2024-04-19 23:23:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_017956 2232 bp mRNA linear PRI 11-NOV-2012 DEFINITION Homo sapiens tRNA methyltransferase 12 homolog (S. cerevisiae) (TRMT12), mRNA. ACCESSION NM_017956 VERSION NM_017956.3 GI:157388918 KEYWORDS RefSeq. 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 2232) AUTHORS Rodriguez,V., Chen,Y., Elkahloun,A., Dutra,A., Pak,E. and Chandrasekharappa,S. TITLE Chromosome 8 BAC array comparative genomic hybridization and expression analysis identify amplification and overexpression of TRMT12 in breast cancer JOURNAL Genes Chromosomes Cancer 46 (7), 694-707 (2007) PUBMED 17440925 REMARK GeneRIF: analysis by RT-qPCR using RNA from 30 breast tumors showed TRMT12 was overexpressed >2 fold in 87% of the tumors. TRMT12 is a homologue of a yeast gene encoding a tRNA methyltransferase involved in the posttranscriptional modification of tRNA(Phe) REFERENCE 2 (bases 1 to 2232) AUTHORS Noma,A. and Suzuki,T. TITLE Ribonucleome analysis identified enzyme genes responsible for wybutosine synthesis JOURNAL Nucleic Acids Symp Ser (Oxf) 50, 65-66 (2006) PUBMED 17150819 REFERENCE 3 (bases 1 to 2232) AUTHORS Kalhor,H.R., Penjwini,M. and Clarke,S. TITLE A novel methyltransferase required for the formation of the hypermodified nucleoside wybutosine in eucaryotic tRNA JOURNAL Biochem. Biophys. Res. Commun. 334 (2), 433-440 (2005) PUBMED 16005430 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BP342608.1, AK222727.1 and AA608716.1. On Sep 20, 2007 this sequence version replaced gi:142370855. Summary: Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]. COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-50 BP342608.1 1-50 51-2029 AK222727.1 39-2017 2030-2232 AA608716.1 1-203 c FEATURES Location/Qualifiers source 1..2232 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8q24.13" gene 1..2232 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /note="tRNA methyltransferase 12 homolog (S. cerevisiae)" /db_xref="GeneID:55039" /db_xref="HGNC:26091" /db_xref="MIM:611244" exon 1..2220 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /inference="alignment:Splign:1.39.8" variation 30 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:139807028" variation 36 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:3812473" variation 37 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:190418131" variation 43 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:77055381" variation 51 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:3812474" misc_feature 59..61 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /note="upstream in-frame stop codon" variation 70 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:376989869" variation 74 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:201870760" variation 83 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:200524864" variation 91 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:377389381" variation 102 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:377302398" CDS 122..1468 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /note="homolog of yeast tRNA methyltransferase; tRNA-yW synthesizing protein 2; tRNA-yW-synthesizing protein 2; alpha-amino-alpha-carboxypropyl transferase TYW2; tRNA methyltranferase 12 homolog" /codon_start=1 /product="tRNA wybutosine-synthesizing protein 2 homolog" /protein_id="NP_060426.2" /db_xref="GI:157388919" /db_xref="CCDS:CCDS6349.1" /db_xref="GeneID:55039" /db_xref="HGNC:26091" /db_xref="MIM:611244" /translation="
MRENVVVSNMERESGKPVAVVAVVTEPWFTQRYREYLQRQKLFDTQHRVEKMPDGSVALPVLGETLPEQHLQELRNRVAPGSPCMLTQLPDPVPSKRAQGCSPAQKLCLEVSRWVEGRGVKWSAELEADLPRSWQRHGNLLLLSEDCFQAKQWKNLGPELWETVALALGVQRLAKRGRVSPDGTRTPAVTLLLGDHGWVEHVDNGIRYKFDVTQCMFSFGNITEKLRVASLSCAGEVLVDLYAGIGYFTLPFLVHAGAAFVHACEWNPHAVVALRNNLEINGVADRCQIHFGDNRKLKLSNIADRVILGLIPSSEEGWPIACQVLRQDAGGILHIHQNVESFPGKNLQALGVSKVEKEHWLYPQQITTNQWKNGATRDSRGKMLSPATKPEWQRWAESAETRIATLLQQVHGKPWKTQILHIQPVKSYAPHVDHIVLDLECCPCPSVG
" misc_feature 212..1198 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /note="Predicted methyltransferase [General function prediction only]; Region: COG2520" /db_xref="CDD:32590" misc_feature 833..1129 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /note="S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy); Region: AdoMet_MTases; cd02440" /db_xref="CDD:100107" misc_feature order(842..862,914..919,995..1003) /gene="TRMT12" /gene_synonym="TRM12; TYW2" /note="S-adenosylmethionine binding site [chemical binding]; other site" /db_xref="CDD:100107" misc_feature 998..1003 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q53H54.1); Region: S-adenosyl-L-methionine binding (By similarity)" variation 164 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:150835991" variation 172 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:139253258" variation 173 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:149678009" variation 180 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:78376625" variation 186 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:201957009" variation 196 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:377493496" variation 203 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:3812475" variation 221 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:369340865" variation 225 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:373565254" variation 226 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="c" /db_xref="dbSNP:376700689" variation 258 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:371321546" variation 353 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:139731837" variation 361 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:145257018" variation 381 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:61752958" variation 388 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:61737278" variation 411 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:111369177" variation 467 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:191079391" variation 470 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:374523589" variation 471 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:62527879" variation 497 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:11556913" variation 503 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:61737279" variation 516 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:376436958" variation 528 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:370016759" variation 534 