LOCUS       NM_001168348            2292 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens NOP2/Sun RNA methyltransferase 5 (NSUN5), transcript
            variant 4, mRNA.
ACCESSION   NM_001168348
VERSION     NM_001168348.3
KEYWORDS    RefSeq.
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 2292)
  AUTHORS   Liu,S., Liu,Y., Zhou,Y., Xia,G., Liu,H., Zeng,Y., Pei,Z., Cao,J.,
            Jing,G., Zou,H. and Liao,C.
  TITLE     NSUN5 promotes tumorigenic phenotypes through the WNT signaling
            pathway and immunosuppression of CD8+ T cells in gastric cancer
  JOURNAL   Cell Signal 124, 111475 (2024)
   PUBMED   39428025
  REMARK    GeneRIF: NSUN5 promotes tumorigenic phenotypes through the WNT
            signaling pathway and immunosuppression of CD8+ T cells in gastric
            cancer.
REFERENCE   2  (bases 1 to 2292)
  AUTHORS   Zhang,T., Li,H., Jiang,E., Liu,L. and Zhang,C.
  TITLE     The downregulation of NSUN5 may contribute to preeclampsiadagger
  JOURNAL   Biol Reprod 111 (4), 856-865 (2024)
   PUBMED   38924712
  REMARK    GeneRIF: The downregulation of NSUN5 may contribute to
            preeclampsiadagger.
REFERENCE   3  (bases 1 to 2292)
  AUTHORS   Gu,X., Li,P., Gao,X., Ru,Y., Xue,C., Zhang,S., Liu,Y. and Hu,X.
  TITLE     RNA 5-methylcytosine writer NSUN5 promotes hepatocellular carcinoma
            cell proliferation via a ZBED3-dependent mechanism
  JOURNAL   Oncogene 43 (9), 624-635 (2024)
   PUBMED   38182896
  REMARK    GeneRIF: RNA 5-methylcytosine writer NSUN5 promotes hepatocellular
            carcinoma cell proliferation via a ZBED3-dependent mechanism.
REFERENCE   4  (bases 1 to 2292)
  AUTHORS   Zhang,Y., Chen,X.N., Zhang,H., Wen,J.K., Gao,H.T., Shi,B.,
            Wang,D.D., Han,Z.W., Gu,J.F., Zhao,C.M., Xue,W.Y., Zhang,Y.P.,
            Qu,C.B. and Yang,Z.
  TITLE     CDK13 promotes lipid deposition and prostate cancer progression by
            stimulating NSUN5-mediated m5C modification of ACC1 mRNA
  JOURNAL   Cell Death Differ 30 (12), 2462-2476 (2023)
   PUBMED   37845385
  REMARK    GeneRIF: CDK13 promotes lipid deposition and prostate cancer
            progression by stimulating NSUN5-mediated m5C modification of ACC1
            mRNA.
REFERENCE   5  (bases 1 to 2292)
  AUTHORS   Su,Y., Liu,J., Zheng,Z., Shi,L., Huang,W., Huang,X., Ye,C., Qi,J.,
            Wang,W. and Zhuang,H.
  TITLE     NSUN5-FTH1 Axis Inhibits Ferroptosis to Promote the Growth of
            Gastric Cancer Cells
  JOURNAL   Cell Biochem Biophys 81 (3), 553-560 (2023)
   PUBMED   37528314
  REMARK    GeneRIF: NSUN5-FTH1 Axis Inhibits Ferroptosis to Promote the Growth
            of Gastric Cancer Cells.
REFERENCE   6  (bases 1 to 2292)
  AUTHORS   Schosserer,M., Minois,N., Angerer,T.B., Amring,M., Dellago,H.,
            Harreither,E., Calle-Perez,A., Pircher,A., Gerstl,M.P.,
            Pfeifenberger,S., Brandl,C., Sonntagbauer,M., Kriegner,A.,
            Linder,A., Weinhausel,A., Mohr,T., Steiger,M., Mattanovich,D.,
            Rinnerthaler,M., Karl,T., Sharma,S., Entian,K.D., Kos,M.,
            Breitenbach,M., Wilson,I.B., Polacek,N., Grillari-Voglauer,R.,
            Breitenbach-Koller,L. and Grillari,J.
