNA-splicing endonuclease subunit Sen15 isoform
                     1"
                     /protein_id="NP_443197.1"
                     /db_xref="CCDS:CCDS1361.1"
                     /db_xref="GeneID:116461"
                     /db_xref="HGNC:HGNC:16791"
                     /db_xref="MIM:608756"
                     /translation="MEERGDSEPTPGCSGLGPGGVRGFGDGGGAPSWAPEDAWMGTHP
                     KYLEMMELDIGDATQVYVAFLVYLDLMESKSWHEVNCVGLPELQLICLVGTEIEGEGL
                     QTVVPTPITASLSHNRIREILKASRKLQGDPDLPMSFTLAIVESDSTIVYYKLTDGFM
                     LPDPQNISLRR"
     exon            162..243
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /inference="alignment:Splign:2.1.0"
     exon            244..379
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /inference="alignment:Splign:2.1.0"
     exon            380..521
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /inference="alignment:Splign:2.1.0"
     exon            522..1907
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1023..1028
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /note="hexamer: AGTAAA"
     polyA_site      1041
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
     regulatory      1884..1889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /note="hexamer: AATAAA"
     polyA_site      1907
                     /gene="TSEN15"
                     /gene_synonym="C1orf19; PCH2F; sen15"
                     /note="major polyA site"
ORIGIN      
        1 accacgggag cgccgcaccg gccggcatgg aggagcgcgg cgattccgag ccgacccccg
       61 gctgcagcgg cctgggtccg ggcggtgttc gcggctttgg cgacggcggt ggagctcctt
      121 cgtgggcccc tgaggacgcc tggatgggca ctcaccctaa gtatctagaa atgatggaat
      181 tagatatagg agatgccacc caagtttatg tagcgttctt ggtttacctg gacctcatgg
      241 aaagcaaaag ctggcatgaa gtaaactgtg taggattacc agaactccag ctcatctgcc
      301 ttgttggtac tgagatagaa ggggaggggt tacagactgt ggtgcctacc cccatcactg
      361 cttccctcag ccataacagg ataagggaga tcttgaaggc atctcgaaag ttgcaaggtg
      421 atccagattt gccgatgtct tttactttgg ccatagtgga gtctgattct acaatagtct
      481 attataaact tactgatgga tttatgctgc cagaccctca gaatatttct cttagaagat
      541 gacatccatg tttcctgatg cttgttttat tcatacaaga ttggatttga gacccatcag
      601 actgcttcat cttttatctc agaaataggg ttgacgtaca tagtgagggt tgacttcccc
      661 attccataag gttttcattc tgaagagtaa aacttcccca ggtagaagac tttctccttc
      721 ttaaaaaata tagggtgatt tctttaaaac tttgttatct agagacagtt taattacagt
      781 tatatacagg tttatgccta ggatgtattc agatgggtgg gacctgtgtg ctgcttttgt
      841 catcccacac tcaaagttgt ctctttgttt cttgctgcca ctgccagctc attgttgaga
      901 ctgccatttc tttctcttac tcagctctcc ccagtgcctt ttggccactg cagctaccgt
      961 agaatggcat tttatatgta ccttgtcacc cacttctgtt tactttttcc tctccagtaa
     1021 aaagtaaaag atttctttca attggtcttc ccattgcagt tactgttatt tctctttttt
     1081 ggttaacttt aaatcaaaac tcaaaatatg ttcatccaga gtgtgtctta agtaacttac
     1141 gtgtcttaag taacagggac cagagacatg ttacctacaa gagttctggg ctatcctttt
     1201 cattcttatc acatatcata gcttgaatat tacaacagtg tgggagagaa tcaaccgtaa
     1261 aaatgtcttc attaattaga cccagttatt ccacttttgt taatgtctct caaattgtac
     1321 aaagtataaa aaattatatg cacaaagatg ttccaagtga cattactttt agtagcccaa
     1381 attataaacc actttaaagt ttggggtaaa gattggcaaa ctttttctat aaagggccag
     1441 aaagtaacta ttttaggttt ttaaacctac tgtctctgtc ataacttgtc aacactgctg
     1501 tatgaagcac aaaagcagcc atagacaata cataaacaat acgggcgtgg ctttgttcca
     1561 gtaaaacttt gtttacaaat gtggtgccat agtttgtcat ccctgggtct aggaaatagt
     1621 caataaacag atatatacaa atgatacata atgtacttat taaaaattag taatgaatat
     1681 tattaaaaac atgaaaatat taccttaagt aaaaattgca agacggaaaa gtgtataagt
     1741 gggtgtaatc atggctgaaa taacagacca agcatatgat aaaaagataa caaagtaaat
     1801 caaattacta actggttata gtgggatagg aggcagaaaa tggatgactt tgtcttttct
     1861 caatgttttt atttgtattt tataataaaa atgttttaaa attaaaa
//
