LOCUS       NM_020382               2776 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens lysine methyltransferase 5A (KMT5A), transcript
            variant 1, mRNA.
ACCESSION   NM_020382 XM_370708
VERSION     NM_020382.7
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 2776)
  AUTHORS   Peng,X., Ma,L., Chen,X., Tang,F. and Zong,X.
  TITLE     Inhibition of FBP1 expression by KMT5A through TWIST1 methylation
            is one of the mechanisms leading to chemoresistance in breast
            cancer
  JOURNAL   Oncol Rep 52 (2) (2024)
   PUBMED   38963044
  REMARK    GeneRIF: Inhibition of FBP1 expression by KMT5A through TWIST1
            methylation is one of the mechanisms leading to chemoresistance in
            breast cancer.
REFERENCE   2  (bases 1 to 2776)
  AUTHORS   Li,Y., Cheng,M., Jin,J., Zhang,D., Zhang,S., Bai,Y. and Xu,J.
  TITLE     Interaction of Sp1 and Setd8 promotes vascular smooth muscle cells
            apoptosis by activating Mark4 in vascular calcification
  JOURNAL   Aging (Albany NY) 16 (3), 2438-2456 (2024)
   PUBMED   38301049
  REMARK    GeneRIF: Interaction of Sp1 and Setd8 promotes vascular smooth
            muscle cells apoptosis by activating Mark4 in vascular
            calcification.
REFERENCE   3  (bases 1 to 2776)
  AUTHORS   Li,J., Song,H., Chen,T., Zhang,S., Zhang,C., Ma,C., Zhang,L.,
            Wang,T., Qian,Y. and Deng,X.
  TITLE     Lysine Methyltransferase 5A Promotes the Progression of Growth
            Hormone Pituitary Neuroendocrine Tumors through the
            Wnt/beta-Catenin Signaling Pathway
  JOURNAL   Neuroendocrinology 114 (6), 589-601 (2024)
   PUBMED   38565081
  REMARK    GeneRIF: Lysine Methyltransferase 5A Promotes the Progression of
            Growth Hormone Pituitary Neuroendocrine Tumors through the
            Wnt/beta-Catenin Signaling Pathway.
REFERENCE   4  (bases 1 to 2776)
  AUTHORS   Ke,B. and Ye,K.
  TITLE     SETD8 promotes glycolysis in colorectal cancer via regulating
            HIF1alpha/HK2 axis
  JOURNAL   Tissue Cell 82, 102065 (2023)
   PUBMED   36921492
  REMARK    GeneRIF: SETD8 promotes glycolysis in colorectal cancer via
            regulating HIF1alpha/HK2 axis.
REFERENCE   5  (bases 1 to 2776)
  AUTHORS   An,J., Zhang,J., Wang,Z., Wang,K., Liang,W., Liu,X., Zhou,H.,
            Zhang,H. and Wang,S.
  TITLE     KMT5A Knockdown Suppresses Osteosarcoma Cell Proliferation and
            Metastasis Through -Catenin Signalling
  JOURNAL   Clin Invest Med 45 (3), E23-E31 (2022)
   PUBMED   36149050
  REMARK    GeneRIF: KMT5A Knockdown Suppresses Osteosarcoma Cell Proliferation
            and Metastasis Through -Catenin Signalling.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2776)
  AUTHORS   Schlisio,S., Halperin,T., Vidal,M. and Nevins,J.R.
  TITLE     Interaction of YY1 with E2Fs, mediated by RYBP, provides a
            mechanism for specificity of E2F function
  JOURNAL   EMBO J 21 (21), 5775-5786 (2002)
   PUBMED   12411495
REFERENCE   7  (bases 1 to 2776)
  AUTHORS   Rice,J.C., Nishioka,K., Sarma,K., Steward,R., Reinberg,D. and
            Allis,C.D.
  TITLE     Mitotic-specific methylation of histone H4 Lys 20 follows increased
            PR-Set7 expression and its localization to mitotic chromosomes
  JOURNAL   Genes Dev 16 (17), 2225-2230 (2002)
   PUBMED   12208845
REFERENCE   8  (bases 1 to 2776)
  AUTHORS   Fang,J., Feng,Q., Ketel,C.S., Wang,H., Cao,R., Xia,L.,
            Erdjument-Bromage,H., Tempst,P., Simon,J.A. and Zhang,Y.
  TITLE     Purification and functional characterization of SET8, a nucleosomal
            histone H4-lysine 20-specific methyltransferase
  JOURNAL   Curr Biol 12 (13), 1086-1099 (2002)
   PUBMED   12121615
REFERENCE   9  (bases 1 to 2776)
  AUTHORS   Nishioka,K., Rice,J.C., Sarma,K., Erdjument-Bromage,H., Werner,J.,
            Wang,Y., Chuikov,S., Valenzuela,P., Tempst,P., Steward,R.,
            Lis,J.T., Allis,C.D. and Reinberg,D.
