LOCUS       NM_006331               4873 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens EMG1 N1-specific pseudouridine methyltransferase
            (EMG1), transcript variant 1, mRNA.
ACCESSION   NM_006331
VERSION     NM_006331.8
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 4873)
  AUTHORS   Wu,X., Wu,Z., Xie,Z., Huang,H., Wang,Y., Lv,K., Yang,H. and Liu,X.
  TITLE     The role of EMG1 in lung adenocarcinoma progression: Implications
            for prognosis and immune cell infiltration
  JOURNAL   Int Immunopharmacol 138, 112553 (2024)
   PUBMED   38943975
  REMARK    GeneRIF: The role of EMG1 in lung adenocarcinoma progression:
            Implications for prognosis and immune cell infiltration.
REFERENCE   2  (bases 1 to 4873)
  AUTHORS   Singh,S., Vanden Broeck,A., Miller,L., Chaker-Margot,M. and
            Klinge,S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   3  (bases 1 to 4873)
  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   4  (bases 1 to 4873)
  AUTHORS   Warda,A.S., Freytag,B., Haag,S., Sloan,K.E., Gorlich,D. and
            Bohnsack,M.T.
  TITLE     Effects of the Bowen-Conradi syndrome mutation in EMG1 on its
            nuclear import, stability and nucleolar recruitment
  JOURNAL   Hum Mol Genet 25 (24), 5353-5364 (2016)
   PUBMED   27798105
  REMARK    GeneRIF: Our findings further indicate that in Bowen-Conradi
            syndrome, nuclear disassembly of the import complex and release of
            EMG1D86G lead to its nuclear aggregation and degradation, resulting
            in the reduced nucleolar recruitment of the RNA methyltransferase
            and defects in the biogenesis of the small ribosomal subunit.
REFERENCE   5  (bases 1 to 4873)
  AUTHORS   Wurm,J.P., Meyer,B., Bahr,U., Held,M., Frolow,O., Kotter,P.,
            Engels,J.W., Heckel,A., Karas,M., Entian,K.D. and Wohnert,J.
  TITLE     The ribosome assembly factor Nep1 responsible for Bowen-Conradi
            syndrome is a pseudouridine-N1-specific methyltransferase
  JOURNAL   Nucleic Acids Res 38 (7), 2387-2398 (2010)
   PUBMED   20047967
REFERENCE   6  (bases 1 to 4873)
  AUTHORS   Armistead,J., Khatkar,S., Meyer,B., Mark,B.L., Patel,N.,
            Coghlan,G., Lamont,R.E., Liu,S., Wiechert,J., Cattini,P.A.,
            Koetter,P., Wrogemann,K., Greenberg,C.R., Entian,K.D., Zelinski,T.
            and Triggs-Raine,B.
  TITLE     Mutation of a gene essential for ribosome biogenesis, EMG1, causes
            Bowen-Conradi syndrome
  JOURNAL   Am J Hum Genet 84 (6), 728-739 (2009)
   PUBMED   19463982
  REMARK    GeneRIF: Mutation of a gene essential for ribosome biogenesis,
            EMG1, causes Bowen-Conradi syndrome.
REFERENCE   7  (bases 1 to 4873)
  AUTHORS   Lamont,R.E., Loredo-Osti,J., Roslin,N.M., Mauthe,J., Coghlan,G.,
            Nylen,E., Frappier,D., Innes,A.M., Lemire,E.G., Lowry,R.B.,
            Greenberg,C.R., Triggs-Raine,B.L., Morgan,K., Wrogemann,K.,
            Fujiwara,T.M. and Zelinski,T.
  TITLE     A locus for Bowen-Conradi syndrome maps to chromosome region
            12p13.3
  JOURNAL   Am J Med Genet A 132A (2), 136-143 (2005)
   PUBMED   15578624
REFERENCE   8  (bases 1 to 4873)
  AUTHORS   Bernstein,K.A., Gallagher,J.E., Mitchell,B.M., Granneman,S. and
            Baserga,S.J.
  TITLE     The small-subunit processome is a ribosome assembly intermediate
  JOURNAL   Eukaryot Cell 3 (6), 1619-1626 (2004)
   PUBMED   15590835
REFERENCE   9  (bases 1 to 4873)
  AUTHORS   Eschrich,D., Buchhaupt,M., Kotter,P. and Entian,K.D.