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:201957281" variation 623 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:150287896" variation 692 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:145417897" variation 716 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:200873075" variation 744 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:187558779" variation 811 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:199844898" variation 890 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:148858836" variation 923 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="c" /db_xref="dbSNP:138956356" variation 927 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:373767717" variation 937 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:142387012" variation 963 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:372554468" variation 981 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:377165981" variation 982 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:200399722" variation 994 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:374124335" variation 1025 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="c" /db_xref="dbSNP:143712338" variation 1061 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:61737280" variation 1077 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:371508861" variation 1082 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="g" /replace="t" /db_xref="dbSNP:148103498" variation 1109 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:375020634" variation 1147 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:201740083" variation 1166 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:141848585" variation 1167 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="c" /db_xref="dbSNP:369248072" variation 1169 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="g" /db_xref="dbSNP:200766829" variation 1186 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:117721741" variation 1220 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:367961371" variation 1264 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:150607772" variation 1330 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:201964398" variation 1360 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:75846731" variation 1405 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:200537006" variation 1490 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:199748512" variation 1504 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="c" /db_xref="dbSNP:192804139" variation 1620 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:183778914" variation 1758 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="" /replace="t" /db_xref="dbSNP:147918957" variation 1774 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:141811667" variation 1775 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:188024788" variation 1812 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:371425502" variation 1819 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:147117253" STS 1873..2014 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /standard_name="D8S1919" /db_xref="UniSTS:33036" variation 1923 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:75192605" variation 1995 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:192565844" polyA_signal 2030..2035 /gene="TRMT12" /gene_synonym="TRM12; TYW2" polyA_site 2049 /gene="TRMT12" /gene_synonym="TRM12; TYW2" variation 2148 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="c" /replace="t" /db_xref="dbSNP:75831497" variation 2156 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="t" /db_xref="dbSNP:11986208" variation 2217 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="a" /replace="g" /db_xref="dbSNP:201585912" variation 2217 /gene="TRMT12" /gene_synonym="TRM12; TYW2" /replace="" /replace="g" /db_xref="dbSNP:139659683" polyA_site 2220 /gene="TRMT12" /gene_synonym="TRM12; TYW2" ORIGIN
ctctttgcacgtcatttccggcaccggcatggccgggtgagctgcaggctaccttatttaagaccgggaatttagtcagcctggtgagccgactctgaggagatggagtatcgctgaggtgatgagagagaatgtggttgttagcaacatggagagagaaagtgggaagcccgtggctgttgtcgcagttgtgactgagccttggtttacccagcgatacagagaatatctccagaggcagaaactctttgatacacagcaccgtgtggaaaagatgccggatggctcggtggcgctaccggtgctgggagagacgcttccagagcagcacctgcaggagctgaggaatcgtgttgccccaggcagtccctgtatgctcacgcagctcccggatcctgttccttcgaagagggcccagggttgttcacctgcccaaaaattgtgtcttgaggtgagtcgctgggtggagggtcggggagtcaagtggtcagccgagttggaggctgatttgccccgatcatggcaacggcatggtaatctcttgttgctgagtgaagactgtttccaagccaagcagtggaaaaatctgggaccggaactctgggagaccgttgccttggcacttggcgtccagcgtttggcaaaacgagggcgggtatcaccggatggtactcgaactccagcagtgacactgctgctgggtgaccatggctgggtagagcatgtggataatggtatccgttataagtttgacgtgacccagtgtatgttctcctttggaaacatcactgagaagcttcgagtggcatcgttgtcctgtgctggagaagtgctggtggatctctatgcagggattggttattttacattgcctttcctagttcatgctggtgctgccttcgtccatgcttgtgagtggaatccccatgctgtagttgctctgagaaataaccttgagatcaatggagtagcagatcggtgccaaatacactttggagataacagaaaactgaagctctcaaatattgcagatagggtgatcctggggctgattcccagctctgaagaaggctggcccattgcctgccaagtgttaaggcaggatgctggaggcattttgcatatccaccaaaatgtggaatctttcccagggaagaatcttcaggctcttggagtcagcaaagtagagaaagagcattggctgtatcctcagcaaattaccaccaaccaatggaaaaatggagctaccagggattctaggggaaaaatgctgtcaccagccaccaagccagagtggcaaaggtgggcagaatctgcagaaactcgaatcgccactcttcttcagcaggtgcatgggaaaccatggaagacacaaattctgcacatccaaccagtgaaatcctatgctccccatgtggatcacatagtcctggatctggaatgctgcccctgtccttcagttggctagaggaggtagatcctgggacacatgggatccacgtgcgagtggcccttaaatgtatcagttcagtccaggttgtcatcccttttgtcccctggtgatcagtttttttcatattttatagccctgaaagcaggctctagatcaattcaaattatttcatttgtctttcattgataacagaaaatgaaatacctgtttgggagaagcagcatggcccattgaaatgaggctcatctgtgcaattatgaattccaaattctgacctcagttctggaattgaagtttcagtatgttttggcctcgggtttcgttatttgcaaaatgagagtttctttgaactgtctcacgtgactattaagcaactatacacaggacatcggttattttagagtgaaagacacagtgctttttccaaattgctctggctaccatatagaaaattgactgaaggagggccaagatggaaacagagagaccagtgaggaggcttctgtggttgtccaggtctgaggtgatggtaacttggactcggatggtggtaatgggaggtagattgatatgataaataaaattgacagaccaagcaatggaatcagaattaagtccttaacatgaagctgctttgttattatgactgactaaattagagagagaagggaacaaaaattattttagtgtatttccattcccttactgtggcattcctaaatgattgtgaggggttgtcttataaatttggtttgttgtggtagaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:55039 -> Molecular function: GO:0008168 [methyltransferase activity] evidence: IEA GeneID:55039 -> Biological process: GO:0008033 [tRNA processing] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_060426 -> EC 2.1.1.-
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@meso_cacase at
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