  TITLE     PR-Set7 is a nucleosome-specific methyltransferase that modifies
            lysine 20 of histone H4 and is associated with silent chromatin
  JOURNAL   Mol Cell 9 (6), 1201-1213 (2002)
   PUBMED   12086618
REFERENCE   10 (bases 1 to 2776)
  AUTHORS   Mizzen,C.A., Yang,X.J., Kokubo,T., Brownell,J.E., Bannister,A.J.,
            Owen-Hughes,T., Workman,J., Wang,L., Berger,S.L., Kouzarides,T.,
            Nakatani,Y. and Allis,C.D.
  TITLE     The TAF(II)250 subunit of TFIID has histone acetyltransferase
            activity
  JOURNAL   Cell 87 (7), 1261-1270 (1996)
   PUBMED   8980232
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC137767.16 and AC145423.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 29, 2018 this sequence version replaced NM_020382.6.
            
            Summary: The protein encoded by this gene is a protein-lysine
            N-methyltransferase that can monomethylate Lys-20 of histone H4 to
            effect transcriptional repression of some genes. The encoded
            protein is required for cell proliferation and plays a role in
            chromatin condensation. [provided by RefSeq, May 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.98760.1, BC050346.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000402868.8/ ENSP00000384629.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                AC137767.16        23086-23162         c
            78-199              AC137767.16        17740-17861         c
            200-356             AC137767.16        16508-16664         c
            357-576             AC137767.16        12028-12247         c
            577-664             AC137767.16        10862-10949         c
            665-724             AC137767.16        3662-3721           c
            725-915             AC137767.16        2220-2410           c
            916-2776            AC145423.8         47590-49450
FEATURES             Location/Qualifiers
     source          1..2776
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..2776
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /note="lysine methyltransferase 5A"
                     /db_xref="GeneID:387893"
                     /db_xref="HGNC:HGNC:29489"
                     /db_xref="MIM:607240"
     exon            1..77
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1126
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /EC_number="2.1.1.361"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PR/SET domain containing protein 8; H4-K20-specific
                     histone methyltransferase; histone-lysine
                     N-methyltransferase SETD8; N-lysine methyltransferase
                     SETD8; H4-K20-HMTase SETD8; lysine N-methyltransferase 5A;
                     SET domain-containing protein 8; PR/SET domain-containing
                     protein 07; SET domain containing (lysine
                     methyltransferase) 8; lysine (K)-specific
                     methyltransferase 5A; H4-K20-HMTase KMT5A; lysine-specific
                     methylase 5A; histone-lysine N-methyltransferase KMT5A;
                     N-lysine methyltransferase KMT5A"
                     /codon_start=1
                     /product="N-lysine methyltransferase KMT5A isoform 1"
                     /protein_id="NP_065115.3"
                     /db_xref="CCDS:CCDS9247.1"
                     /db_xref="GeneID:387893"
                     /db_xref="HGNC:HGNC:29489"
                     /db_xref="MIM:607240"
                     /translation="MARGRKMSKPRAVEAAAAAAAVAATAPGPEMVERRGPGRPRTDG
                     ENVFTGQSKIYSYMSPNKCSGMRFPLQEENSVTHHEVKCQGKPLAGIYRKREEKRNAG
                     NAVRSAMKSEEQKIKDARKGPLVPFPNQKSEAAEPPKTPPSSCDSTNAAIAKQALKKP
                     IKGKQAPRKKAQGKTQQNRKLTDFYPVRRSSRKSKAELQSEERKRIDELIESGKEEGM
                     KIDLIDGKGRGVIATKQFSRGDFVVEYHGDLIEITDAKKREALYAQDPSTGCYMYYFQ
                     YLSKTYCVDATRETNRLGRLINHSKCGNCQTKLHDIDGVPHLILIASRDIAAGEELLY
                     DYGDRSKASIEAHPWLKH"
     exon            78..199
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /inference="alignment:Splign:2.1.0"
     exon            200..356
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /inference="alignment:Splign:2.1.0"
     exon            357..576
