LOCUS       NM_020810               5304 bp    mRNA    linear   PRI 15-DEC-2024
DEFINITION  Homo sapiens tRNA methyltransferase 5 (TRMT5), transcript variant
            3, mRNA.
ACCESSION   NM_020810 XM_375085
VERSION     NM_020810.3
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 5304)
  AUTHORS   Argente-Escrig,H., Vilchez,J.J., Frasquet,M., Muelas,N., Azorin,I.,
            Vilchez,R., Millet-Sancho,E., Pitarch,I., Tomas-Vila,M.,
            Vazquez-Costa,J.F., Mas-Estelles,F., Marco-Marin,C., Espinos,C.,
            Serrano-Lorenzo,P., Martin,M.A., Lupo,V. and Sevilla,T.
  TITLE     A novel TRMT5 mutation causes a complex inherited neuropathy
            syndrome: The role of nerve pathology in defining a demyelinating
            neuropathy
  JOURNAL   Neuropathol Appl Neurobiol 48 (5), e12817 (2022)
   PUBMED   35342985
  REMARK    GeneRIF: A novel TRMT5 mutation causes a complex inherited
            neuropathy syndrome: The role of nerve pathology in defining a
            demyelinating neuropathy.
REFERENCE   2  (bases 1 to 5304)
  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   3  (bases 1 to 5304)
  AUTHORS   Powell,C.A., Kopajtich,R., D'Souza,A.R., Rorbach,J., Kremer,L.S.,
            Husain,R.A., Dallabona,C., Donnini,C., Alston,C.L., Griffin,H.,
            Pyle,A., Chinnery,P.F., Strom,T.M., Meitinger,T., Rodenburg,R.J.,
            Schottmann,G., Schuelke,M., Romain,N., Haller,R.G., Ferrero,I.,
            Haack,T.B., Taylor,R.W., Prokisch,H. and Minczuk,M.
  TITLE     TRMT5 Mutations Cause a Defect in Post-transcriptional Modification
            of Mitochondrial tRNA Associated with Multiple Respiratory-Chain
            Deficiencies
  JOURNAL   Am J Hum Genet 97 (2), 319-328 (2015)
   PUBMED   26189817
  REMARK    GeneRIF: TRMT5 mutations cause a defect in post-transcriptional
            modification of mitochondrial tRNA associated with multiple
            respiratory-chain deficiencies.
REFERENCE   4  (bases 1 to 5304)
  AUTHORS   Christian,T., Gamper,H. and Hou,Y.M.
  TITLE     Conservation of structure and mechanism by Trm5 enzymes
  JOURNAL   RNA 19 (9), 1192-1199 (2013)
   PUBMED   23887145
  REMARK    GeneRIF: Conservation of structure and mechanism by Trm5 enzymes
REFERENCE   5  (bases 1 to 5304)
  AUTHORS   Brule,H., Elliott,M., Redlak,M., Zehner,Z.E. and Holmes,W.M.
  TITLE     Isolation and characterization of the human tRNA-(N1G37)
            methyltransferase (TRM5) and comparison to the Escherichia coli
            TrmD protein
  JOURNAL   Biochemistry 43 (28), 9243-9255 (2004)
   PUBMED   15248782
  REMARK    GeneRIF: comparison of human TRM5 and E Coli TrmD activities,
            requirements for optimal activity, and tRNA methylation sites
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC370229.1, AK293158.1 and
            AL160236.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 16, 2014 this sequence version replaced NM_020810.2.
