LOCUS       NM_001135863            6128 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens electron transfer flavoprotein subunit beta lysine
            methyltransferase (ETFBKMT), transcript variant 2, mRNA.
ACCESSION   NM_001135863
VERSION     NM_001135863.2
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 6128)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 6128)
  AUTHORS   Shimazu,T., Furuse,T., Balan,S., Yamada,I., Okuno,S., Iwanari,H.,
            Suzuki,T., Hamakubo,T., Dohmae,N., Yoshikawa,T., Wakana,S. and
            Shinkai,Y.
  TITLE     Role of METTL20 in regulating beta-oxidation and heat production in
            mice under fasting or ketogenic conditions
  JOURNAL   Sci Rep 8 (1), 1179 (2018)
   PUBMED   29352221
  REMARK    GeneRIF: These results further indicate that METTL20-mediated
            protein methylation is not essential in humans but more likely
            modulates energy production during fasting or under other metabolic
            conditions where beta-oxidation is up-regulated.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6128)
  AUTHORS   Malecki,J., Ho,A.Y., Moen,A., Dahl,H.A. and Falnes,P.O.
  TITLE     Human METTL20 is a mitochondrial lysine methyltransferase that
            targets the beta subunit of electron transfer flavoprotein
            (ETFbeta) and modulates its activity
  JOURNAL   J Biol Chem 290 (1), 423-434 (2015)
   PUBMED   25416781
  REMARK    GeneRIF: Human METTL20 is a mitochondrial lysine methyltransferase
            that targets ETFbeta and modulates its activity.
REFERENCE   4  (bases 1 to 6128)
  AUTHORS   Rhein,V.F., Carroll,J., He,J., Ding,S., Fearnley,I.M. and
            Walker,J.E.
  TITLE     Human METTL20 methylates lysine residues adjacent to the
            recognition loop of the electron transfer flavoprotein in
            mitochondria
  JOURNAL   J Biol Chem 289 (35), 24640-24651 (2014)
   PUBMED   25023281
  REMARK    GeneRIF: Tagged METTL20 expressed in HEK293T cells specifically
            associates with the ETF and promotes the trimethylation of ETFbeta
            lysine residues 199 and 202
REFERENCE   5  (bases 1 to 6128)
  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   6  (bases 1 to 6128)
  AUTHORS   Kernstock,S., Davydova,E., Jakobsson,M., Moen,A., Pettersen,S.,
            Maelandsmo,G.M., Egge-Jacobsen,W. and Falnes,P.O.
  TITLE     Lysine methylation of VCP by a member of a novel human protein
            methyltransferase family
  JOURNAL   Nat Commun 3, 1038 (2012)
   PUBMED   22948820
  REMARK    GeneRIF: The METTL20 protein is here suggested to be a protein
            methyltransferase, as it is shown to belong to a family of 10 human
            methyltransferases, some of which are shown to have lysine specific
            protein methyltransferase activity.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA303137.1, BC039107.1, AC023157.38 and BC039417.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001135863.1.
            
            Transcript Variant: This variant (2) uses a different segment for
            its 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the
            same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL832339.1, SRR1803616.87300.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357721.3/ ENSP00000350353.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-361               DA303137.1         14-374
            362-1391            BC039107.1         827-1856
            1392-1981           AC023157.38        14887-15476