  TITLE     Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea,
            is involved in ribosome biogenesis
  JOURNAL   Curr Genet 40 (5), 326-338 (2002)
   PUBMED   11935223
REFERENCE   10 (bases 1 to 4873)
  AUTHORS   Liu,P.C. and Thiele,D.J.
  TITLE     Novel stress-responsive genes EMG1 and NOP14 encode conserved,
            interacting proteins required for 40S ribosome biogenesis
  JOURNAL   Mol Biol Cell 12 (11), 3644-3657 (2001)
   PUBMED   11694595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC403138.1, BC055314.1,
            AI394112.1 and AC006512.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006331.7.
            
            Summary: This gene encodes an essential, conserved eukaryotic
            protein that methylates pseudouridine in 18S rRNA. The related
            protein in yeast is a component of the small subunit processome and
            is essential for biogenesis of the ribosomal 40S subunit. A
            mutation in this gene has been associated with Bowen-Conradi
            syndrome. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.200170.1,
                                           SRR1803616.79428.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000599672.6/ ENSP00000470560.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-241               DC403138.1         133-373
            242-914             BC055314.1         266-938
            915-940             AI394112.1         1-26                c
            941-4873            AC006512.13        60434-64366
FEATURES             Location/Qualifiers
     source          1..4873
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..4873
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /note="EMG1 N1-specific pseudouridine methyltransferase"
                     /db_xref="GeneID:10436"
                     /db_xref="HGNC:HGNC:16912"
                     /db_xref="MIM:611531"
     exon            1..179
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..746
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     essential for mitotic growth 1; EMG1 nucleolar protein
                     homolog; 18S rRNA
                     (pseudouridine(1248)-N1)-methyltransferase; ribosomal RNA
                     small subunit methyltransferase NEP1; ribosome biogenesis
                     protein NEP1; 18S rRNA Psi1248 methyltransferase; 18S rRNA
                     (pseudouridine-N1-)-methyltransferase NEP1; nucleolar
                     essential protein 1"
                     /codon_start=1
                     /product="ribosomal RNA small subunit methyltransferase
                     NEP1 isoform 1"
                     /protein_id="NP_006322.4"
                     /db_xref="CCDS:CCDS73430.1"
                     /db_xref="GeneID:10436"
                     /db_xref="HGNC:HGNC:16912"
                     /db_xref="MIM:611531"
                     /translation="MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLI
                     VVLEGASLETVKVGKTYELLNCDKHKSILLKNGRDPGEARPDITHQSLLMLMDSPLNR
                     AGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIK
                     NPVSDHFPVGCMKVGTSFSIPVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVS
                     ISNYPLSAALTCAKLTTAFEEVWGVI"
     exon            180..281
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /inference="alignment:Splign:2.1.0"
     exon            282..423