            
            Summary: tRNAs contain as many as 13 or 14 nucleotides that are
            modified posttranscriptionally by enzymes that are highly specific
            for particular nucleotides in the tRNA structure. TRMT5 methylates
            the N1 position of guanosine-37 (G37) in selected tRNAs using
            S-adenosyl methionine (Brule et al., 2004 [PubMed
            15248782]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (3) uses an alternate 5' terminal
            exon, resulting in a different 5' UTR and the use of an alternate
            start codon, compared to variant 1. The encoded isoform (3) has a
            distinct N-terminus, and is shorter, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.89308.1,
                                           SRR1803613.55764.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267758, SAMN03267770
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261249.7/ ENSP00000261249.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                DC370229.1         1-30
            31-1732             AK293158.1         1-1702
            1733-5304           AL160236.4         43930-47501
FEATURES             Location/Qualifiers
     source          1..5304
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     gene            1..5304
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /note="tRNA methyltransferase 5"
                     /db_xref="GeneID:57570"
                     /db_xref="HGNC:HGNC:23141"
                     /db_xref="MIM:611023"
     exon            1..117
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..1636
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /EC_number="2.1.1.228"
                     /note="isoform 3 is encoded by transcript variant 3;
                     tRNA-N1G37 methyltransferase; tRNA [GM37]
                     methyltransferase; M1G-methyltransferase; tRNA
                     (guanine-N(1)-)-methyltransferase; tRNA
                     (guanine(37)-N1)-methyltransferase; TRM5 tRNA
                     methyltransferase 5 homolog; tRNA
                     (guanine(37)-N(1))-methyltransferase"
                     /codon_start=1
                     /product="tRNA (guanine(37)-N(1))-methyltransferase
                     isoform 3"
                     /protein_id="NP_065861.3"
                     /db_xref="CCDS:CCDS32092.1"
                     /db_xref="GeneID:57570"
                     /db_xref="HGNC:HGNC:23141"
                     /db_xref="MIM:611023"
                     /translation="MVLWILWRPFGFSGRFLKLESHSITESKSLIPVAWTSLTQMLLE
                     APGIFLLGQRKRFSTMPETETHERETELFSPPSDVRGMTKLDRTAFKKTVNIPVLKVR
                     KEIVSKLMRSLKRAALQRPGIRRVIEDPEDKESRLIMLDPYKIFTHDSFEKAELSVLE
                     QLNVSPQISKYNLELTYEHFKSEEILRAVLPEGQDVTSGFSRIGHIAHLNLRDHQLPF
                     KHLIGQVMIDKNPGITSAVNKINNIDNMYRNFQMEVLSGEQNMMTKVRENNYTYEFDF
                     SKVYWNPRLSTEHSRITELLKPGDVLFDVFAGVGPFAIPVAKKNCTVFANDLNPESHK
                     WLLYNCKLNKVDQKVKVFNLDGKDFLQGPVKEELMQLLGLSKERKPSVHVVMNLPAKA
                     IEFLSAFKWLLDGQPCSSEFLPIVHCYSFSKDANPAEDVRQRAGAVLGISLEACSSVH
                     LVRNVAPNKEMLCITFQIPASVLYKNQTRNPENHEDPPLKRQRTAEAFSDEKTQIVSN
                     T"
     exon            118..773
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /inference="alignment:Splign:2.1.0"
     exon            774..898
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1550
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..5304
