LOCUS       NM_152544               2874 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens tRNA methyltransferase 44 homolog (TRMT44), transcript
            variant 2, mRNA.
ACCESSION   NM_152544
VERSION     NM_152544.3
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 2874)
  AUTHORS   Wade,R., Di Bernardo,M.C., Richards,S., Rossi,D.,
            Crowther-Swanepoel,D., Gaidano,G., Oscier,D.G., Catovsky,D. and
            Houlston,R.S.
  TITLE     Association between single nucleotide polymorphism-genotype and
            outcome of patients with chronic lymphocytic leukemia in a
            randomized chemotherapy trial
  JOURNAL   Haematologica 96 (10), 1496-1503 (2011)
   PUBMED   21659360
REFERENCE   2  (bases 1 to 2874)
  AUTHORS   Leschziner,G.D., Coffey,A.J., Andrew,T., Gregorio,S.P.,
            Dias-Neto,E., Calafato,M., Bentley,D.R., Kinton,L., Sander,J.W. and
            Johnson,M.R.
  TITLE     Q8IYL2 is a candidate gene for the familial epilepsy syndrome of
            Partial Epilepsy with Pericentral Spikes (PEPS)
  JOURNAL   Epilepsy Res 96 (1-2), 109-115 (2011)
   PUBMED   21658913
  REMARK    GeneRIF: This study postulated that Q8IYL2 is a causative gene for
            PEPS , after exhaustive resequencing and bioinformatic analysis.
REFERENCE   3  (bases 1 to 2874)
  AUTHORS   Knizewski,L. and Ginalski,K.
  TITLE     DUF1613 is a novel family of eucaryotic AdoMet-dependent
            methyltransferases
  JOURNAL   Cell Cycle 5 (14), 1580-1582 (2006)
   PUBMED   16861910
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104825.4, CB991944.1,
            AC105345.3 and CA450523.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152544.2.
            
            Summary: The protein encoded by this gene is a putative tRNA
            methyltransferase found in the cytoplasm. Defects in this gene may
            be a cause of partial epilepsy with pericentral spikes (PEPS), but
            that has not been proven definitively. [provided by RefSeq, May
            2012].
            
            Transcript Variant: This variant (2) encodes the longer isoform
            (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.73682.1,
                                           SRR1660803.74235.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389737.5/ ENSP00000374387.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                AC104825.4         121330-121357
            29-545              CB991944.1         28-544
            546-665             AC104825.4         121875-121994
            666-780             AC104825.4         127029-127143
            781-1000            AC104825.4         130222-130441
            1001-1069           AC105345.3         144-212
            1070-1177           AC105345.3         1066-1173
            1178-1249           AC105345.3         2926-2997
            1250-1356           AC105345.3         12169-12275
            1357-1540           AC105345.3         13562-13745
            1541-1973           AC105345.3         16098-16530
            1974-2090           AC105345.3         19268-19384
            2091-2845           AC105345.3         23956-24710
            2846-2874           CA450523.1         18-46               c
FEATURES             Location/Qualifiers
     source          1..2874
