LOCUS       NM_012280               1899 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens FtsJ RNA 2'-O-methyltransferase 1 (FTSJ1), transcript
            variant 1, mRNA.
ACCESSION   NM_012280
VERSION     NM_012280.4
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  (bases 1 to 1899)
  AUTHORS   Brazane,M., Dimitrova,D.G., Pigeon,J., Paolantoni,C., Ye,T.,
            Marchand,V., Da Silva,B., Schaefer,E., Angelova,M.T., Stark,Z.,
            Delatycki,M., Dudding-Byth,T., Gecz,J., Placais,P.Y., Teysset,L.,
            Preat,T., Piton,A., Hassan,B.A., Roignant,J.Y., Motorin,Y. and
            Carre,C.
  TITLE     The ribose methylation enzyme FTSJ1 has a conserved role in neuron
            morphology and learning performance
  JOURNAL   Life Sci Alliance 6 (4), e202201877 (2023)
   PUBMED   36720500
  REMARK    GeneRIF: The ribose methylation enzyme FTSJ1 has a conserved role
            in neuron morphology and learning performance.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1899)
  AUTHORS   Li,J., Wang,Y.N., Xu,B.S., Liu,Y.P., Zhou,M., Long,T., Li,H.,
            Dong,H., Nie,Y., Chen,P.R., Wang,E.D. and Liu,R.J.
  TITLE     Intellectual disability-associated gene ftsj1 is responsible for
            2'-O-methylation of specific tRNAs
  JOURNAL   EMBO Rep 21 (8), e50095 (2020)
   PUBMED   32558197
  REMARK    GeneRIF: Intellectual disability-associated gene ftsj1 is
            responsible for 2'-O-methylation of specific tRNAs.
REFERENCE   3  (bases 1 to 1899)
  AUTHORS   He,Q., Yang,L., Gao,K., Ding,P., Chen,Q., Xiong,J., Yang,W.,
            Song,Y., Wang,L., Wang,Y., Ling,L., Wu,W., Yan,J., Zou,P., Chen,Y.
            and Zhai,R.
  TITLE     FTSJ1 regulates tRNA 2'-O-methyladenosine modification and
            suppresses the malignancy of NSCLC via inhibiting DRAM1 expression
  JOURNAL   Cell Death Dis 11 (5), 348 (2020)
   PUBMED   32393790
  REMARK    GeneRIF: FTSJ1 regulates tRNA 2'-O-methyladenosine modification and
            suppresses the malignancy of NSCLC via inhibiting DRAM1 expression.
            Erratum:[Cell Death Dis. 2020 Jun 3;11(6):418. doi:
            10.1038/s41419-020-2623-9.. PMID: 32488007]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1899)
  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   5  (bases 1 to 1899)
  AUTHORS   Jensen,L.R., Garrett,L., Holter,S.M., Rathkolb,B., Racz,I.,
            Adler,T., Prehn,C., Hans,W., Rozman,J., Becker,L.,
            Aguilar-Pimentel,J.A., Puk,O., Moreth,K., Dopatka,M., Walther,D.J.,
            von Bohlen Und Halbach,V., Rath,M., Delatycki,M., Bert,B., Fink,H.,
            Blumlein,K., Ralser,M., Van Dijck,A., Kooy,F., Stark,Z., Muller,S.,
            Scherthan,H., Gecz,J., Wurst,W., Wolf,E., Zimmer,A.,
            Klingenspor,M., Graw,J., Klopstock,T., Busch,D., Adamski,J.,
            Fuchs,H., Gailus-Durner,V., de Angelis,M.H., von Bohlen Und
            Halbach,O., Ropers,H.H. and Kuss,A.W.
  TITLE     A mouse model for intellectual disability caused by mutations in
            the X-linked 2'-O-methyltransferase Ftsj1 gene
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1865 (9), 2083-2093 (2019)
   PUBMED   30557699
  REMARK    GeneRIF: Mutations in the Ftsj1 gene is associated with
            intellectual disability.
REFERENCE   6  (bases 1 to 1899)
  AUTHORS   Ropers,H.H., Hoeltzenbein,M., Kalscheuer,V., Yntema,H., Hamel,B.,
            Fryns,J.P., Chelly,J., Partington,M., Gecz,J. and Moraine,C.
