LOCUS       NP_683759                466 aa            linear   PRI 27-APR-2025
DEFINITION  28S rRNA (cytosine-C(5))-methyltransferase isoform 1 [Homo
            sapiens].
ACCESSION   NP_683759
VERSION     NP_683759.1
DBSOURCE    REFSEQ: accession NM_148956.4
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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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 (residues 1 to 466)
  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, BC008084.2,
            AK126375.1, EC442348.1, BM144254.1 and CX866878.1.
            
            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 (1) encodes 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 :: AK098619.1, SRR1660807.214717.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000438747.7/ ENSP00000388464.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..466
                     /product="28S rRNA (cytosine-C(5))-methyltransferase
                     isoform 1"
                     /note="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"
                     /calculated_mol_wt=50280
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglycine. /evidence=ECO:0000269|Ref.7;
                     propagated from UniProtKB/Swiss-Prot (Q96P11.2)"
     Region          <119..426
                     /region_name="RsmB"
                     /note="16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF
                     family [Translation, ribosomal structure and biogenesis];
                     COG0144"
                     /db_xref="CDD:439914"
     Site            167
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96P11.2)"
     CDS             1..466
                     /gene="NSUN5"
                     /gene_synonym="NOL1; NOL1R; NSUN5A; p120; p120(NOL1);
                     WBSCR20; WBSCR20A"
                     /coded_by="NM_148956.4:37..1437"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5546.1"
                     /db_xref="GeneID:55695"
                     /db_xref="HGNC:HGNC:16385"
                     /db_xref="MIM:615732"
ORIGIN      
        1 mglyaaaagv lagvesrqgs ikglvyssnf qnvkqlyalv cetqrysavl daviasagll
       61 raekklrphl akvlvyelll gkgfrggggr wkallgrhqa rlkaelarlk vhrgvsrned
      121 llevgsrpgp asqlprfvrv ntlktcsddv vdyfkrqgfs yqgrassldd lralkgkhfl
      181 ldplmpellv fpaqtdlheh plyraghlil qdrasclpam lldpppgshv idacaapgnk
      241 tshlaallkn qgkifafdld akrlasmatl laragvscce laeedflavs psdpryhevh
      301 yilldpscsg sgmpsrqlee pgagtpspvr lhalagfqqr alchaltfps lqrlvystcs
      361 lcqeenedvv rdalqqnpga frlapalpaw phrglstfpg aehclraspe ttlssgffva
      421 viervevpss asqakasape rtpspapkrk krqqraaaga ctppct
//
