LOCUS       NM_001077446            2160 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens tRNA splicing endonuclease subunit 34 (TSEN34),
            transcript variant 2, mRNA.
ACCESSION   NM_001077446
VERSION     NM_001077446.4
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 2160)
  AUTHORS   Bierhals,T., Korenke,G.C., Uyanik,G. and Kutsche,K.
  TITLE     Pontocerebellar hypoplasia type 2 and TSEN2: review of the
            literature and two novel mutations
  JOURNAL   Eur J Med Genet 56 (6), 325-330 (2013)
   PUBMED   23562994
  REMARK    Review article
REFERENCE   2  (bases 1 to 2160)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 2160)
  AUTHORS   Budde,B.S., Namavar,Y., Barth,P.G., Poll-The,B.T., Nurnberg,G.,
            Becker,C., van Ruissen,F., Weterman,M.A., Fluiter,K., te Beek,E.T.,
            Aronica,E., van der Knaap,M.S., Hohne,W., Toliat,M.R., Crow,Y.J.,
            Steinling,M., Voit,T., Roelenso,F., Brussel,W., Brockmann,K.,
            Kyllerman,M., Boltshauser,E., Hammersen,G., Willemsen,M.,
            Basel-Vanagaite,L., Krageloh-Mann,I., de Vries,L.S., Sztriha,L.,
            Muntoni,F., Ferrie,C.D., Battini,R., Hennekam,R.C., Grillo,E.,
            Beemer,F.A., Stoets,L.M., Wollnik,B., Nurnberg,P. and Baas,F.
  TITLE     tRNA splicing endonuclease mutations cause pontocerebellar
            hypoplasia
  JOURNAL   Nat Genet 40 (9), 1113-1118 (2008)
   PUBMED   18711368
REFERENCE   4  (bases 1 to 2160)
  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   5  (bases 1 to 2160)
  AUTHORS   Wende,H., Volz,A. and Ziegler,A.
  TITLE     Extensive gene duplications and a large inversion characterize the
            human leukocyte receptor cluster
  JOURNAL   Immunogenetics 51 (8-9), 703-713 (2000)
   PUBMED   10941842
  REMARK    Erratum:[Immunogenetics 2001;52(3-4):308]
REFERENCE   6  (bases 1 to 2160)
  AUTHORS   van Dijk,T. and Baas,F.
  TITLE     TSEN54 Pontocerebellar Hypoplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301773
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN256589.1, AK226013.1,
            AK054944.1 and AC245052.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001077446.3.
            
            Summary: This gene encodes a catalytic subunit of the tRNA splicing
            endonuclease, which catalyzes the removal of introns from precursor
            tRNAs. The endonuclease complex is also associated with a pre-mRNA
            3-prime end processing factor. A mutation in this gene results in
            the neurological disorder pontocerebellar hypoplasia type 2.
            Multiple alternatively spliced variants, encoding the same protein,
            have been identified.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, and 3 encode the same isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.166534.1, BC020805.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396388.3/ ENSP00000379671.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                CN256589.1         103-155
            54-729              AK226013.1         106-781
            730-1294            AK054944.1         1810-2374
            1295-2160           AC245052.3         122207-123072
FEATURES             Location/Qualifiers
     source          1..2160
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2160
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="tRNA splicing endonuclease subunit 34"
                     /db_xref="GeneID:79042"
                     /db_xref="HGNC:HGNC:15506"
                     /db_xref="MIM:608754"
     exon            1..300
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..990
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /EC_number="4.6.1.16"
                     /note="isoform 1 is encoded by transcript variant 2;
                     leukocyte receptor cluster (LRC) member 5; tRNA-splicing
                     endonuclease subunit Sen34; CTD-3093M3.1; tRNA-intron
                     endonuclease Sen34; leukocyte receptor cluster member 5;
                     TSEN34 tRNA splicing endonuclease subunit"
                     /codon_start=1
                     /product="tRNA-splicing endonuclease subunit Sen34 isoform
