LOCUS       NM_201400               2397 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens eukaryotic elongation factor 2 lysine
            methyltransferase (EEF2KMT), transcript variant 1, mRNA.
ACCESSION   NM_201400
VERSION     NM_201400.4
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 2397)
  AUTHORS   Francis,J.W., Shao,Z., Narkhede,P., Trinh,A.T., Lu,J., Song,J. and
            Gozani,O.
  TITLE     The FAM86 domain of FAM86A confers substrate specificity to promote
            EEF2-Lys525 methylation
  JOURNAL   J Biol Chem 299 (7), 104842 (2023)
   PUBMED   37209825
  REMARK    GeneRIF: The FAM86 domain of FAM86A confers substrate specificity
            to promote EEF2-Lys525 methylation.
REFERENCE   2  (bases 1 to 2397)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2397)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2397)
  AUTHORS   Davydova,E., Ho,A.Y.Y., Malecki,J., Moen,A., Enserink,J.M.,
            Jakobsson,M.E., Loenarz,C. and Falnes,P.O.
  TITLE     Identification and characterization of a novel evolutionarily
            conserved lysine-specific methyltransferase targeting eukaryotic
            translation elongation factor 2 (eEF2)
  JOURNAL   J Biol Chem 289 (44), 30499-30510 (2014)
   PUBMED   25231979
  REMARK    GeneRIF: Previously uncharacterized lysine-specific
            methyltransferase FAM86A and Yjr129c introduce a functionally
            important lysine methylation in eEF2.
REFERENCE   5  (bases 1 to 2397)
  AUTHORS   Toro,C., Olive,M., Dalakas,M.C., Sivakumar,K., Bilbao,J.M.,
            Tyndel,F., Vidal,N., Farrero,E., Sambuughin,N. and Goldfarb,L.G.
  TITLE     Exome sequencing identifies titin mutations causing hereditary
            myopathy with early respiratory failure (HMERF) in families of
            diverse ethnic origins
  JOURNAL   BMC Neurol 13, 29 (2013)
   PUBMED   23514108
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2397)
  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   7  (bases 1 to 2397)
  AUTHORS   Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
            Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
            Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
            Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
            Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
            and Borecki,I.B.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   8  (bases 1 to 2397)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026458.8.
            
            On May 17, 2019 this sequence version replaced NM_201400.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.85008.1,
                                           SRR1660807.212373.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000427587.9/ ENSP00000398502.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-152               AC026458.8         86051-86202         c
            153-215             AC026458.8         83859-83921         c
            216-296             AC026458.8         81891-81971         c
            297-398             AC026458.8         80201-80302         c
            399-532             AC026458.8         78839-78972         c
            533-798             AC026458.8         78491-78756         c
            799-948             AC026458.8         77514-77663         c
            949-2397            AC026458.8         72691-74139         c
FEATURES             Location/Qualifiers
     source          1..2397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2397
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="eukaryotic elongation factor 2 lysine
                     methyltransferase"
                     /db_xref="GeneID:196483"
                     /db_xref="HGNC:HGNC:32221"
                     /db_xref="MIM:615263"
     exon            1..152
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1049
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM86A; putative protein N-methyltransferase
                     FAM86A; family with sequence similarity 86, member A;
                     eEF2-lysine methyltransferase; protein-lysine
                     N-methyltransferase EEF2KMT"
                     /codon_start=1
                     /product="protein-lysine N-methyltransferase EEF2KMT
                     isoform 1"
                     /protein_id="NP_958802.1"
                     /db_xref="CCDS:CCDS10529.1"
                     /db_xref="GeneID:196483"
                     /db_xref="HGNC:HGNC:32221"
                     /db_xref="MIM:615263"
