LOCUS       NM_017528               1201 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens BUD23 rRNA methyltransferase and ribosome maturation
            factor (BUD23), transcript variant 2, mRNA.
ACCESSION   NM_017528
VERSION     NM_017528.5
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 1201)
  AUTHORS   Khan,A.A., Huang,H., Zhao,Y., Li,H., Pan,R., Wang,S. and Liu,X.
  TITLE     WBSCR22 and TRMT112 synergistically suppress cell proliferation,
            invasion and tumorigenesis in pancreatic cancer via transcriptional
            regulation of ISG15
  JOURNAL   Int J Oncol 60 (3) (2022)
   PUBMED   35088887
  REMARK    GeneRIF: WBSCR22 and TRMT112 synergistically suppress cell
            proliferation, invasion and tumorigenesis in pancreatic cancer via
            transcriptional regulation of ISG15.
REFERENCE   2  (bases 1 to 1201)
  AUTHORS   Brumele,B., Mutso,M., Telanne,L., Ounap,K., Spunde,K., Abroi,A. and
            Kurg,R.
  TITLE     Human TRMT112-Methyltransferase Network Consists of Seven Partners
            Interacting with a Common Co-Factor
  JOURNAL   Int J Mol Sci 22 (24), 13593 (2021)
   PUBMED   34948388
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1201)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1201)
  AUTHORS   Chi,Y., Liang,Z., Guo,Y., Chen,D., Lu,L., Lin,J., Qiu,S., Wang,X.,
            Qiu,E., Lin,F., Chen,J., Luo,S., Zheng,D. and Xu,X.
  TITLE     WBSCR22 confers cell survival and predicts poor prognosis in glioma
  JOURNAL   Brain Res Bull 161, 1-12 (2020)
   PUBMED   32380188
  REMARK    GeneRIF: WBSCR22 confers cell survival and predicts poor prognosis
            in glioma.
REFERENCE   5  (bases 1 to 1201)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1201)
  AUTHORS   Kim,J.M., Lee,K.H., Jeon,Y.J., Oh,J.H., Jeong,S.Y., Song,I.S.,
            Kim,J.M., Lee,D.S. and Kim,N.S.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   7  (bases 1 to 1201)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (bases 1 to 1201)
  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  (bases 1 to 1201)
  AUTHORS   Stanchi,F., Bertocco,E., Toppo,S., Dioguardi,R., Simionati,B.,
            Cannata,N., Zimbello,R., Lanfranchi,G. and Valle,G.
  TITLE     Characterization of 16 novel human genes showing high similarity to
            yeast sequences
  JOURNAL   Yeast 18 (1), 69-80 (2001)
   PUBMED   11124703
REFERENCE   10 (bases 1 to 1201)
  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 AF412034.1 and AA508840.1.
            
            On Jun 2, 2019 this sequence version replaced NM_017528.4.
            
            Summary: This gene encodes a protein containing a nuclear
            localization signal and an S-adenosyl-L-methionine binding motif
            typical of methyltransferases, suggesting that the encoded protein
            may act on DNA methylation. This gene is deleted in Williams
            syndrome, a multisystem developmental disorder caused by the
            deletion of contiguous genes at 7q11.23. Alternatively spliced
            transcript variants have been found. [provided by RefSeq, Feb
            2011].
            