  TITLE     Methylation of ribosomal RNA by NSUN5 is a conserved mechanism
            modulating organismal lifespan
  JOURNAL   Nat Commun 6, 6158 (2015)
   PUBMED   25635753
  REMARK    Erratum:[Nat Commun. 2016 May 11;7:11530. doi:
            10.1038/ncomms11530.. PMID: 27167997]
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2292)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   8  (bases 1 to 2292)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   9  (bases 1 to 2292)
  AUTHORS   Merla,G., Ucla,C., Guipponi,M. and Reymond,A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum Genet 110 (5), 429-438 (2002)
   PUBMED   12073013
REFERENCE   10 (bases 1 to 2292)
  AUTHORS   Doll,A. and Grzeschik,K.H.
  TITLE     Characterization of two novel genes, WBSCR20 and WBSCR22, deleted
            in Williams-Beuren syndrome
  JOURNAL   Cytogenet Cell Genet 95 (1-2), 20-27 (2001)
   PUBMED   11978965
  REMARK    GeneRIF: Characterization of two novel genes, WBSCR20 and WBSCR22,
            deleted in Williams-Beuren syndrome
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB154882.1, AK126375.1,
            AK001129.1, EC442348.1, BM144254.1 and CX866878.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001168348.2.
            
            Summary: This gene encodes a member of an evolutionarily conserved
            family of proteins that may function as methyltransferases. This
            gene is located in a larger region of chromosome 7 that is deleted
            in Williams-Beuren syndrome, a multisystem developmental disorder.
            There are two pseudogenes for this gene located in the same region
            of chromosome 7. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2013].
            
            Transcript Variant: This variant (4) uses an alternate in-frame
            splice site in the 5' coding region and includes an alternate
            segment in the 3' coding region, which results in a frameshift,
            compared to variant 1. The encoded isoform (4) is shorter and has a
            distinct C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK126375.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                CB154882.1         42-63
            23-1195             AK126375.1         1-1173
            1196-1196           AK001129.1         1290-1290
            1197-1895           AK126375.1         1175-1873
            1896-1896           EC442348.1         31-31               c
            1897-2163           AK126375.1         1875-2141
            2164-2289           BM144254.1         19-144              c
            2290-2292           CX866878.1         29-31               c
FEATURES             Location/Qualifiers
     source          1..2292
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..2292
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /note="NOP2/Sun RNA methyltransferase 5"
                     /db_xref="GeneID:55695"
                     /db_xref="HGNC:HGNC:16385"
                     /db_xref="MIM:615732"
     exon            1..129
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1212
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /note="isoform 4 is encoded by transcript variant 4;
                     Williams Beuren syndrome chromosome region 20A;
                     Williams-Beuren syndrome critical region protein 20 copy
                     A; NOP2/Sun domain family, member 5A; putative
                     methyltransferase NSUN5; NOL1-related protein;
                     NOL1/NOP2/Sun domain family member 5; Williams-Beuren
                     syndrome chromosomal region 20A protein; probable 28S rRNA
                     (cytosine-C(5))-methyltransferase; NOP2/Sun RNA
                     methyltransferase family member 5"
                     /codon_start=1
                     /product="28S rRNA (cytosine-C(5))-methyltransferase
                     isoform 4"
                     /protein_id="NP_001161820.1"
                     /db_xref="CCDS:CCDS55118.1"
                     /db_xref="GeneID:55695"
                     /db_xref="HGNC:HGNC:16385"
                     /db_xref="MIM:615732"
                     /translation="MGLYAAAAGVLAGVESRQGSIKGLVYSSNFQNVKQLYALVCETQ
                     RYSAVLDAVIASAGLLRAEKKLRPHLAKVHRGVSRNEDLLEVGSRPGPASQLPRFVRV