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1701..1706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /note="hexamer: AATAAA"
     polyA_site      1734
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /note="major polyA site"
     regulatory      2245..2250
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
                     /note="hexamer: CATAAA"
     polyA_site      2266
                     /gene="TRMT5"
                     /gene_synonym="COXPD26; KIAA1393; PNSED; TRM5"
ORIGIN      
        1 atagaagacc cgcccatcca cccgcgaccc acatccgatc ggtaccggag cgggaggtga
       61 ggggtcggct cgcggatcca gctgcagagc gacgtgggga attggaatgg tgctttggat
      121 cttatggagg ccatttggat tctcaggaag atttctgaaa ctggaaagcc atagcataac
      181 tgaatcaaaa tcgttgattc cagtagcttg gacatccctg acacagatgc ttttggaagc
      241 acctggtatt ttcttattgg gtcaaagaaa aagattctca accatgccag aaacagaaac
      301 acatgagaga gagactgaat tgttttcacc accttctgat gtccgaggca tgacaaaact
      361 tgatagaaca gcttttaaaa agacagtcaa cattccagtg cttaaagtga ggaaagaaat
      421 agtcagtaaa ttgatgcgat ccctaaaaag ggcagcattg cagcgcccag gcataagacg
      481 tgtgattgaa gatccggaag ataaagaaag tagactaatc atgttggatc cctataaaat
      541 atttactcat gattcctttg agaaagcaga actcagtgtt ttagagcagc ttaatgtcag
      601 tccacagatc tctaaataca atttggaact aacatatgaa cactttaagt cagaagaaat
      661 cttgagagct gtgcttcctg aaggtcaaga tgtaacttca gggtttagca ggattggaca
      721 tattgcacac ctaaaccttc gagatcatca gctgcctttc aaacatttaa ttggccaggt
      781 tatgattgac aaaaatccag gaatcacctc agcagtaaat aaaataaata atattgacaa
      841 tatgtaccga aatttccaaa tggaagtgct atctggagag cagaacatga tgacaaaggt
      901 tcgagaaaac aactacacct atgaatttga tttttcaaaa gtctattgga atcctcgtct
      961 gtctacagaa cacagccgta tcacagaact tctcaaacct ggggatgtcc tatttgatgt
     1021 ttttgctggg gttgggccct ttgccattcc agtagcaaag aaaaactgca ctgtatttgc
     1081 caatgatctc aatcctgaat ctcataaatg gctgttgtac aactgtaaat taaataaagt
     1141 ggaccaaaag gtgaaagtct tcaacttgga tgggaaagac ttcctccaag gaccagtcaa
     1201 agaagagtta atgcagctgc tgggtctgtc aaaagaaaga aaaccctctg tgcacgttgt
     1261 catgaacttg ccagcaaaag ctatagagtt tcttagtgct ttcaagtggc ttttagatgg
     1321 gcagccatgc agcagtgagt tccttcccat agtgcattgt tatagctttt ccaaagatgc
     1381 taaccctgct gaggatgttc ggcaaagggc tggagctgtg ttaggcattt ctctggaggc
     1441 atgcagttca gttcacctgg taagaaatgt ggccccaaac aaggaaatgc tgtgcatcac
     1501 gtttcagatt cctgcctctg tcctctacaa gaaccagacc agaaatccag agaatcatga
     1561 agatccacct cttaaaaggc agaggacggc tgaagccttt tcagacgaaa aaacacaaat
     1621 tgtttcaaac acttaattgg aaatgttttc tccatctccc taccagactt acatgtagtg
     1681 aaatagaatt tgtattattt aataaaattt tagggtttgg tttttactat tgaacccttg
     1741 tactttgcct tattttacaa attgaggatt accaattaaa ctttaactga actaaggcta
     1801 ccaaatacat tccctgttat ctaaattata acatacaatt attttataac aaaatatatc
     1861 taatttttat tggataaata tgaataaata ttttctctca gggaaaataa tttttgaaag
     1921 tagggtgatt gagtactaac taggaaggta ttaacaccac tttgtagttg tcctttacgt
     1981 aactactcct ttactgccaa ttaactatca ccataaaagt aataaaaaat gaaattattt
     2041 agaacggggc aggcaaacta catcctgcag gccaaatctg tcccaccacc tgttttcata
     2101 tggcctgtgg cctaataatg ttcttacgtt ttccattggt tgaaaaataa tcaaaagaac
     2161 attttgtgac gtgaaaattt tatgacatct attatgtatc agttttaaaa attagaattg
     2221 tatgaaatta agagtttcag agttcataaa gtttgattgg aacataccat gctcatttgt
     2281 ttacatatca tctgcagctg ttttttgttt ttaatatgga acgcttcacg aatttgcatg
     2341 tcatccttgc gcagggacca ttctgatctt ctctgtacca ttccagtttt ttagtatatg
     2401 tgctgctgaa gtgaggactg cagctgcttt cttgaacaat agcagagttg agtggttgca