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /inference="alignment:Splign:2.1.0"
     exon            577..664
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /inference="alignment:Splign:2.1.0"
     exon            665..724
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /inference="alignment:Splign:2.1.0"
     exon            725..915
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /inference="alignment:Splign:2.1.0"
     exon            916..2776
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2753..2758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /note="hexamer: ATTAAA"
     polyA_site      2776
                     /gene="KMT5A"
                     /gene_synonym="PR-Set7; PR/SET07; SET07; SET8; SETD8"
                     /note="major polyA site"
ORIGIN      
        1 gagttgttgc aacttttttc gaaagctggg tttcccggga gatcccaggc ggtgacagag
       61 tggagccatg gctagaggca ggaagatgtc caagccccgc gcggtggagg cggcggcggc
      121 ggcggcggcg gtggcagcga cggccccggg cccggagatg gtggagcgga ggggcccggg
      181 gaggccccgc accgacgggg agaacgtatt taccgggcag tcaaagatct attcctacat
      241 gagcccgaac aaatgctctg gaatgcgttt cccccttcag gaagagaact cagttacaca
      301 tcacgaagtc aaatgccagg ggaaaccatt agccggaatc tacaggaaac gagaagagaa
      361 aagaaatgct gggaacgcag tacggagcgc catgaagtcc gaggaacaga agatcaaaga
      421 cgccaggaaa ggtcccctgg taccttttcc aaaccaaaaa tctgaagcag cagaacctcc
      481 aaaaactcca ccctcatctt gtgattccac caatgcagcc atcgccaagc aagccctgaa
      541 aaagcccatc aagggcaaac aggccccccg aaaaaaagct caaggaaaaa cgcaacagaa
      601 tcgcaaactt acggatttct accctgtccg aaggagctcc aggaagagca aagccgagct
      661 gcagtctgaa gaaaggaaaa gaatagatga attgattgaa agtgggaagg aagaaggaat
      721 gaagattgac ctcatcgatg gcaaaggcag gggtgtgatt gccaccaagc agttctcccg
      781 gggtgacttt gtggtggaat accacgggga cctcatcgag atcaccgacg ccaagaaacg
      841 ggaggctctg tacgcacagg acccttccac gggctgctac atgtactatt ttcagtatct
      901 gagcaaaacc tactgcgtgg atgcaactag agagacaaat cgcctaggaa gactgatcaa
      961 tcacagcaaa tgtgggaact gccaaaccaa actgcacgac atcgacggcg tacctcacct
     1021 catcctcatc gcctcccgag acatcgcggc tggggaggag ctcctgtatg actatgggga
     1081 ccgcagcaag gcttccattg aagcccaccc gtggctgaag cattaaccgg tgggccccgt
     1141 gccctccccg ccccactttc ccttcttcaa aggacaaagt gccctcaaag ggaattgaat
     1201 ttttttttta cacacttaat cttagcggat tacttcagat gtttttaaaa agtatattaa
     1261 gatgcctttt cactgtagta tttaaatatc tgttacaggt ttccaaggtg gacttgaaca
     1321 gatggcctta tattaccaaa acttttatat tctagttgtt tttgtacttt ttttgcatac
     1381 aagccgaacg tttgtgcttc ccgtgcatgc agtcaaagac tcagcacagg ttttagagga
     1441 aatagtcaaa catgaactag gaagccaggt gagtctcctt tctccagtgg aagagccggg
     1501 accttccccc tgcacccccg acatccaggg acggggtgtg aggaagacgc tgcctcccaa
     1561 tggcctggac gggatgtttc caagctcttg ttcccctaac gtctcaacag gcgctcactg
     1621 aagtgtatga atatttttta aaaaggtttt tgcagtaagc tagtcttccc ctctgctttc
     1681 tcgaaagctt actgagcccc gggccccaag cacgggccgg gcatagattt cctcttccac
     1741 aagctgccgc ttttctgggc accttgaagc atcagggcgt gaaatcaaac tagatgtggg
     1801 cagggagagg gttgcttacc tgccctgctg gggcagggtt tcctgaaact gggttaattc
     1861 tttatagaaa tgtgaacact gaatttattt taaaaaataa taataaaaat ttaaaaaaat
     1921 taaaaataaa aaaaaccaca gaaaacaact ttacatgtat ataggtcttg aagtgagtga
     1981 agtggctgct tttttttttt tttttttttg cttttttttg ctttttgtag aagagattga
     2041 gaatggtact ctaatcaaaa ataaagtttt gtagtgggac cagaaattac ttacctgaca
     2101 tccaccccca ttccccctca tcctgctggg gttgaaagtt ccagacctgc tgtcgaggcc
     2161 ttgtgtttgt cagacaccca gtgtcctcct gcaaggacgc aactgtgagc tgaggtgtga
     2221 gcctaggagc ccaggacccc tgaccccggc cgctgctgcc agcctcagaa aggcacccag
     2281 gtgtgcaggg gagcacacag ggcccggcag cccccaggaa tcaaggatag ggctaaggtt
     2341 ttcaccttaa ctgtgaaggc aggaggaata ggtgactgct tcctcccgcc cttcacagaa
     2401 ctgattctca cacactgtcc cttcagtcca gggggccggg gctcaggagc catgacctgg
     2461 tgtctcctgc ccaccctggt cccaggtaaa tgtgaatgga gacaggtatg agaggctgtc
     2521 ctcgtctttg attccccccc aaccccacct cgggcctcac gacggtgcta cctaagaaag
     2581 tcttccctcc caccccccgc tagcctggtc agtggtcagc aaattggaag aggatccgat
     2641 gggagtgtaa atgtgagaca caatgtcttg attatacctg tttgtggttt agctttgtat
     2701 ttaaacaagg aaataaactt gaaaattatt tgtcatcata aaaatgaaac aaattaaaat
     2761 atttattgcc aggcaa
//