            Transcript Variant: This variant (2) lacks an exon in the 3' coding
            region but maintains the reading frame, compared to variant 1. The
            encoded isoform (2) is shorter than 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 :: DRR138512.636920.1, BC011696.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265758.7/ ENSP00000265758.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1125              AF412034.1         30-1154
            1126-1201           AA508840.1         10-85               c
FEATURES             Location/Qualifiers
     source          1..1201
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1201
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /note="BUD23 rRNA methyltransferase and ribosome
                     maturation factor"
                     /db_xref="GeneID:114049"
                     /db_xref="HGNC:HGNC:16405"
                     /db_xref="MIM:615733"
     exon            1..77
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..875
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /EC_number="2.1.1.309"
                     /note="isoform 2 is encoded by transcript variant 2;
                     Williams-Beuren candidate region putative
                     methyltransferase; Williams-Beuren syndrome chromosomal
                     region 22 protein; 18S rRNA
                     (guanine-N(7))-methyltransferase; metastasis-related
                     methyltransferase 1; ribosome biogenesis methyltransferase
                     WBSCR22; bud site selection protein 23 homolog;
                     Williams-Beuren syndrome chromosome region 22; probable
                     18S rRNA (guanine-N(7))-methyltransferase; rRNA
                     methyltransferase and ribosome maturation factor"
                     /codon_start=1
                     /product="18S rRNA (guanine-N(7))-methyltransferase
                     isoform 2"
                     /protein_id="NP_059998.2"
                     /db_xref="CCDS:CCDS5557.1"
                     /db_xref="GeneID:114049"
                     /db_xref="HGNC:HGNC:16405"
                     /db_xref="MIM:615733"
                     /translation="MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRAL
                     ELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLL
                     GDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAV
                     LQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSE
                     NQDEVEPRESVFTNERFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRK
                     RKPRF"
     exon            78..115
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            116..211
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            212..294
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            295..391
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            392..488
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            489..539
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            540..625
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            626..671
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            672..730
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            731..820
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     exon            821..1201
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1181..1186
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /note="hexamer: AATAAA"
     polyA_site      1201
                     /gene="BUD23"
                     /gene_synonym="HASJ4442; HUSSY-3; MERM1; PP3381; WBMT;
                     WBSCR22"
                     /note="major polyA site"
ORIGIN      
        1 agtcgcaggt gtgctgctga ggcgtgagaa tggcgtcccg cggccggcgt ccggagcatg
       61 gcggaccccc agagctgttt tatgacgaga cagaagcccg gaaatacgtt cgcaactcac
      121 ggatgattga tatccagacc aggatggctg ggcgagcatt ggagcttctt tatctgccag
      181 agaataagcc ctgttacctg ctggatattg gctgtggcac tgggctgagt ggaagttatc
      241 tgtcagatga agggcactat tgggtgggcc tggatatcag ccctgccatg ctggatgagg
      301 ctgtggaccg agagatagag ggagacctgc tgctggggga tatgggccag ggcatcccat
      361 tcaagccagg cacatttgat ggttgcatca gcatttctgc tgtgcagtgg ctctgtaatg
      421 ctaacaagaa gtctgaaaac cctgccaagc gcctgtactg cttttttgct tctctttttt
      481 ctgttctcgt ccggggatcc cgagctgtcc tgcagctgta ccctgagaac tcagagcagt
      541 tggagctgat cacaacccag gccacaaagg caggcttctc cggtggcatg gtggtagact
      601 accctaacag tgccaaagca aagaaattct acctctgctt gttttctggg ccttcgacct
      661 ttataccaga ggggctgagt gaaaatcagg atgaagttga acccagggag tctgtgttca
      721 ccaatgagag gttcccatta aggatgtcga ggcggggaat ggtgaggaag agtcgggcat
      781 gggtgctgga gaagaaggag cggcacaggc gccagggcag ggaagtcaga cctgacaccc
      841 agtacaccgg ccgcaagcgc aagccccgct tctaagtcac cacgcggttc tggaaaggca
      901 cttgcctctg cacttttcta tattgttcag ctgacaaagt agtattttag aaaagttcta
      961 aagttataaa aatgttttct gcagtaaaaa aaaagttctc tgggccgggc gtggtggctc
     1021 acacctgtaa tcccagcacc ttgggaggct gaggtgggag gatcatttga ggccaggagt
     1081 ttgagacctg cctgggcaac ataatgaaac ttcctttcca gggaggaaaa aaaaaaaaaa
     1141 aaaaagctct gagagcatct tattttgttt aaaggcaaga aataaaattt ccttttgtgg
     1201 a
//