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /inference="alignment:Splign:2.1.0"
     exon            424..482
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /inference="alignment:Splign:2.1.0"
     exon            483..632
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /inference="alignment:Splign:2.1.0"
     exon            633..4873
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      914
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /note="major polyA site"
     polyA_site      941
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
     regulatory      4853..4858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
                     /note="hexamer: AATAAA"
     polyA_site      4873
                     /gene="EMG1"
                     /gene_synonym="C2F; Grcc2f; NEP1"
ORIGIN      
        1 attgttgcaa gatggccgcg cccagtgatg gattcaagcc tcgtgaacga agcggtgggg
       61 agcaggcaca ggactgggat gctctgccac ccaagcggcc ccgactaggg gcaggaaaca
      121 agatcggagg ccgtaggctt attgtggtgc tggaaggggc cagtctggag acagtcaagg
      181 tagggaagac atatgagcta ctcaactgtg acaagcacaa gtctatattg ttgaagaatg
      241 gacgggaccc tggggaagcg cggccagata tcacccacca gagtttgctg atgctgatgg
      301 atagtcccct gaaccgagct ggcttgctac aggtttatat ccatacacag aagaatgttc
      361 tgattgaagt gaatccccag acccgaattc ccagaacctt tgaccgcttt tgtggcctca
      421 tggttcaact tttacacaag ctcagtgttc gagcagctga tggcccccag aagcttttga
      481 aggtaattaa gaatccagta tcagatcact ttccagttgg atgtatgaaa gttggcactt
      541 ctttttccat cccggttgtc agtgatgtgc gtgagctggt gcccagcagt gatcctattg
      601 tttttgtggt aggggccttt gcccatggca aggtcagtgt ggagtataca gagaagatgg
      661 tgtccatcag taactacccc ctttctgctg ccctcacctg tgcaaaactt accacagcct
      721 ttgaggaagt atggggggtc atttgacagt agtagaacct gttctgaaac cagaaactgt
      781 tgatgtcaca tcctttgacc ctggtctgag ctgactgctg gaagatgatc tttctgcact
      841 gagactgtgg agtttgggga agccaaggct gtacatttgc tatttgttta tcctatgaat
      901 actgttcttg caaacctggt tgttttgggg ttcctaaagt atccagtggt gtaaaactgt
      961 ttgttccccg ggacttcagg gacagatagg aggttacaga gtttgcagtt tggttccatg
     1021 ctttgaaggc aggctttagc tcccagattc ccatgtgcta aaggagagaa ccctgatgat
     1081 ggagaagaac tgtgaaagag agcagtcagg aatgctagtg gtgaaaaact gaacaaacag
     1141 aagtgatttt atctaataca gttccaaggt agaaaaagtg gagcaggcag ggccttgcac
     1201 ccctctccac ccccccatgg ggggggtggt ggtagcggca catacacaat catagtaaat
     1261 tggcagaaga aaaacacaat agattcctgg ctagatgggg agagataagg caatgtgcat
     1321 gggggaatca gaggggagat gtgagcccct ctgctcctcc cacaagagtt tcccctttgg
     1381 gccgggcacg gtggctcacg cctgtaatcc cagcactttg ggaggcggag gcgggtggat
     1441 cacttgcggt caggagttcg agaccagcct ggccaacgtg gtgaaatccc gtttctactg
     1501 aaaatacaaa aattagctgg gcatggtggc gtgcctgtat tcccagctac ttgggaggct
     1561 gaggcaggaa aatcacttga acccaggagg tggaggttgc ggtgagctga gatcccgcca
     1621 ctgcattcca gcgtgggtga caaagcaaga cgccttctcc aaaaaaaagt ttcccctttg
     1681 gccccaaatg aagacttggc tggcagcaga ggcacagctg gaagcatcga tcttccacct
     1741 ccctggcttt tccattctct gctctggggc aaaggagtgc tgtgaaaagg gagacgagta
     1801 gtttctgcac cagtcccgca caggccacct gcaagacaag aggagtttgg aaggctggtt
     1861 agttactcct gtaattcctg gtctatagcc cttccagatg tttcctagca tgcctcaata
     1921 agtcacagta gtcattgccc atactgtgtt ccttagtagc caggctaatc cttggaattc
     1981 accccagatt tctaatacta ttgttttttt ccagtctgtt gctctattct gtaacctggt
     2041 ggtagtttta gtttagctgt attaacttac cagggaaatg gattattcca tcttctttaa
