LOCUS       NM_001134665            3547 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens tRNA methyltransferase 10A (TRMT10A), transcript
            variant 2, mRNA.
ACCESSION   NM_001134665
VERSION     NM_001134665.3
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 3547)
  AUTHORS   Tresky,R., Miyamoto,Y., Nagayoshi,Y., Yabuki,Y., Araki,K.,
            Takahashi,Y., Komohara,Y., Ge,H., Nishiguchi,K., Fukuda,T.,
            Kaneko,H., Maeda,N., Matsuura,J., Iwasaki,S., Sakakida,K.,
            Shioda,N., Wei,F.Y., Tomizawa,K. and Chujo,T.
  TITLE     TRMT10A dysfunction perturbs codon translation of initiator
            methionine and glutamine and impairs brain functions in mice
  JOURNAL   Nucleic Acids Res 52 (15), 9230-9246 (2024)
   PUBMED   38950903
  REMARK    GeneRIF: TRMT10A dysfunction perturbs codon translation of
            initiator methionine and glutamine and impairs brain functions in
            mice.
REFERENCE   2  (bases 1 to 3547)
  AUTHORS   Vilardo,E., Amman,F., Toth,U., Kotter,A., Helm,M. and Rossmanith,W.
  TITLE     Functional characterization of the human tRNA methyltransferases
            TRMT10A and TRMT10B
  JOURNAL   Nucleic Acids Res 48 (11), 6157-6169 (2020)
   PUBMED   32392304
  REMARK    GeneRIF: Functional characterization of the human tRNA
            methyltransferases TRMT10A and TRMT10B.
REFERENCE   3  (bases 1 to 3547)
  AUTHORS   Ontiveros,R.J., Shen,H., Stoute,J., Yanas,A., Cui,Y., Zhang,Y. and
            Liu,K.F.
  TITLE     Coordination of mRNA and tRNA methylations by TRMT10A
  JOURNAL   Proc Natl Acad Sci U S A 117 (14), 7782-7791 (2020)
   PUBMED   32213595
  REMARK    GeneRIF: transcripts with increased m(6)A upon TRMT10A ablation
            contain an overrepresentation of m(1)G9-containing tRNAs codons
            read by tRNA(Gln(TTG)), tRNA(Arg(CCG)), and tRNA(Thr(CGT)) These
            findings collectively reveal the presence of coordinated mRNA and
            tRNA methylations and demonstrate a mechanism for regulating gene
            expression through the interactions between mRNA and tRNA modifying
            enzymes.
REFERENCE   4  (bases 1 to 3547)
  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 3547)
  AUTHORS   Gillis,D., Krishnamohan,A., Yaacov,B., Shaag,A., Jackman,J.E. and
            Elpeleg,O.
  TITLE     TRMT10A dysfunction is associated with abnormalities in glucose
            homeostasis, short stature and microcephaly
  JOURNAL   J Med Genet 51 (9), 581-586 (2014)
   PUBMED   25053765
  REMARK    GeneRIF: TRMT10A dysfunction is associated with abnormalities in
            glucose homeostasis, short stature and microcephaly.
REFERENCE   6  (bases 1 to 3547)
  AUTHORS   Igoillo-Esteve,M., Genin,A., Lambert,N., Desir,J., Pirson,I.,
            Abdulkarim,B., Simonis,N., Drielsma,A., Marselli,L., Marchetti,P.,
            Vanderhaeghen,P., Eizirik,D.L., Wuyts,W., Julier,C., Chakera,A.J.,
            Ellard,S., Hattersley,A.T., Abramowicz,M. and Cnop,M.
  TITLE     tRNA methyltransferase homolog gene TRMT10A mutation in young onset
            diabetes and primary microcephaly in humans
  JOURNAL   PLoS Genet 9 (10), e1003888 (2013)
   PUBMED   24204302
  REMARK    GeneRIF: This is the first study describing the impact of TRMT10A
            deficiency in mammals, highlighting a role in the pathogenesis of
            microcephaly and early onset diabetes.
