LOCUS       NM_001136035            2128 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens tRNA methyltransferase 1 (TRMT1), transcript variant
            2, mRNA.
ACCESSION   NM_001136035
VERSION     NM_001136035.4
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 2128)
  AUTHORS   Zhang,K., Eldin,P., Ciesla,J.H., Briant,L., Lentini,J.M., Ramos,J.,
            Cobb,J., Munger,J. and Fu,D.
  TITLE     Proteolytic cleavage and inactivation of the TRMT1 tRNA
            modification enzyme by SARS-CoV-2 main protease
  JOURNAL   Elife 12, 90316 (2024)
   PUBMED   38814682
  REMARK    GeneRIF: Proteolytic cleavage and inactivation of the TRMT1 tRNA
            modification enzyme by SARS-CoV-2 main protease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2128)
  AUTHORS   Xiong,Q.P., Li,J., Li,H., Huang,Z.X., Dong,H., Wang,E.D. and
            Liu,R.J.
  TITLE     Human TRMT1 catalyzes m2G or m22G formation on tRNAs in a
            substrate-dependent manner
  JOURNAL   Sci China Life Sci 66 (10), 2295-2309 (2023)
   PUBMED   37204604
  REMARK    GeneRIF: Human TRMT1 catalyzes m[2]G or m[2]2G formation on tRNAs
            in a substrate-dependent manner.
REFERENCE   3  (bases 1 to 2128)
  AUTHORS   Lu,J.L. and Zhou,X.L.
  TITLE     SARS-CoV-2 main protease Nsp5 cleaves and inactivates human tRNA
            methyltransferase TRMT1
  JOURNAL   J Mol Cell Biol 15 (4) (2023)
   PUBMED   37073102
  REMARK    GeneRIF: SARS-CoV-2 main protease Nsp5 cleaves and inactivates
            human tRNA methyltransferase TRMT1.
REFERENCE   4  (bases 1 to 2128)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   5  (bases 1 to 2128)
  AUTHORS   Zhang,K., Lentini,J.M., Prevost,C.T., Hashem,M.O., Alkuraya,F.S.
            and Fu,D.
  TITLE     An intellectual disability-associated missense variant in TRMT1
            impairs tRNA modification and reconstitution of enzymatic activity
  JOURNAL   Hum Mutat 41 (3), 600-607 (2020)
   PUBMED   31898845
  REMARK    GeneRIF: An intellectual disability-associated missense variant in
            TRMT1 impairs tRNA modification and reconstitution of enzymatic
            activity.
REFERENCE   6  (bases 1 to 2128)
  AUTHORS   Blaesius,K., Abbasi,A.A., Tahir,T.H., Tietze,A., Picker-Minh,S.,
            Ali,G., Farooq,S., Hu,H., Latif,Z., Khan,M.N. and Kaindl,A.
  TITLE     Mutations in the tRNA methyltransferase 1 gene TRMT1 cause
            congenital microcephaly, isolated inferior vermian hypoplasia and
            cystic leukomalacia in addition to intellectual disability
  JOURNAL   Am J Med Genet A 176 (11), 2517-2521 (2018)
   PUBMED   30289604
  REMARK    GeneRIF: mutations in the methyltransferase TRMT1 lead to a
            microcephalic phenotype and isolated inferior vermian hypoplasia
REFERENCE   7  (bases 1 to 2128)
  AUTHORS   Dewe,J.M., Fuller,B.L., Lentini,J.M., Kellner,S.M. and Fu,D.
  TITLE     TRMT1-Catalyzed tRNA Modifications Are Required for Redox
            Homeostasis To Ensure Proper Cellular Proliferation and Oxidative
            Stress Survival
  JOURNAL   Mol Cell Biol 37 (21), e00214-17 (2017)
   PUBMED   28784718
  REMARK    GeneRIF: Results uncover a biological role for TRMT1-catalyzed tRNA
            modification in redox metabolism and show that individuals with
            TRMT1-associated ID are likely to have major perturbations in
            cellular homeostasis due to the lack of m2,2G modifications.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2128)
  AUTHORS   Davarniya,B., Hu,H., Kahrizi,K., Musante,L., Fattahi,Z.,
            Hosseini,M., Maqsoud,F., Farajollahi,R., Wienker,T.F., Ropers,H.H.
            and Najmabadi,H.
  TITLE     The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect
            in Intellectual Disability in Two Azeri Families
  JOURNAL   PLoS One 10 (8), e0129631 (2015)
   PUBMED   26308914
  REMARK    GeneRIF: a missense variant was found in GRM1 gene, while in the
            second family, a frameshift alteration was identified in TRMT1,
            both of which were found to co-segregate with the intellectual
            disability.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2128)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   10 (bases 1 to 2128)
  AUTHORS   Liu,J. and Straby,K.B.
