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2024-04-19 11:27:36, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020961 2138 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens methyltransferase like 14 (METTL14), mRNA.
ACCESSION NM_020961
VERSION NM_020961.2 GI:34147341
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 2138)
AUTHORS Kalsi,G., Kuo,P.H., Aliev,F., Alexander,J., McMichael,O.,
Patterson,D.G., Walsh,D., Zhao,Z., Schuckit,M., Nurnberger,J. Jr.,
Edenberg,H., Kramer,J., Hesselbrock,V., Tischfield,J.A.,
Vladimirov,V., Prescott,C.A., Dick,D.M., Kendler,K.S. and
Riley,B.P.
TITLE A systematic gene-based screen of chr4q22-q32 identifies
association of a novel susceptibility gene, DKK2, with the
quantitative trait of alcohol dependence symptom counts
JOURNAL Hum. Mol. Genet. 19 (12), 2497-2506 (2010)
PUBMED 20332099
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock,
Victor [added]; Tischfield, Jay A [added]]
REFERENCE 2 (bases 1 to 2138)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final
NCBI review. The reference sequence was derived from BC007449.2.
On Aug 25, 2003 this sequence version replaced gi:24308264.
##Evidence-Data-START##
Transcript exon combination :: BC006565.2, AB046847.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..2138
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q26"
gene 1..2138
/gene="METTL14"
/note="methyltransferase like 14"
/db_xref="GeneID:57721"
/db_xref="HGNC:29330"
/db_xref="HPRD:13879"
exon 1..182
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 4
/gene="METTL14"
/replace="c"
/replace="g"
/db_xref="dbSNP:17050450"
misc_feature 78..80
/gene="METTL14"
/note="upstream in-frame stop codon"
CDS 117..1487
/gene="METTL14"
/codon_start=1
/product="methyltransferase-like protein 14"
/protein_id="NP_066012.1"
/db_xref="GI:24308265"
/db_xref="CCDS:CCDS34053.1"
/db_xref="GeneID:57721"
/db_xref="HGNC:29330"
/db_xref="HPRD:13879"
/translation="
MDSRLQEIRERQKLRRQLLAQQLGAESADSIGAVLNSKDEQREIAETRETCRASYDTSAPNAKRKYLDEGETDEDKMEEYKDELEMQQDEENLPYEEEIYKDSSTFLKGTQSLNPHNDYCQHFVDTGHRPQNFIRDVGLADRFEEYPKLRELIRLKDELIAKSNTPPMYLQADIEAFDIRELTPKFDVILLEPPLEEYYRETGITANEKCWTWDDIMKLEIDEIAAPRSFIFLWCGSGEGLDLGRVCLRKWGYRRCEDICWIKTNKNNPGKTKTLDPKAVFQRTKEHCLMGIKGTVKRSTDGDFIHANVDIDLIITEEPEIGNIEKPVEIFHIIEHFCLGRRRLHLFGRDSTIRPGWLTVGPTLTNSNYNAETYASYFSAPNSYLTGCTEEIERLRPKSPPPKSKSDRGGGAPRGGGRGGTSAGRGRERNRSNFRGERGGFRGGRGGAHRGGFPPR
"
misc_feature 714..1205
/gene="METTL14"
/note="MT-A70; Region: MT-A70; pfam05063"
/db_xref="CDD:147310"
variation 125
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:150512311"
variation 161
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:369110196"
variation 182
/gene="METTL14"
/replace="c"
/replace="g"
/db_xref="dbSNP:200778002"
exon 183..271
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 201
/gene="METTL14"
/replace="g"
/replace="t"
/db_xref="dbSNP:200462174"
variation 215
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:145996004"
variation 264
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:377430180"
exon 272..359
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 282
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:138619764"
variation 287
/gene="METTL14"
/replace="c"
/replace="g"
/db_xref="dbSNP:141704350"
variation 307
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:201299266"
variation 329
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:376007435"
variation 353
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:62328061"
exon 360..440
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 403
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:376584637"
exon 441..528
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 467
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:140960694"
variation 500
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:112348803"
exon 529..619
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 613..614
/gene="METTL14"
/replace=""
/replace="c"
/db_xref="dbSNP:35492157"
exon 620..761
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 627
/gene="METTL14"
/replace="a"
/replace="c"
/db_xref="dbSNP:78906144"
variation 633
/gene="METTL14"
/replace="g"
/replace="t"
/db_xref="dbSNP:370370248"
variation 642
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:199640936"
exon 762..854
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 807
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:202013242"
exon 855..971
