LOCUS       NM_212554               3599 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens EEF1A lysine methyltransferase 2 (EEF1AKMT2),
            transcript variant 1, mRNA.
ACCESSION   NM_212554
VERSION     NM_212554.4
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 3599)
  AUTHORS   Shimazu,T., Barjau,J., Sohtome,Y., Sodeoka,M. and Shinkai,Y.
  TITLE     Selenium-based S-adenosylmethionine analog reveals the mammalian
            seven-beta-strand methyltransferase METTL10 to be an EF1A1 lysine
            methyltransferase
  JOURNAL   PLoS One 9 (8), e105394 (2014)
   PUBMED   25144183
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3599)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 3599)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY048148.1, BC026167.1, AL832292.1, AK022354.1, AC068896.9 and
            AA776892.1.
            
            On Nov 23, 2018 this sequence version replaced NM_212554.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC026167.1, SRR1803615.272093.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467150 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368836.7/ ENSP00000357829.2
            RefSeq Select criteria :: based on longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                HY048148.1         56-72
            18-614              BC026167.1         6-602
            615-617             AL832292.1         570-572
            618-1479            BC026167.1         607-1468
            1480-2456           AK022354.1         985-1961
            2457-2457           AC068896.9         65976-65976         c
            2458-3409           AK022354.1         1963-2914
            3410-3599           AA776892.1         31-220              c
FEATURES             Location/Qualifiers
     source          1..3599
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..3599
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /note="EEF1A lysine methyltransferase 2"
                     /db_xref="GeneID:399818"
                     /db_xref="HGNC:HGNC:33787"
                     /db_xref="MIM:617794"
     exon            1..164
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..930
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     methyltransferase-like protein 10; protein-lysine
                     N-methyltransferase METTL10; methyltransferase like 10;
                     eukaryotic translation elongation factor 1 alpha lysine
                     methyltransferase 2"
                     /codon_start=1
                     /product="EEF1A lysine methyltransferase 2 isoform 1"
                     /protein_id="NP_997719.2"
                     /db_xref="CCDS:CCDS31307.1"
                     /db_xref="GeneID:399818"
                     /db_xref="HGNC:HGNC:33787"
                     /db_xref="MIM:617794"
                     /translation="MSSGADGGGGAAVAARSDKGSPGEDGFVPSALGTREHWDAVYER
                     ELQTFREYGDTGEIWFGEESMNRLIRWMQKHKIPLDASVLDIGTGNGVFLVELAKFGF
                     SNITGIDYSPSAIQLSGSIIEKEGLSNIKLKVEDFLNLSTQLSGFHICIDKGTFDAIS
                     LNPDNAIEKRKQYVKSLSRVLKVKGFFLITSCNWTKEELLNEFSEGWSTVAGFWLTAA
                     LTSWAQAIFSTSASRVGGTTGTHHHAWIIFVFLAETRFCHVVQAGLELLGSSDSPTWP
                     PKVLGLYHARPSLAF"
     exon            165..230
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /inference="alignment:Splign:2.1.0"
     exon            231..345
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /inference="alignment:Splign:2.1.0"
     exon            346..453
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /inference="alignment:Splign:2.1.0"
     exon            454..670
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /inference="alignment:Splign:2.1.0"
     exon            671..929
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /inference="alignment:Splign:2.1.0"
     exon            930..3599
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1461..1466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /note="hexamer: AATATA"
     polyA_site      1479
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /note="major polyA site"
     regulatory      1553..1558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /note="hexamer: ATTAAA"
     polyA_site      1576
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
     regulatory      3579..3584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /note="hexamer: ACTAAA"
     polyA_site      3599
                     /gene="EEF1AKMT2"
                     /gene_synonym="C10orf138; Efm4; METTL10"