            1982-2096           BC039417.1         884-998
            2097-6128           AC023157.38        15592-19623
FEATURES             Location/Qualifiers
     source          1..6128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     gene            1..6128
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /note="electron transfer flavoprotein subunit beta lysine
                     methyltransferase"
                     /db_xref="GeneID:254013"
                     /db_xref="HGNC:HGNC:28739"
                     /db_xref="MIM:615256"
     exon            1..102
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /inference="alignment:Splign:2.1.0"
     exon            103..529
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /inference="alignment:Splign:2.1.0"
     CDS             216..1004
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /note="methyltransferase-like protein 20; protein N-lysine
                     methyltransferase METTL20; ETFB lysine methyltransferase;
                     methyltransferase like 20"
                     /codon_start=1
                     /product="electron transfer flavoprotein beta subunit
                     lysine methyltransferase"
                     /protein_id="NP_001129335.1"
                     /db_xref="CCDS:CCDS8724.1"
                     /db_xref="GeneID:254013"
                     /db_xref="HGNC:HGNC:28739"
                     /db_xref="MIM:615256"
                     /translation="MALSLGWKAHRNHCGLLLQALRSSGLLLFPCGQCPWRGAGSFLD
                     PEIKAFLEENTEVTSSGSLTPEIQLRLLTPRCKFWWERADLWPHSDPYWAIYWPGGQA
                     LSRYLLDNPDVVRGKSVLDLGSGCGATAIAAKMSGASRILANDIDPIAGMAITLNCEL
                     NRLNPFPILIQNILNLEQDKWDLVVLGDMFYDEDLADSLHQWLKKCFWTYRTRVLIGD
                     PGRPQFSGHSIQHHLHKVVEYSLLESTRQENSGLTTSTVWGFQP"
     exon            530..660
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /inference="alignment:Splign:2.1.0"
     exon            661..6128
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2079..2084
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /note="hexamer: AATAAA"
     polyA_site      2096
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /note="major polyA site"
     regulatory      4571..4576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /note="hexamer: AATAAA"
     polyA_site      4589
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /note="major polyA site"
     regulatory      5427..5432
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /note="hexamer: AATAAA"
     polyA_site      5459
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
     regulatory      6105..6110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
                     /note="hexamer: ATTAAA"
     polyA_site      6128
                     /gene="ETFBKMT"
                     /gene_synonym="C12orf72; ETFB-KMT; METTL20"
ORIGIN      
        1 agtctagtgg gataccaggc cctgagagac ccctacgatc ccaggacact gatgtggggt
       61 aactaacacc cactggaagt ctacgctgag ttcacaggct atagtcagag gttccggttg
      121 agatcaagtt gggagacaca cccttgttca ttctccttga gaagcagcta ttatcaacag
      181 aacattgaca gaacctgtgt ttggggaaag gactgatggc tttgagtcta ggttggaaag
      241 cacacaggaa ccactgtggt ctcctcttgc aggctctgcg aagcagtggt cttctcttgt
      301 ttccctgtgg ccagtgtccc tggagaggag ctggaagctt tttggaccct gagataaagg
      361 ctttcctgga ggagaacact gaagtcacca gcagtggtag cctcacccct gaaatccagt
      421 tgcggctttt gacccccaga tgcaaattct ggtgggagag agctgacctg tggccccaca