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..2874
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /note="tRNA methyltransferase 44 homolog"
                     /db_xref="GeneID:152992"
                     /db_xref="HGNC:HGNC:26653"
                     /db_xref="MIM:614309"
     exon            1..665
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..2320
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /EC_number="2.1.1.211"
                     /note="isoform 2 is encoded by transcript variant 2;
                     probable tRNA (uracil-O(2)-)-methyltransferase;
                     methyltransferase-like protein 19; methyltransferase like
                     19"
                     /codon_start=1
                     /product="probable tRNA (uracil-O(2)-)-methyltransferase
                     isoform 2"
                     /protein_id="NP_689757.2"
                     /db_xref="CCDS:CCDS3402.2"
                     /db_xref="GeneID:152992"
                     /db_xref="HGNC:HGNC:26653"
                     /db_xref="MIM:614309"
                     /translation="MAEVGRTGISYPGALLPQGFWAAVEVWLERPQVANKRLCGARLE
                     ARWSAALPCAEARGPGTSAGSEQKERGPGPGQGSPGGGPGPRSLSGPEQGTACCELEE
                     AQGQCQQEEAQREAASVPLRDSGHPGHAEGREGDFPAADLDSLWEDFSQSLARGNSEL
                     LAFLTSSGAGSQPEAQRELDVVLRTVIPKTSPHCPLTTPRREIVVQDVLNGTITFLPL
                     EEDDEGNLKVKMSNVYQIQLSHSKEEWFISVLIFCPERWHSDGIVYPKPTWLGEELLA
                     KLAKWSVENKKSDFKSTLSLISIMKYSKAYQELKEKYKEMVKVWPEVTDPEKFVYEDV
                     AIAAYLLILWEEERAERRLTARQSFVDLGCGNGLLVHILSSEGHPGRGIDVRRRKIWD
                     MYGPQTQLEEDAITPNDKTLFPDVDWLIGNHSDELTPWIPVIAARSSYNCRFFVLPCC
                     FFDFIGRYSRRQSKKTQYREYLDFIKEVGFTCGFHVDEDCLRIPSTKRVCLVGKSRTY
                     PSSREASVDEKRTQYIKSRRGCPVSPPGWELSPSPRWVAAGSAGHCDGQQALDARVGC
                     VTRAWAAEHGAGPQAEGPWLPGFHPREKAERVRNCAALPRDFIDQVVLQVANLLLGGK
                     QLNTRSSRNGSLKTWNGGESLSLAEVANELDTETLRRLKRECGGLQTLLRNSHQVFQV
                     VNGRVHIRDWREETLWKTKQPEAKQRLLSEACKTRLCWFFMHHPDGCALSTDCCPFAH
                     GPAELRPPRTTPRKKIS"
     exon            666..780
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            781..1000
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1069
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1177
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1249
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1356
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1540
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1973
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            1974..2090
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     exon            2091..2874
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2850..2855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /note="hexamer: AATAAA"
     polyA_site      2874
                     /gene="TRMT44"
                     /gene_synonym="C4orf23; METTL19; TRM44"
                     /note="major polyA site"
ORIGIN      
        1 gtcatctcgg cgcgccgctg ccagggctgt acacctgctg gctgccatgg ctgaggtggg
       61 ccgtaccggg atcagctacc caggcgcgct tctcccacag ggcttctggg ctgcggtcga
      121 agtgtggctg gagaggccgc aggtggcaaa caaacggctt tgcggcgccc gcctggaggc
      181 ccgctggagc gccgccctgc cctgcgcgga ggcccgcggc cccgggacta gcgcaggctc
