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2024-04-19 05:13:53, 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
//
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.-
by
@meso_cacase at
DBCLS
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