LOCUS       NM_001012759            1721 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens cytosolic thiouridylase subunit 2 (CTU2), transcript
            variant 1, mRNA.
ACCESSION   NM_001012759 XM_001129676
VERSION     NM_001012759.3
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 1721)
  AUTHORS   Xue,C., Wei,Z., Zhang,Y., Liu,Y., Zhang,S., Li,Q., Feng,K.,
            Yang,X., Liu,G., Chen,Y., Li,X., Yao,Z., Han,J. and Duan,Y.
  TITLE     Activation of CTU2 expression by LXR promotes the development of
            hepatocellular carcinoma
  JOURNAL   Cell Biol Toxicol 40 (1), 23 (2024)
   PUBMED   38630355
  REMARK    GeneRIF: Activation of CTU2 expression by LXR promotes the
            development of hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1721)
  AUTHORS   Shaheen,R., Mark,P., Prevost,C.T., AlKindi,A., Alhag,A.,
            Estwani,F., Al-Sheddi,T., Alobeid,E., Alenazi,M.M., Ewida,N.,
            Ibrahim,N., Hashem,M., Abdulwahab,F., Bryant,E.M., Spinelli,E.,
            Millichap,J., Barnett,S.S., Kearney,H.M., Accogli,A., Scala,M.,
            Capra,V., Nigro,V., Fu,D. and Alkuraya,F.S.
  TITLE     Biallelic variants in CTU2 cause DREAM-PL syndrome and impair
            thiolation of tRNA wobble U34
  JOURNAL   Hum Mutat 40 (11), 2108-2120 (2019)
   PUBMED   31301155
  REMARK    GeneRIF: Our data establish a recognizable CTU2-linked autosomal
            recessive syndrome in humans characterized by defective thiolation
            of the wobble uridine. The potential deleterious consequences for
            the translational efficiency and fidelity during development as a
            mechanism for pathogenicity represent an attractive target of
            future investigations.
            Erratum:[Hum Mutat. 2021 Feb;42(2):219. doi: 10.1002/humu.24157..
            PMID: 33559988]
REFERENCE   3  (bases 1 to 1721)
  AUTHORS   Chaste,P., Klei,L., Sanders,S.J., Hus,V., Murtha,M.T., Lowe,J.K.,
            Willsey,A.J., Moreno-De-Luca,D., Yu,T.W., Fombonne,E.,
            Geschwind,D., Grice,D.E., Ledbetter,D.H., Mane,S.M., Martin,D.M.,
            Morrow,E.M., Walsh,C.A., Sutcliffe,J.S., Lese Martin,C.,
            Beaudet,A.L., Lord,C., State,M.W., Cook,E.H. Jr. and Devlin,B.
  TITLE     A genome-wide association study of autism using the Simons Simplex
            Collection: Does reducing phenotypic heterogeneity in autism
            increase genetic homogeneity?
  JOURNAL   Biol Psychiatry 77 (9), 775-784 (2015)
   PUBMED   25534755
REFERENCE   4  (bases 1 to 1721)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   5  (bases 1 to 1721)
  AUTHORS   Schlieker,C.D., Van der Veen,A.G., Damon,J.R., Spooner,E. and
            Ploegh,H.L.
  TITLE     A functional proteomics approach links the ubiquitin-related
            modifier Urm1 to a tRNA modification pathway
  JOURNAL   Proc Natl Acad Sci U S A 105 (47), 18255-18260 (2008)
   PUBMED   19017811
  REMARK    GeneRIF: Identifies the product of this gene as being involved in
            tRNA modification.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC125269.1, AA448486.1,
            BC080540.1 and AC138028.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001012759.2.