                     NTLKTCSDDVVDYFKRQGFSYQGRASSLDDLRALKGKHFLLDPLMPELLVFPAQTDLH
                     EHPLYRAGHLILQDRASCLPAMLLDPPPGSHVIDACAAPGNKTSHLAALLKNQGKIFA
                     FDLDAKRLASMATLLARAGVSCCELAEEDFLAVSPSDPRYHEVHYILLDPSCSGSGMP
                     SRQLEEPGAGTPSPVRLHALAGFQQRALCHALTFPSLQRLVYSTCSLCQEENEDVVRD
                     ALQQNPGAFRLAPALPAWPHRGLSTFPGAEHCLRASPETTLSSGFFVAVIERVEVPR"
     exon            130..252
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     exon            253..313
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     exon            314..422
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     exon            423..561
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     exon            562..677
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     exon            678..856
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1067
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..2292
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1557..1562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /note="hexamer: AATAAA"
     polyA_site      1579
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /note="major polyA site"
     regulatory      1639..1644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /note="hexamer: ACTAAA"
     polyA_site      1662
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
ORIGIN      
        1 gcgttttgcc acagagccgt aaaggcgcgc gggaacatgg ggctgtatgc tgcagctgca
       61 ggcgtgttgg ccggcgtgga gagccgccag ggctctatca aggggttggt gtactccagc
      121 aacttccaga acgtgaagca gctgtacgcg ctggtgtgcg aaacgcagcg ctactccgcc
      181 gtgctggatg ctgtgatcgc cagcgccggc ctcctccgtg cggagaagaa gctgcggccg
      241 cacctggcca aggttcatcg gggtgtgagc cggaatgagg acctgttgga agtgggatcc
      301 aggcctggtc cagcctccca gctgcctcga tttgtgcgtg tgaacactct caagacctgc
      361 tccgatgatg tagttgatta tttcaagaga caaggtttct cctatcaggg tcgggcttcc
      421 agcctcgatg acttacgagc cctcaagggg aagcattttc tcctggaccc cttgatgccg
      481 gagctgctgg tgtttcccgc ccagacagat ctgcatgaac acccactgta ccgggccgga
      541 cacctcattc tgcaggacag ggccagctgt ctcccagcca tgctgctgga ccccccgcca
      601 ggctcccatg tcatcgatgc ctgtgccgcc ccaggcaata agaccagtca cttggctgct
      661 cttctgaaga accaagggaa gatctttgcc tttgacctgg atgccaagcg gctggcatcc
      721 atggccacgc tgctggcccg ggctggcgtc tcttgctgtg aactggctga ggaggacttc
      781 ctggcggtct ccccctcgga tccacgctac catgaggtcc actacatcct gctggatcct
      841 tcctgcagtg gctcgggtat gccgagcaga cagctggagg agcccggggc aggcacacct
      901 agcccggtgc gtctgcatgc cctggcaggg ttccagcagc gagccctgtg ccacgcactc
      961 actttccctt ccctgcagcg gctcgtctac tccacgtgct ccctctgcca ggaggagaat
     1021 gaagacgtgg tgcgagatgc gctgcagcag aacccgggcg ccttcaggct agctcccgcc
     1081 ctgcctgcct ggccccaccg aggcctgagc acgttcccgg gtgccgagca ctgcctccgg
     1141 gcctcccctg agaccacact cagcagtggc ttcttcgttg ctgtaattga acgggtcgag
     1201 gtgccaaggt gagtgagtgg gggcgtgctt gggaggcgca ggatggcacc ggcacatcta
     1261 acatctacac ttctctagct cagcctcaca ggccaaagca tcagcaccag aacgcacacc
     1321 cagcccagcc ccaaagagaa agaagagaca gcaaagagcc gcagccggtg cttgcacacc
     1381 gccttgcaca tagcagaggc tccgggctga ctccttcctg gtgggaaagg aagatgcctg
     1441 tcctctccgt ggaggaccct gggccctcac cgcaggaagc agtttgggtt ttgaaaggtt
     1501 attgggtccc ttccttgggc tgtgttcttg ctggtgagca aagtgttgcc tgcaaaaata
     1561 aaatgcagaa cgtactctac gatagatcac agttttttat tcttaatgtc acaagcagga
     1621 gaaaaatctc acattcatac taaaagttcc aactagactc aacaggaatg aagtctctat
     1681 ttgtaatgga aagtcccagc ctcccgctgc cgtccagtgc gtgtactgta cacatccaca
     1741 ctcacactca ctcagggttc ccggaccggc tgtcctgcct gcggaactga ggtaaactag
     1801 ctcaggtgct gacactagga gggtctacct tacataaggt acaggtagaa gcttgattgc
     1861 taggcccagg cccacccaga ccctccaatc ctaacaggta tttaggcttg aggttcactc
     1921 cctcctcagc tgcacacgca gccaggtatt aacgaggatc agagctgttc tgaggggtgg
     1981 gaaggagcag ccccaccacc actcactcac cctcagtcac atcggggagg gggcaccagt
     2041 tacatttaca tcacattatt tataaaataa gaattacatt tcatataaca tggccagaag
     2101 gagctctagt cccccaggaa agctgccggg gacagcattt gagcctcttc tttgcacagg
     2161 cataacttaa ctatacagct aattcctagt taatagcatt tatacttaac cacctcaatg
     2221 aaccaagctt gaaggaattt aaaaggcaat ttagcttaaa tacaaaaata aatttttgtt
     2281 aaaaaacgtt ta
//