  TITLE     Nonsyndromic X-linked mental retardation: where are the missing
            mutations?
  JOURNAL   Trends Genet 19 (6), 316-320 (2003)
   PUBMED   12801724
REFERENCE   7  (bases 1 to 1899)
  AUTHORS   Pintard,L., Kressler,D. and Lapeyre,B.
  TITLE     Spb1p is a yeast nucleolar protein associated with Nop1p and Nop58p
            that is able to bind S-adenosyl-L-methionine in vitro
  JOURNAL   Mol Cell Biol 20 (4), 1370-1381 (2000)
   PUBMED   10648622
  REMARK    GeneRIF: Spb1p is a homologous yeast nucleolar protein
REFERENCE   8  (bases 1 to 1899)
  AUTHORS   Hamel,B.C., Smits,A.P., van den Helm,B., Smeets,D.F., Knoers,N.V.,
            van Roosmalen,T., Thoonen,G.H., Assman-Hulsmans,C.F., Ropers,H.H.,
            Mariman,E.C. and Kremer,H.
  TITLE     Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific
            X-linked mental retardation: clinical and psychometric data and
            results of linkage analysis
  JOURNAL   Am J Med Genet 85 (3), 290-304 (1999)
   PUBMED   10398246
REFERENCE   9  (bases 1 to 1899)
  AUTHORS   Willems,P., Vits,L., Buntinx,I., Raeymaekers,P., Van Broeckhoven,C.
            and Ceulemans,B.
  TITLE     Localization of a gene responsible for nonspecific mental
            retardation (MRX9) to the pericentromeric region of the X
            chromosome
  JOURNAL   Genomics 18 (2), 290-294 (1993)
   PUBMED   8288232
REFERENCE   10 (bases 1 to 1899)
  AUTHORS   Mulley,J.C., Kerr,B., Stevenson,R. and Lubs,H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ005892.1 and AF063015.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_012280.3.
            
            Summary: This gene encodes a member of the methyltransferase
            superfamily. The encoded protein localizes to the nucleolus, binds
            to S-adenosylmethionine, and may be involved in the processing and
            modification of ribosomal RNA. Mutations in this gene are
            associated with cognitive disability. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR1660805.133868.1,
                                           SRR5189658.154954.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348411.3/ ENSP00000326948.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1852              AJ005892.1         16-1867
            1853-1899           AF063015.1         1618-1664
FEATURES             Location/Qualifiers
     source          1..1899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1899
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /note="FtsJ RNA 2'-O-methyltransferase 1"
                     /db_xref="GeneID:24140"
                     /db_xref="HGNC:HGNC:13254"
                     /db_xref="MIM:300499"
     exon            1..198
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            199..406
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     CDS             286..1275
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /EC_number="2.1.1.205"
                     /note="isoform a is encoded by transcript variant 1; cell
                     division protein; rRNA (uridine-2'-O-)-methyltransferase;
                     putative ribosomal RNA methyltransferase 1; FtsJ RNA
                     methyltransferase homolog 1; FtsJ-like protein 1; tRNA
                     methyltransferase 7 homolog; 2'-O-ribose RNA
                     methyltransferase TRM7 homolog; tRNA
                     (cytidine(32)/guanosine(34)-2'-O)-methyltransferase;
                     putative tRNA
                     (cytidine(32)/guanosine(34)-2'-O)-methyltransferase"
                     /codon_start=1
                     /product="tRNA
                     (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
                     isoform a"
                     /protein_id="NP_036412.1"
                     /db_xref="CCDS:CCDS14294.1"
                     /db_xref="GeneID:24140"
                     /db_xref="HGNC:HGNC:13254"
                     /db_xref="MIM:300499"
                     /translation="MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTR
                     AVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMAPLPGVVQIQGDITQLSTAKEII