      481 gtgatcctta ctgggcaatc tactggccag gaggccaagc cctgtctagg tatcttttgg
      541 ataatcctga tgttgtcaga ggaaaatctg tattagatct tgggagtgga tgtggagcta
      601 cagctattgc tgctaagatg agtggggcat caaggatctt ggccaatgac atagacccta
      661 ttgcaggaat ggctattaca ctaaattgtg aattgaacag actgaatcct tttcctattt
      721 taatccaaaa cattttgaat ttggaacaag ataagtggga ccttgttgtt cttggcgata
      781 tgttttatga tgaagacctt gcagatagtc ttcatcagtg gctgaagaag tgcttctgga
      841 cctatagaac tcgagtactg attggtgacc ctgggcggcc ccagttcagt ggacacagca
      901 ttcagcatca cctgcacaaa gtggtagaat attcactttt ggagtctact aggcaggaaa
      961 acagtggact gacaacaagc acagtgtggg gttttcagcc ttgagttgtc aaagtgcttc
     1021 caagtatgaa tatagtaatg tttggatctg actctaaaag ttttctctat aggagatact
     1081 ctccagttta atgaatgtaa ttcttgttaa atggaaaatc ttgtttttaa aatatgaagg
     1141 tttagagttt tgtttacttt tgtcatgtaa ctggttctgt atttctatgc atgccaatta
     1201 tacacatctc tatctgcatt tttttttcta ttttaaccgc tgaaggaata tgattataca
     1261 atgccatact caatggtggc agcatttaat ttaagtaatg gagaagaatt aaacattgta
     1321 gctggatctg tttctgtagt cgaggacaac tgtgatgtaa ctttgaatta aacaaacaaa
     1381 acaaaacaga agaagactat atatatattt tttctttttt tagagacagt ctcactttgc
     1441 tcccaggctg gaatgcagtg gctattcaga ggcttaatca ttgggcactg cagccttgaa
     1501 ctctgggctt tttttttttt ttgagatgga gtctcagctc tgtcgtccag gctggagtgc
     1561 agtgactcat gtctcggctc actgtagcct ccacctcccc caatcaagcg attgtcctgt
     1621 ctcagcctcc agagtagctg ggattttagg tgtgcaccac catgcctggc taatttttgt
     1681 atttttagta gagacggggt tttgccatgt tggccaggcc ggtctcaaac tcctgacctc
     1741 aggtgatcca cccgccttgg cctcccaaag tgctaggatt acaggtgtga gccaccacgc
     1801 cagcctgacg atgtttttta cttctatcac ttccttttga ttttttctta tagcttctat
     1861 ctctgcttac gtcacccatc attcttgcgt gttgtatgct tttcgcatta gagccctttg
     1921 catgttaatc agttatttta aatttatgat ctggtaattc taaaatgtct gccataactg
     1981 agtctggttc tgatgcttgt tttcttttca gactgttttt ttgtctttta gcatgccttg
     2041 taattttttg ttgatagcta gacatgatgt attgcataaa taaacaagta aactaaggta
     2101 gcatgaggtt ttaaaatctg ggtagggcta ctgtttgctg tagagtagat attacaggct
     2161 aaattttcct ctagtgtcct ggctattgtc tcctctgtta tctttgagtt tccctagaga
     2221 ttccttctta tatagagtct gaagcttgca gtttttttca cctgtaattc cctgttatta
     2281 tacagtagcc taactgatgt gataaggtat gggagaaggt atgttctata gtcctgtgat
     2341 taagtctcag tcagttaagt cagcctgtgc ccctgctgtg accttcacaa gtgctttcag
     2401 cttttctttt gtcactttgg tgagacagga aggctagagg cagctggagt tgggtgcttc
     2461 ctttccccca ggtcaacgag gctctggtaa aatagtttcc cttgagaact ggcttttgtt
     2521 aaggagaact gaacacttgg gcatatttca aaatggttac tttccctatc ctcataccag
     2581 aagaggggat ttttctctga tcctcaccct gagaacctgg taggtatcct ggaggtaaaa
     2641 ctatgaaagt gtggtgtctc ccctaggagt gggccccctg gagtttgttt gttttaattt
     2701 aacaaagttt aattgagcaa agaacaatct gtgaattggg cagctcccaa aagcagaata
     2761 ggttcagagt gactgcaggg ttgccacacc tggttagata acgtttatgg acagattcct
     2821 agagcttttg attctttttt tttttttttt gaggcagagt ttcactctta ttgcccaggc
     2881 tggagtgcaa tggcgtgatc ttggctcact gcaacctcca cctcctgggt taaagtgatt
     2941 ctcctgcctc agcctcctga gtagctggga ttacaggtat acaccaccaa acccagctgg
     3001 gattacaggc atgcaccacc atgcccagct aatttttgta tttttagtaa agacagggct
     3061 tcgccatgtt ggccaggctg gtctcgaact cctgacctca ggtgatccac ctgcctcagc
     3121 ctccccaagt gctgggatta cacgtgtgag ccactgtgcc aggctggagc ttttgattct
     3181 taagtccatc cacatggagc ctccagcaac tcaggaatta cagcataaat gttcctattg
     3241 gtactggctc cagcaacagg cttctgctcc ctgtaagcta tggttctttg tatttgcgtt