REFERENCE   7  (bases 1 to 3547)
  AUTHORS   Vilardo,E., Nachbagauer,C., Buzet,A., Taschner,A., Holzmann,J. and
            Rossmanith,W.
  TITLE     A subcomplex of human mitochondrial RNase P is a bifunctional
            methyltransferase--extensive moonlighting in mitochondrial tRNA
            biogenesis
  JOURNAL   Nucleic Acids Res 40 (22), 11583-11593 (2012)
   PUBMED   23042678
  REMARK    Erratum:[Nucleic Acids Res. 2018 Nov 16;46(20):11126-11127. doi:
            10.1093/nar/gky931.. PMID: 30295808]
REFERENCE   8  (bases 1 to 3547)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   9  (bases 1 to 3547)
  AUTHORS   Berg,M., Agesen,T.H., Thiis-Evensen,E., Merok,M.A., Teixeira,M.R.,
            Vatn,M.H., Nesbakken,A., Skotheim,R.I. and Lothe,R.A.
  CONSRTM   INFAC-study group
  TITLE     Distinct high resolution genome profiles of early onset and late
            onset colorectal cancer integrated with gene expression data
            identify candidate susceptibility loci
  JOURNAL   Mol Cancer 9, 100 (2010)
   PUBMED   20459617
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3547)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB455183.1, AK313548.1,
            BC028373.2, AC083902.5 and AW242551.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001134665.2.
            
            Summary: This gene encodes a protein that belongs to the tRNA
            (Guanine-1)-methyltransferase family. A similar gene in yeast
            modifies several different tRNA species. Mutations in this gene are
            associated with microcephaly, short stature, and impaired glucose
            metabolism. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Oct 2014].
            
            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 :: SRR1803617.11791.1,
                                           SRR1660805.37340.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394876.7/ ENSP00000378342.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DB455183.1         19-25
            8-1170              AK313548.1         1-1163
            1171-1457           BC028373.2         1334-1620
            1458-1459           AC083902.5         81447-81448         c
            1460-3531           BC028373.2         1621-3692
            3532-3547           AW242551.1         13-28               c
FEATURES             Location/Qualifiers
     source          1..3547
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..3547
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /note="tRNA methyltransferase 10A"
                     /db_xref="GeneID:93587"
                     /db_xref="HGNC:HGNC:28403"
                     /db_xref="MIM:616013"
     exon            1..127
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /inference="alignment:Splign:2.1.0"
     exon            128..335
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /inference="alignment:Splign:2.1.0"
     CDS             151..1170
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /EC_number="2.1.1.221"
                     /note="isoform 1 is encoded by transcript variant 2; RNA
                     (guanine-9-)-methyltransferase domain-containing protein
                     2; epididymis secretory protein Li 88; tRNA
                     methyltransferase 10 homolog A; tRNA
                     (guanine(9)-N(1))-methyltransferase TRMT10A"
                     /codon_start=1
