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2024-04-24 10:14:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033418 1487 bp mRNA linear PRI 17-JUN-2013
DEFINITION Homo sapiens methyltransferase like 18 (METTL18), mRNA.
ACCESSION NM_033418
VERSION NM_033418.2 GI:384551668
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 1487)
AUTHORS Cloutier,P., Lavallee-Adam,M., Faubert,D., Blanchette,M. and
Coulombe,B.
TITLE A newly uncovered group of distantly related lysine
methyltransferases preferentially interact with molecular
chaperones to regulate their activity
JOURNAL PLoS Genet. 9 (1), E1003210 (2013)
PUBMED 23349634
REFERENCE 2 (bases 1 to 1487)
AUTHORS Webb,K.J., Zurita-Lopez,C.I., Al-Hadid,Q., Laganowsky,A.,
Young,B.D., Lipson,R.S., Souda,P., Faull,K.F., Whitelegge,J.P. and
Clarke,S.G.
TITLE A novel 3-methylhistidine modification of yeast ribosomal protein
Rpl3 is dependent upon the YIL110W methyltransferase
JOURNAL J. Biol. Chem. 285 (48), 37598-37606 (2010)
PUBMED 20864530
REFERENCE 3 (bases 1 to 1487)
AUTHORS Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
TITLE Follow-up of a major linkage peak on chromosome 1 reveals
suggestive QTLs associated with essential hypertension: GenNet
study
JOURNAL Eur. J. Hum. Genet. 17 (12), 1650-1657 (2009)
PUBMED 19536175
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 1487)
AUTHORS Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
TITLE Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
genetic association with bone mineral density variation
JOURNAL Hum. Mol. Genet. 18 (4), 679-687 (2009)
PUBMED 19064610
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 1487)
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 VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL556604.3 and BC008679.1.
On Apr 19, 2012 this sequence version replaced gi:15553096.
##Evidence-Data-START##
Transcript exon combination :: AL035369.1, AK313909.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-816 AL556604.3 47-862
817-1487 BC008679.1 768-1438
FEATURES Location/Qualifiers
source 1..1487
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q24.2"
gene 1..1487
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/note="methyltransferase like 18"
/db_xref="GeneID:92342"
/db_xref="HGNC:28793"
/db_xref="HPRD:14713"
/db_xref="MIM:615255"
exon 1..106
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/inference="alignment:Splign:1.39.8"
exon 107..1475
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/inference="alignment:Splign:1.39.8"
misc_feature 282..284
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/note="upstream in-frame stop codon"
CDS 309..1427
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/note="arsenic-transactivated protein 2;
methyltransferase-like protein 18"
/codon_start=1
/product="histidine protein methyltransferase 1 homolog"
/protein_id="NP_219486.1"
/db_xref="GI:15553097"
/db_xref="CCDS:CCDS1284.1"
/db_xref="GeneID:92342"
/db_xref="HGNC:28793"
/db_xref="HPRD:14713"
/db_xref="MIM:615255"
/translation="
MTFQFNFTIEDHLENELTPIRDGALTLDSSKELSVSESQKGEERDRKCSAEQFDLPQDHLWEHKSMENAAPSQDTDSPLSAASSSRNLEPHGKQPSLRAAKEHAMPKDLKKMLENKVIETLPGFQHVKLSVVKTILLKENFPGENIVSKSFSSHSDLITGVYEGGLKIWECTFDLLAYFTKAKVKFAGKKVLDLGCGSGLLGITAFKGGSKEIHFQDYNSMVIDEVTLPNVVANSTLEDEENDVNEPDVKRCRKPKVTQLYKCRFFSGEWSEFCKLVLSSEKLFVKYDLILTSETIYNPDYYSNLHQTFLRLLSKNGRVLLASKAHYFGVGGGVHLFQKFVEERDVFKTRILKIIDEGLKRFIIEITFKFPG
"
misc_feature 522..524
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O95568.1); phosphorylation site"
misc_feature 522..524
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 537..539
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O95568.1); phosphorylation site"
misc_feature 768..1280
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/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;
cl16911"
/db_xref="CDD:213141"
variation 338
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/replace="a"
/replace="c"
/db_xref="dbSNP:10489177"
STS 916..1065
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/standard_name="AL009882"
/db_xref="UniSTS:71640"
STS 1213..1328
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/standard_name="A009Y28"
/db_xref="UniSTS:1162"
STS 1213..1328
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/standard_name="G32987"
/db_xref="UniSTS:117564"
variation 1296
/gene="METTL18"
/gene_synonym="AsTP2; C1orf156; HPM1; RP1-117P20.4"
/replace="g"
/replace="t"
/db_xref="dbSNP:1801567"
ORIGIN
gaggactcgactcactggtgcgcgatttaggtccggaggaggcgttgtgaggtgagctttttcagaagcgcgatcccaggacacgtcgggaagcaagcatccccagagctgcttggaaagaggaccaaagacgtctaaaaagtcatttggaaatatctctaaatatttgttaccatgtataagctgctaaagagaaattgggcccaacaaaactaattgaataattgaggcagatttgtgtgtatcatcaaattctatccagaagttgaagaatctgaatttaaagattgtgtgcatttaataagaggatgacctttcagtttaatttcactatagaagaccatctggaaaatgaattaacacccattagagatggagctttgaccctggattcctcaaaagagctgtcagtctcagaaagtcaaaaaggagaagagagggacagaaaatgttctgcagaacaatttgacttgcctcaggatcacttgtgggaacataagtcaatggaaaatgcagctccctctcaagacacagacagtccactcagtgcagccagcagttcaaggaacttggagccacatggaaaacagccctccttgagagctgccaaagagcatgctatgcctaaagatttaaagaagatgttagaaaataaagtcatagaaacattaccaggtttccagcatgttaagttatcagtagtgaaaaccatcttgttgaaagagaacttccctggagaaaacatagtttcaaaaagcttttcttctcactctgatctgattacaggtgtttatgagggaggcttaaaaatctgggaatgtacctttgacctcctggcttatttcacaaaggccaaagtgaaatttgctgggaaaaaagtcttggatcttggttgtggatcaggtttactaggtataactgcattcaagggagggtccaaagaaattcactttcaagattataacagtatggtgattgatgaagtaaccttacctaatgtagtagctaactccactttggaagatgaagaaaatgatgtaaatgagccagatgtgaaaagatgcaggaaaccaaaagtaacacaactatataaatgccgatttttttctggtgagtggtctgagttttgtaagcttgtactaagtagtgaaaaactttttgtaaaatatgatctcattctcacctcagaaaccatttacaacccagattattatagtaatttgcaccagactttccttagactgttaagtaaaaatggacgtgtacttttggccagcaaagcacattattttggtgtaggtggaggtgttcatctctttcagaagtttgtagaagaaagagatgtttttaagaccagaatactcaaaataattgatgaaggattgaagaggttcataattgaaataacttttaagtttcctggttaattaacattcactgagtatccaaaatgaaataaacagaaggaccaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:92342 -> Molecular function: GO:0008276 [protein methyltransferase activity] evidence: IEA
GeneID:92342 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
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