     3301 tctaatttgt gaggcattct ctctttaacc ttaattctct aatggatcta agtgttgttg
     3361 acttttcagt ttattgagct tttttcttat tgtgaggatg ggaatgatga cttccaatct
     3421 ctttatatta gaaaatataa atcagactag agactggaaa tttttgttgt tgttgttggg
     3481 tgttttgttt tgtttgtttt tagacaggtc ttgctctctc atccaggctg gagttcagca
     3541 atgcgaccgt gctcactgca gcctcgactt tctaggctca ggtaatcctc ccacttcagc
     3601 ctccttagta gctaggactg taggcatgca ccaccatgat gcctggctag tttttttatt
     3661 ttgtattttt tgtagacatg gagtcttgct acattggcca ggctgggtat tactgggtat
     3721 ttctttcttt cctcctttat ttctttccat atttacttat tcaatgaata tttgagtgct
     3781 tattatatac caggcactgt tctaggcact ggggatatgg ggatacagca atgaaaaaaa
     3841 aagataaata ctttgtcctt atgaaatttg tattctagag tagggagaca taatgaacaa
     3901 atgaaaacag gcatcagatg gtgataggta gtaaggagaa aaagaagtaa gggtaatagg
     3961 gaatactggg tactggatgg ggtacagata ttttaaacag agtggtgaga aatagttaat
     4021 acagctagca acataaaaaa ggagaaatat caaactgcaa actgttttag gaagataaat
     4081 ccttcataga cccaaagaag ctcacaattt agatgtcgaa actagtttct gcaaaaaggg
     4141 gaaaatgtga ttgacttggt taaatattca gtattaaatt ttattgaatt tgtctttaga
     4201 aaaatttcat agttagaaca ggccttaccc attttgcaca tatatacata tgcaccacct
     4261 ttgcagtggc aacatatata tccacactat aaacatacca catttataaa tcttgtaagg
     4321 acaagaaatg gagttgaata agtacccccc aacatataca agaaagttag catacttacc
     4381 ccgtttttca ctacatcaga ggcaaaataa gaaatctttt aagaaaatct caagactggc
     4441 tcatggcaaa atgaatatgc taaatttggg ggttggttta agcgtggtat gtgtcaggta
     4501 attttgtgat taccaaaaag ttttcacttg aaaactaaga cctttgctgt ttatttcaca
     4561 atgtgaaatc aataaacctg aggatacaag tctctgtagt gatattctgt atttactcat
     4621 ttttacacat ttttgaatgc aattttgcta aggaaggaaa gcttacagat gcataaaatg
     4681 taactgggaa gagtagccat aaaaatcaat gaatggatgt ggctgggcaa gagcctctgt
     4741 aatactaata cgctgaatgg ctaataagtc acttcatttc ggtgaaacaa atacctaaat
     4801 tctttgaaga attaacaggc ttgatgttca ggtctgcttt tggcaaatgg gcatttaaat
     4861 actccaagaa ggtaagagcc agaaaatagg aaggtaacta tgcttttaga aatatgttta
     4921 cttagattct cccaaggttt atacttacag gtaaacttag aacaatagct caaataccta
     4981 cataggagaa ggaaatctca agggaaaaca gttaatttta aagttattta agaaacagaa
     5041 tccaacacca tagatcagag ttcatgctag gattatcatt tcaaaaataa tgactcatcc
     5101 aacagatata gaataatagc actttaaaga tgtttaagag taaagcacaa accatgtata
     5161 taccaagact tagctaattc tctgagagtt ataacttaag acaataaaat aattaaaaat
     5221 agtgttaaca ttaagtagaa tgcaaatctc tatagatggt ttcctgggaa agtagttttg
     5281 ataagctttc ctagcattga tcatcttcaa aaaagcatca ataaacagtc catgtcactt
     5341 gctttagttt gtttgggcct actaattgct ccaacacttc tcgggaatga tctataaaag
     5401 aaaacaatga caatatatta attgacaata aaaaatgttt aatgtttcct catgtctaac
     5461 tggaggtgat gttaattatt atacagttat ttaaaggatt aaaggaggtg atctataaag
     5521 cacaatatac aactaactca ctaataatta attaatggta gccctcacta ttattaggtg
     5581 tagtgcacct atcatggtat tacttgttta aaaaaaaaaa acaggcattt gttgttttct
     5641 ctgtaatttc atcataattc caccaaccag agtaatggtc taatttcacc attaacctgt
     5701 gttaatggtt aataactttt ttcaggatct tagccggaaa tagatgattc actaaagtgg
     5761 ggtgactgaa cagcatttaa tgaagggaat atttaccaaa aaagtaggat taaagaaagc
     5821 caataggtac ggtaaaccac cttgggaagc tgcaacacac ccaaagggtt aaaggaggta
     5881 gtagtcaccg aacgtgacaa gttgacctgt agctgaacat ttttccatgt ctgtataata
     5941 ctactataaa gcatgatttt aaatagataa ccattatata aatacactgt aatttaacca
     6001 atctatatta ttggacattt agatgttttc agtttttcac aatgtacagt cgtgattttg
     6061 atatggtttc catcctagtt ttaggatgtc ttttaaaaat ctgaattaaa gcaaaaatac
     6121 tgataaaa
//