  TITLE     The human tRNA(m(2)(2)G(26))dimethyltransferase: functional
            expression and characterization of a cloned hTRM1 gene
  JOURNAL   Nucleic Acids Res 28 (18), 3445-3451 (2000)
   PUBMED   10982862
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005546.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 4, 2019 this sequence version replaced NM_001136035.3.
            
            Summary: This gene encodes a tRNA-modifying enzyme that acts as a
            dimethyltransferase, modifying a single guanine residue at position
            26 of the tRNA. The encoded enzyme has both mono- and dimethylase
            activity when exogenously expressed, and uses S-adenosyl methionine
            as a methyl donor. The C-terminal region of the encoded protein has
            both a zinc finger motif, and an arginine/proline-rich region.
            Mutations in this gene have been implicated in autosomal recessive
            intellectual disorder (ARID). Alternative splicing results in
            multiple transcript variants encoding different isoforms. There is
            a pseudogene of this gene on the X chromosome. [provided by RefSeq,
            May 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AK000251.1, AK292377.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357720.9/ ENSP00000350352.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-88                AC005546.1         24308-24395         c
            89-374              AC005546.1         23801-24086         c
            375-430             AC005546.1         23652-23707         c
            431-573             AC005546.1         23281-23423         c
            574-761             AC005546.1         22934-23121         c
            762-877             AC005546.1         20551-20666         c
            878-990             AC005546.1         20360-20472         c
            991-1139            AC005546.1         17813-17961         c
            1140-1226           AC005546.1         17570-17656         c
            1227-1296           AC005546.1         17424-17493         c
            1297-1431           AC005546.1         17205-17339         c
            1432-1517           AC005546.1         17036-17121         c
            1518-1626           AC005546.1         15406-15514         c
            1627-1703           AC005546.1         15229-15305         c
            1704-1823           AC005546.1         13142-13261         c
            1824-1953           AC005546.1         12922-13051         c
            1954-2128           AC005546.1         12562-12736         c
FEATURES             Location/Qualifiers
     source          1..2128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..2128
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /note="tRNA methyltransferase 1"
                     /db_xref="GeneID:55621"
                     /db_xref="HGNC:HGNC:25980"
                     /db_xref="MIM:611669"
     exon            1..88
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            89..374
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..2100
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /EC_number="2.1.1.216"
                     /note="isoform 1 is encoded by transcript variant 2;
                     N(2),N(2)-dimethylguanosine tRNA methyltransferase;
                     tRNA(guanine-26,N(2)-N(2)) methyltransferase; tRNA
                     2,2-dimethylguanosine-26 methyltransferase; tRNA
                     methyltransferase 1 homolog;
                     tRNA(m(2,2)G26)dimethyltransferase; tRNA
                     (guanine(26)-N(2))-dimethyltransferase; TRM1 tRNA
                     methyltransferase 1 homolog"
                     /codon_start=1
                     /product="tRNA (guanine(26)-N(2))-dimethyltransferase
                     isoform 1"
                     /protein_id="NP_001129507.1"
                     /db_xref="CCDS:CCDS12293.1"
                     /db_xref="GeneID:55621"
                     /db_xref="HGNC:HGNC:25980"
                     /db_xref="MIM:611669"
                     /translation="MQGSSLWLSLTFRSARVLSRARFFEWQSPGLPNTAAMENGTGPY
                     GEERPREVQETTVTEGAAKIAFPSANEVFYNPVQEFNRDLTCAVITEFARIQLGAKGI
                     QIKVPGEKDTQKVVVDLSEQEEEKVELKESENLASGDQPRTAAVGEICEEGLHVLEGL
                     AASGLRSIRFALEVPGLRSVVANDASTRAVDLIRRNVQLNDVAHLVQPSQADARMLMY
                     QHQRVSERFDVIDLDPYGSPATFLDAAVQAVSEGGLLCVTCTDMAVLAGNSGETCYSK