                     /product="tRNA methyltransferase 10 homolog A isoform 1"
                     /protein_id="NP_001128137.1"
                     /db_xref="CCDS:CCDS3650.1"
                     /db_xref="GeneID:93587"
                     /db_xref="HGNC:HGNC:28403"
                     /db_xref="MIM:616013"
                     /translation="MSSEMLPAFIETSNVDKKQGINEDQEESQKPRLGEGCEPISKRQ
                     MKKLIKQKQWEEQRELRKQKRKEKRKRKKLERQCQMEPNSDGHDRKRVRRDVVHSTLR
                     LIIDCSFDHLMVLKDIKKLHKQIQRCYAENRRALHPVQFYLTSHGGQLKKNMDENDKG
                     WVNWKDIHIKPEHYSELIKKEDLIYLTSDSPNILKELDESKAYVIGGLVDHNHHKGLT
                     YKQASDYGINHAQLPLGNFVKMNSRKVLAVNHVFEIILEYLETRDWQEAFFTILPQRK
                     GAVPTDKACESASHDNQSVRMEEGGSDSDSSEEEYSRNELDSPHEEKQDKENHTESTV
                     NSLPH"
     exon            336..498
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /inference="alignment:Splign:2.1.0"
     exon            499..570
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /inference="alignment:Splign:2.1.0"
     exon            571..645
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /inference="alignment:Splign:2.1.0"
     exon            646..795
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /inference="alignment:Splign:2.1.0"
     exon            796..901
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /inference="alignment:Splign:2.1.0"
     exon            902..3547
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2096..2101
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /note="hexamer: AATACA"
     polyA_site      2116
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /note="major polyA site"
     regulatory      2695..2700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /note="hexamer: AGTAAA"
     polyA_site      2720
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /note="major polyA site"
     regulatory      3503..3508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /note="hexamer: AATAAA"
     regulatory      3530..3535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /note="hexamer: AATAAA"
     polyA_site      3531
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
     polyA_site      3547
                     /gene="TRMT10A"
                     /gene_synonym="HEL-S-88; MSSGM; MSSGM1; RG9MTD2; TRM10"
                     /note="major polyA site"
ORIGIN      
        1 actgcgtaac taccgcccct gcctctggga attgaagttt ctgtggaagg aagcgtgagc
       61 cgtaaccagg ccaacccaga aaggctttct ttctgagatt tcacttccct gtcaactctt
      121 cagctcgttg tttttcagag gcaccaaata atgtcatctg aaatgttgcc agcatttatt
      181 gaaacttcta atgttgacaa aaagcaaggc ataaatgaag atcaagagga gagccagaag
      241 ccaagattag gtgaagggtg tgaaccaata tctaaacgac aaatgaaaaa actaataaaa
      301 cagaaacaat gggaagagca acgggaactc cgcaaacaaa agcgaaaaga aaaacgcaag
      361 aggaaaaaat tagagcgaca atgtcaaatg gaaccaaact cagatggaca tgacagaaaa
      421 cgtgttcgaa gagatgttgt tcatagcacc cttcgcctta ttattgactg tagttttgat
      481 cacttgatgg tattaaagga cattaagaaa cttcataagc agattcaacg atgttacgca
      541 gaaaaccgac gggcactgca tcctgtgcag ttttacttga caagccacgg aggccagctg
      601 aaaaagaaca tggatgaaaa tgacaaagga tgggtcaact ggaaggatat ccatatcaaa
      661 ccagagcact atagtgaact cataaagaaa gaagacctga tttaccttac gtcagattca
      721 cctaatatac tgaaggaatt agatgaatca aaggcctatg tgattggagg attagtagat
      781 cacaaccatc acaagggact cacatataaa caagcgtcag attatggaat caatcatgca