     2461 acacacactg aatgtgactg tcatcacttc acactgctgt ttgacacatc acaaatcact
     2521 gatgtggttg taacgacagc attttgagtg ccatgtatat cacatgaacc cacattttat
     2581 tttttattac cagagcatat ctattatagc aaaacaagaa aagtggactt tgttgttatt
     2641 tttaaagtac agtagggtgt gaattatttt gatgttgaat tagacgacaa agcatctata
     2701 tagctaagct aaaagaataa ccattgacat taccagacaa accactcatc acagtattcc
     2761 caactcacag gcaagcaact gttagaaaaa ttagaaaatt taaaatggaa ataacaaagc
     2821 agaatttctt cacaaaatga aaatgaggct gcaacaacag taagtctcta agtcaatcat
     2881 ttgttagcca agcaaagcca tttattgatg gtgtgaatta attatgtttg gatgcagcag
     2941 ctgaatatat ccagagaaaa taaacttaag attactggcc tttggcaaga acagttgctt
     3001 aaagagttaa ggacattgaa agcgacataa atagtcactt taaaaaggaa atgattctgg
     3061 atggttcttt gactctattt ttatttttac ttagagacag ggtcttgctc tgttgcccag
     3121 gctggagtgt agagacacag ttacacctca atgtaacctt gaactcctag gcttgagatc
     3181 ttcccatctc ggcttcccaa tgtgtgaagg ttacaggtgt gagcccttat atgtggccct
     3241 cgtgaatggt ttagcactat ccccttggtg gtgtccttaa gataatgagt tatgagatct
     3301 tgttgtttca aagtatgtgg cactcgcccc ccacactctc ttgctcctgc cttcgccatg
     3361 tgaagtgcct tctcctattt tgccttctac catgagtaaa agcttcctga ggcttcccca
     3421 gaagcagatg ccagtgctat gcttcctata gcctggagaa ctgtgagcca attatacctc
     3481 ttttcttata aattacccag tatcaagtat ttctttatag caatgcaaga atggcctaaa
     3541 acacaaggca aaacaacttt gatatggtac agtcattttg acaatcgata tttgaatcac
     3601 aatatttgat gacaatatcc ttacacattt gtcatactat caaagagaaa gaaacaagat
     3661 ttccattccc acaaatttta gtgagtatat tttctgagtt cagcattttt agggacctag
     3721 gtgcaagtgc aaaggaaatt tccctgtttc aaaatctatt taactgcaat tgaggtgatt
     3781 caacctaatt ttcagtaaga agtgattaaa ataatgacat gctaaaaggc aaatttcaag
     3841 ggaagaaatg taaaagaatt ttacaaatgc tttccaagtg atgaatatgc tcagttaatt
     3901 tcatatgctc ctggattgat agcagtattt ggcaatacct atctgtatga gaagacattt
     3961 ttaaagatga aatgtgtaaa atcttattac cattagtatt aatggttaat gatggttaat
     4021 gataaccatt aataggcaat catttacaac tgattttgat cacagggaac acttacttag
     4081 aaccctgatt agaggcaatg ttattctcac caaaaaaggc attacaaaaa attgggctat
     4141 attttgaatt ttgtcaatta aaaaagcgtg ggagcagtgt gaaggagaag aggcaagaac
     4201 gacccctgga ccgaccaaag cccgcgcgct gctgcgtccc acacccggtg cccacatccc
     4261 gccgccgccg ccgccgccat gcccaagaga aagactgaag gggatgctaa aggagataaa
     4321 gccaaggtga aggatgaatc acagagaaga tctgcgaggt tgtctgctaa acctgctcct
     4381 ccaaagccag agcccaagcc taaaaaggcc cctgcaaaga agggagagaa ggtacccaaa
     4441 gggaaaaaga gaaaagctga tgctggcaag gagcgggaag gtgctggaga tcccaagtga
     4501 agtgtgtgca ttttttataa ctgtacttct ggtgactgta cagtttgaaa tattctttat
     4561 caagttttat aaaaatgcag aattttgttt tacttttttt aagctatgtt gttagcacac
     4621 agaacacttc attgttgttt ttgggggaag gggtatgtgt cactaataga atatctctga
     4681 agctggattg atacggggaa aacatctttc ccttctagtt ttgagagact tcctcttggc
     4741 tcccaggagg agggatttcc tgactttgac acacatggcc accttggcac aaaagccttg
     4801 tggtatggaa aaacaaattc gtttttatgt cttcttttcc ctttccatct ttcagcatag
     4861 acttaatccc cttaagccca gacatctgtt gggacctgac ccccggtcat tggttaccag
     4921 tgtgtctggc aatctggact ttccagtgat gccactgaga tggcacctgt caaaagagca
     4981 gtggttccat ttctagatta tggatcttcg gataaattct gccattttca tttcacttcc
     5041 tgaaagtcag ggttggcttg tgaaaagttg ttaaacaaca tgctaaatgt gaaatgttaa
     5101 ccctctaaac tttccctgtt cagagcatca gatgaggact tcattgggtt ttatagcggc
     5161 tgatttttgg tagtccattg aagaagagag tttgaaagtt gtatactgtt aatgactgtc
     5221 tgcccatgtc ctgcctgaaa taccatgatt gtttatggaa agtatcttta ataaagctgg
     5281 atacagtttg aaagaaaaaa aaaa
//