                     QHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
                     RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSY
                     DPDFNQLDGPTRIIVPFVTCGDLSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQE
                     ACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMEDNEMSCSP"
     exon            407..476
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            477..567
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            568..646
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            647..699
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            700..753
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            754..856
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            857..940
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1044
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1242
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1284
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1899
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1824..1829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /note="hexamer: ATTAAA"
     polyA_site      1854
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /note="major polyA site"
     regulatory      1869..1874
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /note="hexamer: AATATA"
     regulatory      1879..1884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
                     /note="hexamer: AATAAT"
     polyA_site      1894
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
     polyA_site      1899
                     /gene="FTSJ1"
                     /gene_synonym="CDLIV; JM23; MRX44; MRX9; SPB1; TRMT7;
                     XLID9"
ORIGIN      
        1 gttcacatca ggtcccggcc cgccggaacc tgggcgatcc acgatgccga gtttgccacg
       61 ctgcgacagc ccataggctt gcccccccgg gcattcgggt ggactacgaa cacaaactga
      121 agccctagga cttgtcgccc gtttgcgctc tcgccgaggc acaggctgct cgcggaccac
      181 cctgctccga aaactaagag gtaggtggta gcccattcat ctggttactg atactggccg
      241 gcatcagtgg actgtcggca ggtccttgag caactggtgt gtgaaatggg acggacgtca
      301 aaggacaagc gggatgtcta ctaccgcctg gccaaggaga atggctggcg tgctcgcagc
      361 gccttcaaac tgctacaact ggataaggaa ttccaactct tccaaggcgt gacacgggca
      421 gttgacctgt gtgcagcccc aggcagctgg agccaggtgc tgagccagaa gatcgggggc
      481 caagggtccg gccacgtggt ggctgtggac ctgcaggcta tggctccact accaggtgtg
      541 gtacagatcc agggggacat cacccagctg tccactgcca aggagatcat ccagcacttt
      601 aagggctgcc ctgcggacct agtggtgtgt gacggggctc ctgatgtaac cggtctccat
      661 gatgttgatg agtatatgca ggcccagctc ctcctagctg ctctgaacat tgctacacat
      721 gtcctgaagc cagggggctg ctttgtggcc aagatattcc gaggccggga tgtgacgctc
      781 ctctacagcc agctgcaggt cttcttctcc agcgtgctgt gtgccaagcc caggagcagc
      841 cggaactcta gcatcgaggc cttcgctgtc tgtcagggct atgaccctcc cgagggcttc
      901 atcccggacc tgagcaaacc cctgctggac cattcttacg acccagattt caaccagctg
      961 gatggtccca cccgcatcat tgtgcctttt gtgacctgtg gggacctgag ctcctatgat
     1021 tcggaccgca gttacccact ggacctagag ggcggctcag agtacaagta cactccaccc
     1081 acacagcccc ccatctcgcc accataccag gaggcctgca cgttgaagag gaaggggcag
     1141 ctggccaagg agatccgccc ccaggactgc cccatcagca gagtggacac gtttccccag
     1201 cccctggccg cccctcagtg ccacaccctg ctggcccctg agatggaaga caatgaaatg
     1261 agttgttcac cttaacccat tacgctggca aactgataca actcagaaac tgctcaatgt
     1321 caggaaaacc ggaacttgtt gatgaacttg ttttcaaaat atcatctcat caacgaggcc
     1381 tggacaaaca agccctgagg agggatctgc aacaaccctg aagacaacaa ggaaagaaac
     1441 catgaaagtc tgtctgtact gcagtgggaa ttcttgagtg aggtcttacc tcttctttaa
     1501 acctcttcag gagtgtcctg attatgtcca gaattttccc taaaggcagg gattcttaac
     1561 ctggatagaa gccaggggta accatgaact tgatggaaga aaatgttaca tctttatttt
     1621 cagcaatgaa actgaaattt agccttactc ccaagttata aatgctggca acaaatcaca
     1681 gtagtaaaag cagtacctgg gattttccca ccaatacaaa ccagttacag caactgtaat
     1741 gtaacataaa aagggcatct tgaagtattg ttcatatttg tcacctcttg gaatgatagc
     1801 agatcctgta agttgatgta ttaattaaaa agcccatata ttactgcatc tcaattttgt
     1861 ttcaatttaa tatatagtaa taattgtaat tcaatgtaa
//