                     YGAMALKSRACHEMALRIVLHSLDLRANCYQRFVVPLLSISADFYVRVFVRVFTGQAK
                     VKASASKQALVFQCVGCGAFHLQRLGKASGVPSGRAKFSAACGPPVTPECEHCGQRHQ
                     LGGPMWAEPIHDLDFVGRVLEAVSANPGRFHTSERIRGVLSVITEELPDVPLYYTLDQ
                     LSSTIHCNTPSLLQLRSALLHADFRVSLSHACKNAVKTDAPASALWDIMRCWEKECPV
                     KRERLSETSPAFRILSVEPRLQANFTIREDANPSSRQRGLKRFQANPEANWGPRPRAR
                     PGGKAADEAMEERRRLLQNKRKEPPEDVAQRAARLKTFPCKRFKEGTCQRGDQCCYSH
                     SPPTPRVSADAAPDCPETSNQTPPGPGAAAGPGID"
     exon            375..430
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            431..573
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            574..761
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            762..877
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            878..990
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1139
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1226
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1296
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1431
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1517
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..1626
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1627..1703
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1704..1823
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1953
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1954..2128
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2104..2109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /note="hexamer: AATAAA"
     polyA_site      2128
                     /gene="TRMT1"
                     /gene_synonym="MRT68; TRM1"
                     /note="major polyA site"
ORIGIN      
        1 acccactgtg ccaacatggc ggcgcccagg tcctaattcg ggaaacgtgc accttgacta
       61 attcggtttt ctgtggctac gagagcaggc ttggcgggcg gaggcgccag cggatgtctc
      121 atgcaaggat cgtctctgtg gctaagcctc actttccgct ccgcccgggt gctctctaga
      181 gcccggtttt tcgagtggca gtctccaggg ctgccgaata cagcagcgat ggagaacggc
      241 accgggccct acggagaaga acgtccacgt gaagtccagg agacgacagt caccgagggg
      301 gctgccaaaa tcgcctttcc cagtgccaac gaggtctttt ataacccggt gcaggaattc
      361 aatcgggacc tgacatgtgc tgtgatcacc gagtttgctc gcattcagct tggggccaaa
      421 ggaatccaga tcaaggttcc aggagagaag gacacgcaaa aagtggtcgt ggacttgtca
      481 gagcaagagg aggaaaaggt tgaactgaaa gagagtgaaa acctggcctc aggagaccaa
      541 cctcgcacag cggccgtggg ggagatctgt gaggaaggcc tgcatgtgct ggaaggcctg
      601 gcagcttcag gcctacgttc cattcgattt gccctagagg tgcctgggct cagatctgtg
      661 gttgcaaacg atgcctccac ccgggctgtg gatctcatac gccggaatgt ccagctcaat
      721 gacgtggccc acctggtaca gccgagccaa gcagatgccc ggatgctgat gtaccagcac
      781 cagagggtgt cggagaggtt tgacgtcatc gatctggacc cctatggcag cccagccacc
      841 ttcctggatg cagctgtgca ggctgtgagt gaaggagggt tgctgtgtgt gacctgcaca
      901 gacatggcgg tgttggcggg gaacagcggg gagacgtgct acagcaagta cggggccatg
      961 gccctcaaga gccgggcctg ccacgagatg gccctgagaa tcgtcctgca cagcctggac
     1021 ctccgcgcca actgctacca gcgcttcgtg gtgccgctgc tcagcatcag cgctgacttc
     1081 tacgtgcgtg tttttgtccg tgtcttcacc ggccaggcca aggtcaaggc ctcagccagc
     1141 aagcaggcgc tggtgttcca gtgtgtgggc tgcggggcct tccaccttca gcgtctcggc
     1201 aaagcgtcag gagtccccag cggccgggcc aagttctctg cagcctgtgg tccccctgtg
     1261 acccccgagt gtgaacactg tgggcaacga caccagcttg gtggccccat gtgggcagag
     1321 cccatccatg acctggattt tgtgggccgt gtcctggagg ctgtgagcgc taaccccggc
     1381 cgcttccaca cctcggagcg gatccgaggg gtcctgagcg tcatcactga ggagctcccg
     1441 gacgtgcctc tgtactacac cctggaccag ctgagcagca ccatccactg caacacacca
     1501 agcctcctgc agttgcggtc ggccctcctc cacgctgact tccgggtctc actctcccac
     1561 gcctgtaaga acgctgtgaa gacggatgcc cctgcctctg ccctctggga catcatgcgt
     1621 tgctgggaga aggaatgtcc ggtgaaacgg gagcgactat cagagactag cccagcgttc
     1681 cgcattctca gtgtggagcc caggctgcag gccaacttca ccatccggga agatgccaac
     1741 cccagctccc gacagcgagg actcaagcgc ttccaggcta acccggaggc caactggggt
     1801 ccccggcctc gtgcccggcc agggggcaag gcggccgacg aagctatgga ggagagacgc
     1861 aggctgcttc agaacaagcg gaaggagccg ccggaagatg tggcccagcg ggctgcccgg
     1921 ctcaagacat ttccttgcaa gaggtttaag gagggcacct gtcaacgcgg ggaccagtgc
     1981 tgctactccc acagcccccc gacacccagg gtttctgctg atgctgcccc tgactgtcca
     2041 gagacctcca accagacccc ccctggacct ggggctgccg ctgggccagg catagactga
     2101 accaataaag agatgtcacg tcaccttc
//
