LOCUS       NM_152559                922 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens methyltransferase like 27 (METTL27), mRNA.
ACCESSION   NM_152559
VERSION     NM_152559.3
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 922)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 922)
  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   3  (bases 1 to 922)
  AUTHORS   Grossmann,A., Benlasfer,N., Birth,P., Hegele,A., Wachsmuth,F.,
            Apelt,L. and Stelzl,U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 922)
  AUTHORS   Micale,L., Fusco,C., Augello,B., Napolitano,L.M., Dermitzakis,E.T.,
            Meroni,G., Merla,G. and Reymond,A.
  TITLE     Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase
  JOURNAL   Eur J Hum Genet 16 (9), 1038-1049 (2008)
   PUBMED   18398435
REFERENCE   5  (bases 1 to 922)
  AUTHORS   Hahn,Y. and Lee,B.
  TITLE     Identification of nine human-specific frameshift mutations by
            comparative analysis of the human and the chimpanzee genome
            sequences
  JOURNAL   Bioinformatics 21 Suppl 1, i186-i194 (2005)
   PUBMED   15961456
REFERENCE   6  (bases 1 to 922)
  AUTHORS   Osborne,L.R.
  TITLE     Williams-Beuren syndrome: unraveling the mysteries of a
            microdeletion disorder
  JOURNAL   Mol Genet Metab 67 (1), 1-10 (1999)
   PUBMED   10329018
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093168.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_152559.2.
            
            Summary: This gene encodes a protein belonging to ubiE/COQ5
            methyltransferase family. The gene is deleted in Williams syndrome,
            a multisystem developmental disorder caused by the deletion of
            contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF534110.1, AY354928.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297873.9/ ENSP00000297873.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                AC093168.3         77547-77573         c
            28-154              AC093168.3         77075-77201         c
            155-283             AC093168.3         76127-76255         c
            284-419             AC093168.3         75471-75606         c
            420-509             AC093168.3         75088-75177         c
            510-922             AC093168.3         69647-70059         c
FEATURES             Location/Qualifiers
     source          1..922
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..922
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /note="methyltransferase like 27"
                     /db_xref="GeneID:155368"
                     /db_xref="HGNC:HGNC:19068"
                     /db_xref="MIM:612546"
     exon            1..27
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /inference="alignment:Splign:2.1.0"
     exon            28..154
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..769
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /note="williams-Beuren syndrome chromosomal region 27
                     protein; Williams Beuren syndrome chromosome region 27"
                     /codon_start=1
                     /product="methyltransferase-like protein 27"
                     /protein_id="NP_689772.2"
                     /db_xref="CCDS:CCDS5561.1"
                     /db_xref="GeneID:155368"
                     /db_xref="HGNC:HGNC:19068"
                     /db_xref="MIM:612546"
                     /translation="MAQEEGGSLPEVRARVRAAHGIPDLAQKLHFYDRWAPDYDQDVA
                     TLLYRAPRLAVDCLTQALPGPPHSALILDVACGTGLVAAELRAPGFLQLHGVDGSPGM
                     LEQAQAPGLYQRLSLCTLGQEPLPSPEGTFDAVLIVGALSDGQVPCNAIPELHVTKPG
                     GLVCLTTRTNSSNLQYKEALEATLDRLEQAGMWEGLVAWPVDRLWTAGSWLPPSWRWY
                     PASLPRMASSPALSTCTESGRRPRLRK"
     exon            155..283
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /inference="alignment:Splign:2.1.0"
     exon            284..419
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /inference="alignment:Splign:2.1.0"
     exon            420..509
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /inference="alignment:Splign:2.1.0"
     exon            510..922
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      902..907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /note="hexamer: ATTAAA"
     polyA_site      922
                     /gene="METTL27"
                     /gene_synonym="WBSCR27"
                     /note="major polyA site"
ORIGIN      
        1 acacgcccga ggcgcgctgg attggcggag catggcccag gaggagggtg ggagcctgcc
       61 cgaggtgcgg gcgcgggtca gggccgcgca tggcatcccc gacctggccc aaaagctcca
      121 tttctatgac cgctgggctc cggactacga ccaggatgtg gccaccctgc tgtaccgtgc
      181 gccccgcctc gcagtggact gcctcacaca agcccttcca ggcccgcccc acagtgccct
      241 gatcctggac gtggcctgtg gcacaggcct agtggctgcc gagctgcggg ctccaggctt
      301 cctccagctg catggggtgg atgggagccc agggatgctg gaacaggccc aggcccccgg
      361 cctctatcag cgcctcagcc tctgcaccct gggccaggag cctctgccca gcccggaagg
      421 gaccttcgac gcggtgctga tagtcggtgc cctcagtgac ggccaggtgc cctgcaatgc
      481 gatacctgag ctacatgtca ccaagccagg tgggctggtg tgtctgacca ccaggaccaa
      541 ctcgtccaac cttcaataca aggaggctct ggaggccacc ctggacaggc tggagcaggc
      601 tgggatgtgg gaaggcctgg tggcctggcc tgtggaccgc ctgtggaccg ctgggagctg
      661 gctacctccg agctggaggt ggtatccggc atctctgcca aggatggctt catctccggc
      721 attgtctacc tgtaccgaaa gtggaaggcg acccaggttg aggaagtgag atccagcccc
      781 cagcccccag ctggcccctg actccatgtg gccttagctg ggcccatctg ctgggcctcc
      841 tctgcctccc ctgtaaaatg ggacctccga accaaccctg cccctcagaa atgccctgcc
      901 tattaaatga gctcccagaa aa
//