      841 cagctcccac ttggaaattt tgtgaagatg aatagtcgaa aagttttggc agttaatcat
      901 gtgtttgaaa ttattctgga atacctggaa acaagagact ggcaagaagc attttttact
      961 atcttgcccc aacggaaagg agctgttccc acagacaaag cctgtgaaag tgcttctcat
     1021 gacaatcagt ctgtcaggat ggaggaaggt ggatcggaca gtgattccag tgaggaggaa
     1081 tatagcagaa atgaactaga ttcaccacat gaagaaaagc aggataagga aaatcacact
     1141 gaatctacag tgaactctct gccacactaa tgttacctgg tttcctttta gtttaaggaa
     1201 aaattaggag aaagtgaggt gctatataga atattgaaat tggaagaaca ttttattttc
     1261 tcttatttct gttgtgattt ttaaaaactt ttttttggac ctaaataata ataaaaaaaa
     1321 aagcccttta aactttgtaa ggaaatattt tttgattttg cgtaagaaga tttaaatgtg
     1381 tatgtgattt tttttgtttt tgtttttaaa gcctcagtag tttctagata attttactgt
     1441 attagtatat tttcattttc tttcatttta tattctttag aatgtgcctt ctgacctttc
     1501 agttttttaa ttttatagtc acatcaacat ctttatgatc tattgcctat atatctgtga
     1561 gggcacatat tcataaatat actgtcaatc tatcagcatt tgtgtatggt aggttaccct
     1621 ctatttgcag cttttatgtt taaattagtt acttgaaaga atgtagtaat tttaggaaga
     1681 agtatcagtt tgatagactt aataattcat ttcttttgga ctatggagcg catatctgtt
     1741 ccttctttat gatgcctttt tatggttctg aagtaattac tgaagagttg agaatctctt
     1801 taatgcattt tcttaattct tacaatggtg ataagttact tcaattataa aattgaattt
     1861 tgcagactaa attattttat aaggctgttg ctattgaaag atcaattttg tctttacctg
     1921 catttaaaat ggaacagctc ttagcagctg tggttttttt ttccatattt tttttaaatt
     1981 tgttggctct taagatgaat aaagtttata ggtgcatctg cctcctcttc tctaagaata
     2041 tgcatactaa tgtttgtttc tataaatcaa atacacatgt gataatatgc atgtaaatac
     2101 ataactatcc tcatcatgta tggctctcag ttcttaattg atgataacat gattgaattg
     2161 ccatatatct gtattacttg tgtgaatggt tgtgttgaac acgctaagaa caatttgaat
     2221 tttattaagt acaaaaatcc ttaacgtttg tatgggaaca ttggcaagaa agaatagtgt
     2281 gaaagggaac tgttttagtt tcctatcagt aattgtacat gcagttaaat gtttaaggta
     2341 aaatgattgg tctctgtcac agctaaaaga tttcagtagc cttcattgag tttgggtaaa
     2401 ataagttgct gttcttttgt cttcttttta atatataaaa gttatattta aaaagtatat
     2461 aacatactat atatgttaca tactaacata tatatacaca acagaaagtt tattggattt
     2521 agtactgata tttactgtct atttttgtta ctttgttctt agtaatctat tatagttacc
     2581 tattttaagg taaggtctgt aggcaagata tgtaagtaaa gacaagccct acaattttaa
     2641 aataacaaag cttatgtctt aagttgtatt ttttcaaagg ttcatgtttt tctgagtaaa
     2701 tgtggtttat tagcatgaaa tattatgcct tttacttaaa ttattttatg taaaataggg
     2761 cactgtttaa ttatgaaagg gggaaaatca ttccaaataa gagtttaatt tttattaatt
     2821 ataaaaaact ctgtattagt ttcctagatg tgctagaaca aattaccaca aactgggtgg
     2881 ctttaaacaa cagaaattta ttctcttaac agttccagag actaaatgtc cagactcaca
     2941 atgtcccagt gccatgcttc ctccttaggc cctaggaaag aatacttcct agcctcttcc
     3001 tggcttttgg tggttgccag caatccctgc tgttccttag cctatagtgg cttgactcca
     3061 atctcagttt tgttgtcaag tggtcttcta ccctgtcttc tatgtttgta tccgtgtcca
     3121 aactcttttt ctagggagac cagcactgga ttagagttca ccatgatcca atatgacctc
     3181 atcttgacta catccgcaaa gaccctgtct ccaaataagg tcacatttac agggtaccat
     3241 gtgttaggat ttgacatatc ttttggggga cacaattcta cccactacag gcccatatct
     3301 tatctaggat gttggtggca agaaggtgaa gattactacc tcttttgata taactagttt
     3361 ctgaggtatt taaaaatttg gttttaaaaa tattaagctt tttgctcatt tgcatgtata
     3421 cttttctctc aacattgttt tggtttattt aggttatttg ttaaaacttc agtaaatact
     3481 aaagttactt gtattagaac ataataaaag tagagaatta aactacctaa ataaatgcat
     3541 caaaaaa
//