     2101 cttctctttc cttggcacca ttgctttgtg aatataaggc aatatgaata gtaggctcag
     2161 gaagaagatg tggccaagga aatagatgga tttatacacc tgtggagaga gaggccacta
     2221 aggtagacag gcctggagtg tcctttgcaa cctttgaggt tgcagtgagt ccctcccagt
     2281 ctcacaagca ggccttcact tgccttaagc catttgtccc acgtgaagag gcagaaggca
     2341 gtcatggagt aacccatgaa gagccagtgg atggtctgtt gcaccaaata gtagaagggc
     2401 tggaggacag taatggcggc cagcttgctc agggtggggc tctcttgaat gagcctggca
     2461 gcctggggag ggaggaggag ctcatcagca tcttgtccct tatattcccc ttcaccccca
     2521 ccctggaggc ctacctgtct ttccacaata acaatgagga attccatctg gaagcagacc
     2581 aggtatcctg agtgcaggcc gtgccagagg gccaggaata gcaacgagag accctgagag
     2641 agttctttat ttccaaggaa cttgagtcgt ttgaagatgt agctggagaa aagggtgggt
     2701 ggggcgaccc tcaaactgac tggtccttgc atcccgccac ctgcctctgg gtcctcaccc
     2761 tgaggattgg attggagtgc tggtgggttc ccacgtgtag cccccagagg gtacaggagg
     2821 cagtgctgac tgattacttt tagagatgga aagcagaccc aaggcggagc tggagaccgt
     2881 gtgcgcacga gccacttggt tcagcagcag tgactgaggc tgatgctgag atcagtggtg
     2941 aaccagacac tctactcaag ctgcccacac tctagtggtg gggacaaaca agtaaagctg
     3001 ttgataaaca gggcagtgga ggacataagt ccattggcag agctggagta acacccaggt
     3061 cttaacgcac ttttatatct tgcctttttt tcaaatatga cagtaatggt ttttttggga
     3121 ggggggtata ggtgggggtc aaagtcagtg tgagcgacag ggggttctgc ccagatggga
     3181 aagacgcata ggggtgacat ggtacacccc tgccctccaa tctgggaaga cagtggaagg
     3241 aaggaaccag ggtccaggct ccccaccagc agctcaccgg gccacccagg cgttggtgtt
     3301 gatgttgaat gaggcaatgg tgccagtgaa gcgggggttt gtttcaaaga gccacacctt
     3361 catgttggca caggcatccc actttgcctt gcccttttct tcaaagccat tgaagcccag
     3421 gcccgtcaaa atgcatactc cttcctgaga gggaatagct cagttagggc tcttgccact
     3481 ccccatactg gcccccatgg cttgtctaaa taggaccttg tttcaacttt tctacttact
     3541 gtgaccagcc aacaggtgac atatttgtac agcacaaact tgccccagat cagcatgtac
     3601 atgcagcgga accagaaggg gtggttcttg agggaagaaa gcacagtgca ttagggatat
     3661 cacatgacta ggcagtttct ctcagcactc ttccttttca cacttgtggc tggctacttc
     3721 atacctgcct gagtcctgct gccagatgcc ctcaatagtc tggcctgatt gccttcacaa
     3781 taggcagaga ggaataagca gagggcctgg agaatattca ttcgcctttc ccttggagag
     3841 cctcaagggc agcactgtat ttaacttctc tactgtttgc cttcgttggc aaagtgtttg
     3901 gaatgagcat ttggaatgtt aagtacagag gggcccatat tggattttaa tttaaggaga
     3961 gaaacctgcc cagaattact gaactgtttt caagcctttc agctgggcag gagcaaaagc
     4021 cagcacttcc ccccttccct tggtttctga attccctaga agtgcccaaa tgtatcagtc
     4081 aagagaagaa aataggatgg agaatcagaa gctgctgtgc tctgaggggt cacgtggatg
     4141 tgataaggca agctaggagc ggctcctaga gaaggcaacg ggtgctaaat gtgcacctgg
     4201 cacagccctg tgcccgcgaa ggttgttcag tgctggctga tgaacatgtc ccagcacggc
     4261 tggcattgac aactcacaga tctagagcaa aaccaacatg cacttgtaga tgatatttcc
     4321 tacttctctg ctatctgtag ggatccttgc ctgtccattt tctagctctg gtgcagtcat
     4381 gctgctgctg ctttagtaga cactcacgtc atagtcttca gtgaggagat agtcttctgt
     4441 gatgtggggg ctgagcagtg tgtagcccac taggtagaaa aggcccagac tcaggcgctt
     4501 gagagcagga atgatgctgg aaaggaacga gtgaagttcc tggtcacaga gagcagagac
     4561 tattcccttc accctctgac cttcagttat ggagaggagt gtttaggggt gtggttgtct
     4621 acctggaatg ggatgagaag ctctgctgcc caaagtgttt cctgtttcag ggaaagattt
     4681 ctatggctgg ctatgaggaa tggggactgc aaacctctta agagttgtag gaaagtcagg
     4741 gcagcagaca gtggaccagt cttgtgttta cccctcaggg atgctactga tctcaaggtc
     4801 ttgccaggtc tcacaatctc cattgggact gaaaacccag tggaggtaag ataataaaaa
     4861 taaccacttt gaa
//