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
exon 972..1182
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 1012
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:202042363"
variation 1148
/gene="METTL14"
/replace="g"
/replace="t"
/db_xref="dbSNP:182378552"
variation 1172
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:112726268"
exon 1183..2120
/gene="METTL14"
/inference="alignment:Splign:1.39.8"
variation 1190
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:11931194"
variation 1194
/gene="METTL14"
/replace="c"
/replace="g"
/db_xref="dbSNP:148536412"
variation 1205
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:201977372"
variation 1388
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:142851794"
variation 1394
/gene="METTL14"
/replace="a"
/replace="t"
/db_xref="dbSNP:151041593"
variation 1410
/gene="METTL14"
/replace="a"
/replace="t"
/db_xref="dbSNP:141195013"
variation 1450
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:369731171"
variation 1463
/gene="METTL14"
/replace="c"
/replace="g"
/db_xref="dbSNP:369008787"
variation 1478
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:143516551"
variation 1522
/gene="METTL14"
/replace="a"
/replace="t"
/db_xref="dbSNP:370219944"
variation 1587
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:188561580"
variation 1657
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:114039398"
variation 1659
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:4834698"
variation 1701
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:138412059"
variation 1704
/gene="METTL14"
/replace="c"
/replace="t"
/db_xref="dbSNP:190648195"
variation 1774
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:141632546"
variation 2022
/gene="METTL14"
/replace="a"
/replace="t"
/db_xref="dbSNP:1064034"
variation 2120
/gene="METTL14"
/replace="a"
/replace="g"
/db_xref="dbSNP:76170672"
ORIGIN
atactctgttcgtaagctcccggtgaattttgttccacagactcggaagaaaggttggataagagttcactggagattgacaagtactcgggatagtgaaaagccggagttggaacatggatagccgcttgcaggagatccgggagcggcagaagttacggcgacagctcctcgcgcagcagttgggagctgaaagtgccgacagcattggtgccgtgttaaatagcaaagatgagcagagagaaattgctgaaacaagagaaacttgcagggcttcctatgatacctctgctccaaatgcaaaacgtaagtatctggatgaaggagagacagatgaagacaaaatggaagaatataaggatgaactagaaatgcaacaggatgaagaaaatttgccatatgaagaagagatttacaaagattctagtacttttcttaagggaacacagagcttaaatccccataatgattactgccaacattttgtagacactggacatagacctcagaatttcatcagggatgtaggtttagctgacagatttgaagaatatcctaaactgagggagctcatcaggctaaaggatgagttaatagctaaatctaacactcctcccatgtacttacaagccgatatagaagcctttgacatcagagaactaacacccaaatttgatgtgattcttctggaaccccctttagaagaatattacagagaaactggcatcactgctaatgaaaaatgctggacttgggatgatattatgaagttagaaattgatgagattgcagcacctcgatcatttatttttctctggtgtggttctggggaggggttggaccttggaagagtgtgtttacgaaaatggggttacagaagatgtgaagatatttgttggattaaaaccaataaaaacaatcctgggaagactaagactttagatccaaaggctgtctttcagagaacaaaggaacactgcctcatggggatcaaaggaactgtgaagcgtagcacagacggggacttcattcatgctaatgttgacattgacttaattatcacagaagaacctgaaattggcaatatagaaaaacctgtagaaatttttcatataattgagcatttttgtcttggtagaagacgccttcatctatttggaagagatagtacaattcgaccaggctggctcacagttggaccaacgcttacaaatagcaactacaatgcagaaacatatgcatcctatttcagtgctcctaattcctacttgactggttgtacagaagaaattgagagacttcgaccaaaatcgcctcctcccaaatctaaatctgaccgaggaggtggagctcccagaggtggaggaagaggtggaacttctgctggccgtggacgagaaagaaatagatctaacttccgaggagaaagaggtggctttagagggggccgtggaggagcacacagaggtggctttccacctcgataattgttgaagacattgaacctattcatcctcctctaaccttctttattgtaattaaatttcaagtgggagacttaactttagaactcacttccagcttgcactttgctttaatttctctgagctgcaagaatgtcttagcgagccttgcttgcagttgtcacacacactgtccggtttttttcaggataaatgaatgattctgccttttgttatgtgcgtgaacagaatggaacaactcaagtagcttcatcttcagagactgaatttattctgatagacttcagctaattacaaaggattttgctaatttttgggaataaataatggaaaaagatccagtctgtggtatcatgctagtgctgacagggccttgatagaatagagttggaaaagatggtaagcttttgtcagggttttaacattttcttgatgaaacaataaaaagaggtaagcttttttcttctttttttttaagttttaaataaactcagatataatttgaatactgaagaaattaagagactttgaacaaaatctcttcccaaatctaaatttgataggggaggtggagattccaggggtgggtgaaagaagagatagaacttagcaggcagacttaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:57721 -> Molecular function: GO:0016422 [mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity] evidence: ISS
GeneID:57721 -> Biological process: GO:0001510 [RNA methylation] evidence: ISS
GeneID:57721 -> Cellular component: GO:0005634 [nucleus] evidence: ISS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_066012 -> EC 2.1.1.-
by
@meso_cacase at
DBCLS
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