      241 ggagcagaag gagcggggtc cgggacccgg ccagggttcc cccggagggg gcccgggtcc
      301 caggtcgcta tcaggacccg agcagggcac ggcatgttgc gaacttgagg aggcccaggg
      361 ccagtgccag caagaggagg cacagaggga agccgcctca gtgcccctga gggactccgg
      421 gcaccccggc catgctgaag gaagggaggg cgacttcccc gccgcagatc tggattcgct
      481 ttgggaggat ttctcccaaa gtctcgcccg tggcaattcg gagttgctgg ccttcctcac
      541 cagctccggg gcgggatcgc agccagaggc gcagcgtgag ctcgacgtgg ttctcagaac
      601 cgtcatcccg aaaactagcc cacattgccc ccttacaact cccaggaggg aaatagtcgt
      661 gcaagatgtc ctcaatggaa ccataacgtt tttgcctttg gaagaagatg atgaggggaa
      721 cctaaaggtt aagatgagca atgtgtatca aattcagctc agtcatagca aagaagaatg
      781 gttcatatct gttttaattt tctgtccaga aagatggcat tcagatggaa tcgtgtatcc
      841 caaacccacg tggcttggag aagagttgct ggccaagttg gccaagtggt ctgtagagaa
      901 caagaagagt gactttaaaa gcaccctttc cctcatctcc attatgaagt atagcaaggc
      961 ttaccaggaa cttaaagaga agtataagga aatggttaag gtgtggcctg aagtcactga
     1021 tcctgagaag ttcgtgtatg aagatgtggc tatcgcagca tacctgctga ttctatggga
     1081 agaagaaagg gctgagagga gactaactgc caggcagtcc tttgtggacc tgggatgtgg
     1141 aaatggcctc ctggtccaca tcctgagcag tgaggggcat ccaggcagag ggattgatgt
     1201 ccgaagaaga aaaatctggg acatgtatgg accacaaact cagttagagg aagatgcaat
     1261 cacacccaat gataagaccc ttttccctga tgttgattgg ttaatcggta accattctga
     1321 tgaactcaca ccatggatac ctgtcattgc agccaggtct tcctacaatt gccgcttctt
     1381 tgtcctcccc tgctgcttct ttgacttcat tggaagatac tcccggaggc agagtaagaa
     1441 gactcagtac cgggaatacc ttgacttcat taaagaagtg ggcttcacct gtgggtttca
     1501 cgtggacgaa gactgcctca ggattccttc aaccaaaaga gtctgtctcg ttggaaaatc
     1561 cagaacatac ccttcctcca gagaagcttc cgtggatgaa aagaggactc agtacattaa
     1621 gagcaggcgg ggctgccctg taagcccacc tggctgggag ctttcccctt ctccacgctg
     1681 ggttgctgct ggcagtgctg gtcactgtga cggtcagcaa gctctggacg ccagggtcgg
     1741 gtgtgtaacc agggcctggg ccgctgagca tggagcaggg ccccaggctg aaggaccctg
     1801 gctacctgga tttcatccca gagaaaaggc tgagcgtgtg aggaactgtg ccgccctgcc
     1861 acgagatttt attgaccaag tggttttgca agtagcgaat ttactgttag gtggaaagca
     1921 attaaacaca agaagttctc gaaatgggag tttgaagacc tggaatgggg gagagagcct
     1981 atctctggca gaagtagcca acgagctgga cacggagacc ctgcggaggc tgaagcggga
     2041 gtgtgggggc ctgcagacgc tgctccggaa cagccaccag gtgttccaag ttgtgaatgg
     2101 gagagttcac atccgcgact ggcgagagga gacactgtgg aagacaaagc aaccggaagc
     2161 gaaacagaga ctgctctctg aagcctgcaa aacccgcctc tgctggttct tcatgcatca
     2221 ccctgatggc tgcgctctgt ccacggactg ctgcccgttt gcccatgggc ctgcggagct
     2281 gcggccaccc cggaccaccc cgaggaagaa gatttcatga gctgcatcct tgccagccga
     2341 ggcctggttg gggaggccaa accaaggaga gcttccccag cagtcgtcag tgctgtggtc
     2401 tctgctctgg ctgtgtttca gcccacctcc tcccagcttt ctccacatcc tcacagtgat
     2461 gaaccgtatt tcataaacat cacacgccag agaagccaca gttactcgga agcccccagc
     2521 tgactgcctg gcttgtttca gatgcagccg cttgaaacgt gcgcagcatc ttcatatcat
     2581 aaagattgtg cacggatcct tacaatgtct cctgggggag agcggctgag gctgccttgc
     2641 acaggccctt cccagggcgc tgtccgacgc ctgccccacc atgtccacat ctgtgaagag
     2701 gatggggctc ctcgagaagt aagaccgtat ctgccagcgt ttctcaccac actggagagc
     2761 agctgctctg gagcagggat ccaccagatt ggtattttta aaaaaggtgt caggcttgct
     2821 atgttgaggt tgtttttaga gttacagaga ataaaaacac tcataatttc ctga
//
