LOCUS       NP_663389                465 aa            linear   ROD 17-JUN-2024
DEFINITION  28S rRNA (cytosine-C(5))-methyltransferase isoform 1 [Mus
            musculus].
ACCESSION   NP_663389
VERSION     NP_663389.2
DBSOURCE    REFSEQ: accession NM_145414.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 465)
  AUTHORS   Zhang,H., Li,X., Bai,J. and Zhang,C.
  TITLE     Mice with NOP2/sun RNA methyltransferase 5 deficiency die before
            reaching puberty due to fatal kidney damage
  JOURNAL   Ren Fail 46 (1), 2349139 (2024)
   PUBMED   38712768
  REMARK    GeneRIF: Mice with NOP2/sun RNA methyltransferase 5 deficiency die
            before reaching puberty due to fatal kidney damage.
REFERENCE   2  (residues 1 to 465)
  AUTHORS   Liu,D., Yamamoto,T., Wang,H., Minami,N., Honda,S. and Ikeda,S.
  TITLE     NSUN5 is essential for proper cell proliferation and
            differentiation of mouse preimplantation embryos
  JOURNAL   Reproduction 168 (1), e240079 (2024)
   PUBMED   38670153
  REMARK    GeneRIF: NSUN5 is essential for proper cell proliferation and
            differentiation of mouse preimplantation embryos.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 465)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   4  (residues 1 to 465)
  AUTHORS   Ding,C., Lu,J., Li,J., Hu,X., Liu,Z., Su,H., Li,H. and Huang,B.
  TITLE     RNA-methyltransferase Nsun5 controls the maternal-to-zygotic
            transition by regulating maternal mRNA stability
  JOURNAL   Clin Transl Med 12 (12), e1137 (2022)
   PUBMED   36495115
  REMARK    GeneRIF: RNA-methyltransferase Nsun5 controls the
            maternal-to-zygotic transition by regulating maternal mRNA
            stability.
REFERENCE   5  (residues 1 to 465)
  AUTHORS   Wang,Y., Jiang,T., Xu,J., Gu,Y., Zhou,Y., Lin,Y., Wu,Y., Li,W.,
            Wang,C., Shen,B., Mo,X., Wang,X., Zhou,B., Ding,C. and Hu,Z.
  TITLE     Mutations in RNA Methyltransferase Gene NSUN5 Confer High Risk of
            Outflow Tract Malformation
  JOURNAL   Front Cell Dev Biol 9, 623394 (2021)
   PUBMED   33968922
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 465)
  AUTHORS   Chi,L. and Delgado-Olguin,P.
  TITLE     Expression of NOL1/NOP2/sun domain (Nsun) RNA methyltransferase
            family genes in early mouse embryogenesis
  JOURNAL   Gene Expr Patterns 13 (8), 319-327 (2013)
   PUBMED   23816522
REFERENCE   7  (residues 1 to 465)
  AUTHORS   Corbo,J.C. and Cepko,C.L.
  TITLE     A hybrid photoreceptor expressing both rod and cone genes in a
            mouse model of enhanced S-cone syndrome
  JOURNAL   PLoS Genet 1 (2), e11 (2005)
   PUBMED   16110338
  REMARK    Erratum:[PLoS Genet. 2008 Jan;4(1):e18]
REFERENCE   8  (residues 1 to 465)
  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   9  (residues 1 to 465)
  AUTHORS   DeSilva,U., Elnitski,L., Idol,J.R., Doyle,J.L., Gan,W.,
            Thomas,J.W., Schwartz,S., Dietrich,N.L., Beckstrom-Sternberg,S.M.,
            McDowell,J.C., Blakesley,R.W., Bouffard,G.G., Thomas,P.J.,
            Touchman,J.W., Miller,W. and Green,E.D.
  TITLE     Generation and comparative analysis of approximately 3.3 Mb of
            mouse genomic sequence orthologous to the region of human
            chromosome 7q11.23 implicated in Williams syndrome
  JOURNAL   Genome Res 12 (1), 3-15 (2002)
   PUBMED   11779826
REFERENCE   10 (residues 1 to 465)
  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: mouse homologues of two novel genes, WBSCR20 and WBSCR22,
            deleted in Williams-Beuren syndrome (WBSCR20; WBSCR22)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK079400.1 and AK149521.1.
            
            On Jul 28, 2007 this sequence version replaced NP_663389.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer 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 :: AK149521.1, AK156651.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 75.16 cM"
     Protein         1..465
                     /product="28S rRNA (cytosine-C(5))-methyltransferase
                     isoform 1"
                     /note="putative methyltransferase NSUN5; Williams-Beuren
                     syndrome critical region protein 20; williams-Beuren
                     syndrome chromosomal region 20A protein homolog; Williams
                     Beuren syndrome chromosome region 20A homolog; probable
                     28S rRNA (cytosine-C(5))-methyltransferase"
                     /calculated_mol_wt=50899
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylglycine.
                     /evidence=ECO:0000250|UniProtKB:Q96P11; propagated from
                     UniProtKB/Swiss-Prot (Q8K4F6.2)"
     Region          <138..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:0000250|UniProtKB:Q96P11; propagated from
                     UniProtKB/Swiss-Prot (Q8K4F6.2)"
     Region          430..465
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8K4F6.2)"
     CDS             1..465
                     /gene="Nsun5"
                     /gene_synonym="9830109N13Rik; Nol1r; Wbscr20; Wbscr20a"
                     /coded_by="NM_145414.2:32..1429"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS19740.1"
                     /db_xref="GeneID:100609"
                     /db_xref="MGI:MGI:2140844"
ORIGIN      
        1 mglyaaaaav lagvesrqgs lkglvyssnf qnlkqlyalv cetqrysavl daviasagll
       61 raekklrphl akvlvyelll gkgfrggggr wkallgrhqa rlkaelarlk vhrgvsrned
      121 llqessrpgq ayqvprfvrv ntlktrpeda idyfkrqgfs yqgrassled lralkgqhfl
      181 ldpllpellv fpaqtdlheh plyraghlil qdkasclpam llspppgshv idacaapgnk
      241 tsyiaallkn qgkifafdqd akrlaamatl varagvscce laekdfltvs psdqrysqvq
      301 yilldpscsg sgmlsrqlee hgegtpsker lqalagfqqr alchalrfps lqrlvystcs
      361 lcqeenedvv qealqhnsgt frlapvlptw phrglstfpg sehclraspe ttltggffia
      421 vferaevvpt papqtdamdp eplsqvpkrk rrrkaavgas mqpst
//