                     /translation="MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDS
                     ELLRDILHKTVKHPVCVKHPPSVKYARCFLSELIKKHEAVHTEPLDELYEALAETLMA
                     KESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRT
                     VLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVLEQLRGNVLLNGLSLEADITAKLDS
                     PRVTVAQLDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLVGVLRRLAACREHQRAP
                     EVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL"
     exon            153..215
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            216..296
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            297..398
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            399..532
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            533..798
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            799..948
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            949..2397
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1124..1129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="hexamer: GATAAA"
     polyA_site      1147
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="major polyA site"
     regulatory      1320..1325
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="hexamer: AATAAA"
     polyA_site      1356
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
     regulatory      1941..1946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="hexamer: AATAAA"
     polyA_site      1963
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
ORIGIN      
        1 agtccaggcc gggcttccgc ccggtctgcc ggcaacgctg cggccccgcc cacgtcatgg
       61 cgcccgagga gaacgcgggg accgaactct tgctgcagag tttcgagcgc cgcttcctgg
      121 cggcacgcac actgcgctcc ttcccctggc agagcttaga agcaaagtta agagactcat
      181 cagattctga gctgctgcgg gatattttgc acaagactgt gaagcatcct gtgtgtgtga
      241 agcacccgcc gtccgtcaaa tatgcccggt gctttctctc agaactcatc aaaaagcacg
      301 aggctgtcca cacagagcct ttggacgagc tgtatgaagc gctggcggag accctgatgg
      361 ccaaggagtc cacccagggc caccggagct atttgctgcc ctcgggaggc tcggtcacac
      421 tctccgagag cacggccatc atctcctacg gtaccacagg cctggtcaca tgggacgccg
      481 ccctctacct tgcagaatgg gccatcgaga acccggcagt cttcactaac aggactgtcc
      541 tagagcttgg cagtggtgct ggcctcacag gcctggccat ctgcaagatg tgccgccccc
      601 gggcatacat cttcagcgac tgtcacagcc gggtccttga gcagctccga gggaatgtcc
      661 ttctcaatgg cctctcatta gaggcagaca tcactgccaa gttagacagc cccagggtga
      721 cagtggccca gctggactgg gacgtcgcga cggtccatca gctctctgcc ttccagccag
      781 atgttgtcat tgcagcagat gtgctgtatt gcccagaagc catcatgtcg ctggtcgggg
      841 tcctgcggag gctggctgcc tgccgggagc accagcgggc tcctgaggtc tacgtggcct
      901 ttaccgtccg caacccagag acgtgccagc tgttcaccac cgagctaggc cgggccggga
      961 tcagatggga agtggaacct cgtcatgagc agaaactgtt tccctacgaa gagcacttgg
     1021 agatggcaat gctgaatctc accctgtagg actcacacac gactccaacg ggattgtgag
     1081 aatcaagtca ctctcatggg aagaattttt atatgggaaa gcggataaaa ctttcattgg
     1141 actggaatgt ttggagaatg ttaatttcca aatcaggaac cacaaactgc cctctaataa
     1201 gacatcggct atctaagcgt gtgggtgccc cctttctgcc agcagttctg gttcttaaga
     1261 aaatcaccat aaatcagaca tgaaaattct ggctccaaaa atagcatttt ctttgtgcaa
     1321 ataaaaacgt gtgtatcaag tatgatgttc ccccaacgtg gacacactca gttcctcaca
     1381 aagccaagcc cactgcagct gccacatccc tgggcttacg gtgcagcagg tgcttttttc
     1441 aagacaggaa tcaaaatgtt aggaacacgg cagaaagggg acacctggag accaaacgca
     1501 ggatgaggag ttctgcagag gtcacaggga agtcacagaa cagtaatacg ctagcagggg
     1561 catggggcgt gaagaacaga agaagagagg aagcgtttcc aagcctccag agaagaaatc
     1621 aaggccaacc aaagcttccc gggtcacaga accaattctt ttaccaggca gtaccactgc
     1681 tgtcatttca gcttctggcc actgggaggt gctgctcgaa agggtttgcc ctgagactcc
     1741 aagaagaagc tgcgggaagg acagcagggg tcctggggtt ttagcctctg gcccaggagt
     1801 tatgtgtcca taaccaaagg gagcacagtc tgcacccagc tctcatccca tcggagctgc
     1861 tgcgactccc gcaggttctt ccggaactgg tttagcttgc ccgcaggatc aggaaagttt
     1921 gagaaaagca tctgcaaaaa aataaagagc agagcttacc tcattgcctg tccccacccc
     1981 atcccaggtc accacctggc tgaccccagg tccccgaccc aacaacaacc cctcccaagt
     2041 ccctaactcc ctcacttgga ctcgagaccc ttcacacccc agcagcactc cgcctccaac
     2101 ttgacatcac agtttctgga aacttccccg catgtcccac tttcccacac ttggtgccct
     2161 ggagcacctc ccggcctcta cgtgctgccc attcccctgt gagcaccctc ctctcggcct
     2221 ctggccaacg cagtctcacc catctgtggg taacaagggg gtgtcggtgt tctttgcagc
     2281 cttgctaaac tgtctgaatc aaggatcaca aactacagcc tgcaggccaa atccagccca
     2341 cagcctgtgt ttgtaaataa agttttattg gaacaaagcc acacccctta atctaca
//