                     /note="major polyA site"
ORIGIN      
        1 gcctgtgccc cgtctctatg gcggccccaa cggccgtcca ggacgtggag cgaaatgagc
       61 tcgggcgctg acggcggcgg tggcgctgcg gtggcggcgc ggtcggacaa gggcagtccc
      121 ggggaggacg gtttcgtccc gtcggcgctg gggacccgcg agcattggga tgctgtctat
      181 gagagagaac tgcaaacttt ccgagaatat ggagatacag gtgaaatctg gtttggagaa
      241 gagagtatga atcgactaat aaggtggatg cagaaacaca agattccact ggatgcttca
      301 gtgcttgata ttggaactgg aaatggtgtt ttcctggttg aacttgcaaa atttggtttc
      361 tctaatatta ctggaattga ttactctcct tctgcaattc agctttctgg aagtattata
      421 gaaaaagaag gtttatctaa cattaagtta aaggtagaag actttttgaa tctctccaca
      481 cagctgtctg gatttcatat ttgtattgac aaagggactt ttgatgccat aagccttaat
      541 cctgacaatg caattgagaa gaggaagcaa tatgtgaaat ctctctccag ggtgttgaaa
      601 gtaaaaggct tttttctaat aacgtcatgt aattggacca aggaagagtt gctaaatgaa
      661 ttcagtgaag gttggagtac agtggcagga ttttggctca ctgcagcctt gacttcctgg
      721 gctcaagcga tcttttccac ttcagcctcc cgagtaggtg gaactacagg cacacatcat
      781 catgcctgga taatttttgt atttttagca gagacgaggt tttgccatgt tgtccaggct
      841 ggtctggaac tcctgggctc aagtgattct cccacctggc ctcccaaagt gctgggatta
      901 taccatgcca ggccctcgtt ggcattttag atttgaactt ctcgaagagc taccaacacc
      961 caagttcagc tttggaggca gatctggaaa cagtgtagca gcattggttt tccaaaaaat
     1021 gtgagacttt ttcttggacg aattcaggta gctacacaga atctacacag caaagttaac
     1081 ctgacacaga aaatccttgt gcaaataaat gcttagtaag tacacaggat gcacatgttg
     1141 aatagagtat actggattgg tgaaagaaaa taataataat gagcatctaa gtggttgggt
     1201 tttagagatc aatcaagaat aattttaatt ttcttttgta tttgaaatgt aaatagtttt
     1261 cttttcgatt aaaaaaattt cctataactg ctaaacagtt aaaaacttta aagtagtaaa
     1321 tgagtttata gaaagcatgt attcttgatt tttgtgcctt ggtaaagttg ataactattt
     1381 atgaatattt gaccaaatta ttccagcatc agaataataa gcaaaataac tttgttagtg
     1441 ttttgttaga ctgtttatga aatataacaa gaaatactat tttgtgttgg atggcggtta
     1501 tttttaaact taattaatac ctgtgaaaag gcctcttacc tttatgtata taattaaaca
     1561 aaatcagaga aatgtatcag ttgctcaagt tatcaagcct gcattttgca gctatggtct
     1621 tctacacact gtaagggtag tagaaggaaa gagaactaag gaatgttatt atttgctagc
     1681 gctatgttaa gttgtcttat taagtaattg agtcctttca atgtcttctt gaggtatgta
     1741 ttgcttgttc ttgtttctac gtataaggaa aatgaagctg agagaagtga agtcactttt
     1801 atgaggttca acagtacagg atggagccag gatttttatc tgggtctgtc tgactttaaa
     1861 acacatactc ttctcctagc atattctgcc tcacaggtgc ttagtctttg cctttgtagc
     1921 atttacagta cagctggaga cccatgatga ttacatataa agttcagtta gaaaagatgg
     1981 gtagttactt tattagtgtt catctgtgga gtatcagaat agcagtcagc caactctgtc
     2041 tcatatcatc cttcattact tttccccatc tccctactca aagacttgcc tctattaaga
     2101 attttgtcat tcttctgtga aagggtagtg taagttatat aagccctcag cgatacatgc
     2161 acaaagatgt tctagttagg ggctaatttg gcaagagaaa cagtttatta atgtttttga
     2221 aaagataagt catattcata cttaatacca ttttgtattt gtggtaatat tttaatattg
     2281 gagctaaata caaatttttg cataattttt tgatgatttt cagctttgtg ggcctattgg
     2341 gttacataag tgactttttg tttggcaaat gttactcctg tattgagtaa gtctaacatt
     2401 acgtcccttt tctttttggg gaggggtagc cagaggagtg agtttttcat ttagatcaac
     2461 attgatcaac cattaagaca agatagttga agacatgtat gtggactgtc aacaaaaata
     2521 acattttttg aaaagctttt attttcaaca tgtaaaaagt gagaaattac ttcaaaatat
     2581 atgcaattta aattttttag aagattgtgt tgattttacc aagacaggag atcttaaact
     2641 gtagaaactt ttatagtttt tgagatcggg tctttgtttt ttttcacatt aatattcttt
     2701 gatttcaaat ataacataga taagtactct tagaattttg agttaagtat atgctatttt
     2761 aatgtgctaa tcctacaaac taggctttct gtgtgactag actgagatgt tgagtttgat
     2821 tcacaaaaag cttagaatgg ttctttgttg aaaagctttt cgagtcacta tttggggcat
     2881 gttagtgcca tttgcaaagg tgaaggtttt cttttttttt ttttttttaa ccatagagct
     2941 tttgataagg ttaggaaaag gaagttgtca tctcttctta ttactctaat cctgctggaa
     3001 gctagcttct tagggactaa aaccagaaca aatggaaggt ccaaaaatgc taataagaaa
     3061 ttagtatttt cacataatac caaactgtaa aaaccaggcc agcaagtgtc accaggttcc
     3121 tgaaacaaac cataaataca ttatttaact tagtattgtt aaattgtata aatatgtggg
     3181 taactgtgac agaaattatg cacttataaa aagcagtaag ttacatagtg aatgctgttt
     3241 tctgtggata agaagctgga attgtgattt catttaatcg aaagacgctt actttgagga
     3301 aacttgtttg aaatgcaaac gcgatttctc tgtggagcct tcacggaatt gctgcttttc
     3361 actatgatta ttgctgcata acaggccact tctgtgtgta ggaagtgcgt gtgcaagtcc
     3421 aaagggaatt gaggcctgaa tgggtgggtt atcccaatta acaaatacaa agttttcagt
     3481 acattttgtt ttaagccagg tgcacaagtt agagttgctt tttgggactg gcatttatgt
     3541 atgtgagaat caaacctgat atcactcttg gcagcctgac taaagccatt taaaaataa
//