                     1"
                     /protein_id="NP_001070914.1"
                     /db_xref="CCDS:CCDS42609.1"
                     /db_xref="GeneID:79042"
                     /db_xref="HGNC:HGNC:15506"
                     /db_xref="MIM:608754"
                     /translation="MLVVEVANGRSLVWGAEAVQALRERLGVGGRTVGALPRGPRQNS
                     RLGLPLLLMPEEARLLAEIGAVTLVSAPRPDSRHHSLALTSFKRQQEESFQEQSALAA
                     EARETRRQELLEKITEGQAAKKQKLEQASGASSSQEAGSSQAAKEDETSDGQASGEQE
                     EAGPSSSQAGPSNGVAPLPRSALLVQLATARPRPVKARPLDWRVQSKDWPHAGRPAHE
                     LRYSIYRDLWERGFFLSAAGKFGGDFLVYPGDPLRFHAHYIAQCWAPEDTIPLQDLVA
                     AGRLGTSVRKTLLLCSPQPDGKVVYTSLQWASLQ"
     exon            301..544
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /inference="alignment:Splign:2.1.0"
     exon            545..802
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /inference="alignment:Splign:2.1.0"
     exon            803..2160
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1272..1277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="hexamer: AATAAA"
     polyA_site      1294
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="major polyA site"
     regulatory      2140..2145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="hexamer: ATTACA"
     polyA_site      2160
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
ORIGIN      
        1 ggtccgcggc gcgcagctgt ttcggtaact gctttgcctc ccggctcccg caggaggatg
       61 ctggtggtgg aggtggcgaa cggccgctcc ctggtgtggg gagccgaggc ggtgcaggcc
      121 ctccgggagc gcctgggtgt ggggggccgc acggtaggcg ccctgccccg cgggccccgc
      181 cagaactcgc gcctgggcct cccgctgctg ctgatgcccg aagaggcgcg gctcttggcc
      241 gagatcggcg ccgtgactct ggtcagcgcc ccgcgtccag actctcggca ccacagcctg
      301 gccctgacat ccttcaagcg ccagcaagag gagagcttcc aggagcagag cgccttggca
      361 gctgaggccc gggagacccg tcgtcaggag ctcctggaga agattacgga gggccaggct
      421 gctaagaagc agaaactaga acaggcttca ggggccagct caagccagga ggccggctcg
      481 agccaggctg ccaaagagga tgagaccagt gatggccagg cttcgggaga gcaggaggaa
      541 gctggcccct cgtcttccca agcaggaccc tcaaatgggg tagccccctt gcccagatct
      601 gctctccttg tccagctggc cactgccagg cctcgaccgg tcaaggccag gcccctggac
      661 tggcgtgtcc agtctaaaga ctggccccac gccggccgcc ctgcccacga gctgcgctac
      721 agtatctaca gagacctgtg ggagcgaggc ttcttcctca gtgcggctgg caagttcgga
      781 ggtgacttcc tggtctatcc tggtgacccc ctccgcttcc acgcccatta tatcgctcag
      841 tgctgggccc ctgaggacac catcccactc caagacctgg ttgctgctgg gcgccttgga
      901 accagcgtca gaaagaccct gctcctctgt tctccgcagc ctgatggtaa ggtggtctac
      961 acctccctgc aatgggccag cctgcagtga actccagaga cctaggggat gtggctgtgt
     1021 cggcagcaag agcctttctg gatgttcccc agctcttctc tgggagtcta gaacatcctc
     1081 ctacctttct ccgcggttag tttttgattc caggttttcg aacactacat cttttttatg
     1141 ttcttccttg tttcaaagca cttattggct gtgtttttgt agttacctat tttcacactg
     1201 tgagcttccc gagaatgggg cctgggtttg attcatctgt tttctacagg gtttaagtct
     1261 caggaggtct caataaactt ggtatataaa tgttcatgat ttgaatgttt gcgacagtcc
     1321 tggaacccgt ggatggtctc atctgcatgt acaggtgaga aaaaggcctg gaggaggggg
     1381 actgacttgc ccaaagtcac acacttagta aatagcaggc ctggcctttc aaaattggtt
     1441 tttctgactc ctaaatctgc actctttcta cctcactaaa cttccttttg aaaagatttc
     1501 tatgaaattt cccagatgca tacaaacgtt ataaataaaa atataggctg ggcacgatga
     1561 cccacacctg taatcccaca gaacttttgg aggccaaggc agggggatcg cttgagccca
     1621 ggagtttgag accagctctg gcaacattgt aatacccagt ctctacaaaa aataatttaa
     1681 aaaaaaatta gccagggatc ccttgagcct gggaagttga ggctgctgtg agctgtgatt
     1741 gcaccactgc cctccagcct gggagacaga gcaagaacct gtctcaaaaa atatatatat
     1801 gtgtgtgtgt atatatgtaa atatacacac atgtatgtat atatatgtgt gtgtatatat
     1861 atatatatta tgaaaggaaa tgagtattgt aattttagga gttcagagcc tggggagaaa
     1921 ggaaggactc tggaaggcgt tctgcttttt catggcctgg gtagtggtga atttttttga
     1981 tactgtatat ttatatttta gactcttttt tggatgtgtt atattctgca atttttataa
     2041 aagctaaaac acatgtattt gtaaaaaatt tgcacttatg aaatcattta cccatgtttt
     2101 tgcttaagaa agtactagaa cactaccact attccaataa ttacaccttt atcttatcaa
//