            
            Summary: This gene encodes a protein which is involved in the
            post-transcriptional modification of transfer RNAs (tRNAs). The
            encoded protein plays a role in thiolation of uridine residue
            present at the wobble position in a subset of tRNAs, resulting in
            enhanced codon reading accuracy. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 3. It
            encodes isoform 1, which lacks an internal in-frame segment and is
            shorter, compared to isoform 3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1162382.1,
                                           SRR3476690.364587.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000453996.7/ ENSP00000388320.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1359              BC125269.1         21-1379
            1360-1380           AA448486.1         326-346             c
            1381-1711           BC080540.1         1329-1659
            1712-1721           AC138028.1         63283-63292         c
FEATURES             Location/Qualifiers
     source          1..1721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..1721
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="cytosolic thiouridylase subunit 2"
                     /db_xref="GeneID:348180"
                     /db_xref="HGNC:HGNC:28005"
                     /db_xref="MIM:617057"
     exon            1..96
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1576
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytoplasmic tRNA 2-thiolation protein 2; cytosolic
                     thiouridylase subunit 2 homolog"
                     /codon_start=1
                     /product="cytoplasmic tRNA 2-thiolation protein 2 isoform
                     1"
                     /protein_id="NP_001012777.1"
                     /db_xref="CCDS:CCDS45545.1"
                     /db_xref="GeneID:348180"
                     /db_xref="HGNC:HGNC:28005"
                     /db_xref="MIM:617057"
                     /translation="MCQVGEDYGEPAPEEPPPAPRPSREQKCVKCKEAQPVVVIRAGD
                     AFCRDCFKAFYVHKFRAMLGKNRLIFPGEKVLLAWSGGPSSSSMVWQVLEGLSQDSAK
                     RLRFVAGVIFVDEGAACGQSLEERSKTLAEVKPILQATGFPWHVVALEEVFSLPPSVL
                     WCSAQELVGSEGAYKAAVDSFLQQQHVLGAGGGPGPTQGEEQPPQPPLDPQNLARPPA
                     PAQTEALSQLFCSVRTLTAKEELLQTLRTHLILHMARAHGYSKVMTGDSCTRLAIKLM
                     TNLALGRGAFLAWDTGFSDERHGDVVVVRPMRDHTLKEVAFYNRLFSVPSVFTPAVDT
                     KAPEKASIHRLMEAFILRLQTQFPSTVSTVYRTSEKLVKGPRDGPAAGDSGPRCLLCM
                     CALDVDAADSATAFGAQTSSRLSQMQSPIPLTETRTPPGPCCSPGVGWAQRCGQGACR
                     REDPQACIEEQLCYSCRVNMKDLPSLDPLPPYILAEAQLRTQRAWGLQEIRDCLIEDS
                     DDEAGQS"
     exon            97..171
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            172..250
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            251..310
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            311..371
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            372..481
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            482..765
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            766..901
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1033
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1125
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1229
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1380
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..1447
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            1448..1506
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1721
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1689
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="major polyA site"
     regulatory      1699..1704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="hexamer: ATTAAA"
     polyA_site      1721
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
ORIGIN      
        1 acagtctgcg acgggacccg gcgtgcccat gtgtcaggtg ggcgaggact acggggagcc
       61 ggcgcctgag gagccgcccc cggcgccgcg gcccagccgt gagcagaagt gtgtgaagtg
      121 caaggaagcg cagcccgttg tggtgatacg agccggagat gccttctgca gggactgttt
      181 caaggccttc tacgtccaca agttcagagc catgctgggc aagaaccggc tcatctttcc
      241 aggcgagaag gtgctcttgg cgtggtctgg ggggccttcg tccagctcca tggtctggca
      301 ggttcttgag ggcctgagcc aagattctgc caaaagactg cgctttgtgg caggagtcat
      361 ctttgttgac gagggagcag cctgtggcca gagcctagag gagagatcaa agaccctggc
      421 cgaagtgaag cccattctgc aagcaactgg gttcccatgg catgtggtgg ccttagagga
      481 ggtgttcagc ctgccaccgt cggtgctttg gtgctctgcc caggagctgg tgggatccga
      541 gggggcctac aaggcggccg tggacagctt cctccagcag cagcatgtgc tgggggccgg
      601 gggtggtcct ggcccgactc aaggggagga acagccaccc cagcccccgc tggaccccca
      661 gaacctggca agaccgcctg cccctgccca gactgaggct ctttcccaac tgttctgctc
      721 agtgaggaca ctgactgcca aggaggagct tctgcagacc ctgcggaccc acctgatcct
      781 ccacatggcc cgagcccacg gctactccaa ggtcatgact ggggacagct gcacacgctt
      841 ggctatcaag ctcatgacca acctggcgct gggtcgaggg gccttcctgg cctgggatac
      901 gggcttctcg gatgagcggc acggggacgt ggtggtggtg cggcccatgc gggaccacac
      961 cctgaaggag gtcgctttct acaaccgcct gttctccgtt ccttctgtct tcacaccagc
     1021 cgtcgacacc aaggcccctg aaaaggccag catccaccgg ctgatggagg ccttcatcct
     1081 caggctgcag acccagttcc cctccactgt cagcactgtg tacaggacaa gtgagaagct
     1141 ggtgaagggc ccccgggatg gccctgctgc tggcgactcc ggcccccgct gcctcctctg
     1201 catgtgtgcc ctggacgtcg acgccgctga cagtgccacg gcttttgggg ctcagacctc
     1261 ctcgcgtctc tcccagatgc agtcacccat ccccctgact gagacccgga cacccccggg
     1321 gccctgctgt tctccagggg tgggctgggc ccagcgctgt ggccaggggg cctgcaggag
     1381 ggaggacccc caagcctgca ttgaggagca gctgtgctac agctgccgcg tgaacatgaa
     1441 ggacttgccc tcactggacc ccctgccgcc gtacatcctg gctgaggccc agctccgcac
     1501 acagagggcc tggggcttgc aggagatccg ggactgtctg attgaggaca gtgacgacga
     1561 ggcgggccag agctgagcgt gaggacgtgc ttgccgggac agcaggcagt ggccacctgg
     1621 tacaccacac tggagccgga aggcaaggac gggggactgg cctctgattg tccatttgta
     1681 taaataaaac attttttaat taaaaaaaaa actctacagt a
//
