LOCUS       NM_003173               2736 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens SUV39H1 histone lysine methyltransferase (SUV39H1),
            transcript variant 2, mRNA.
ACCESSION   NM_003173
VERSION     NM_003173.4
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 2736)
  AUTHORS   Chen,Y., Weng,X., Zhang,C., Wang,S., Wu,X. and Cheng,B.
  TITLE     Inhibition of SUV39H1 reduces tumor angiogenesis via Notch1 in oral
            squamous cell carcinoma
  JOURNAL   PeerJ 12, e17222 (2024)
   PUBMED   38650654
  REMARK    GeneRIF: Inhibition of SUV39H1 reduces tumor angiogenesis via
            Notch1 in oral squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2736)
  AUTHORS   Kong,M., Zhou,J., Kang,A., Kuai,Y., Xu,H., Li,M., Miao,X., Guo,Y.,
            Fan,Z., Xu,Y. and Li,Z.
  TITLE     Histone methyltransferase Suv39h1 regulates hepatic stellate cell
            activation and is targetable in liver fibrosis
  JOURNAL   Gut 73 (5), 810-824 (2024)
   PUBMED   38176898
  REMARK    GeneRIF: Histone methyltransferase Suv39h1 regulates hepatic
            stellate cell activation and is targetable in liver fibrosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2736)
  AUTHORS   Kalita,B., Sahu,S., Bharadwaj,A., Panneerselvam,L.,
            Martinez-Cebrian,G., Agarwal,M. and Mathew,S.J.
  TITLE     The Wnt-pathway corepressor TLE3 interacts with the histone
            methyltransferase KMT1A to inhibit differentiation in
            Rhabdomyosarcoma
  JOURNAL   Oncogene 43 (7), 524-538 (2024)
   PUBMED   38177411
  REMARK    GeneRIF: The Wnt-pathway corepressor TLE3 interacts with the
            histone methyltransferase KMT1A to inhibit differentiation in
            Rhabdomyosarcoma.
REFERENCE   4  (bases 1 to 2736)
  AUTHORS   Zhang,Y., Lao,W., Yang,K., Kong,X., Li,Y., Yu,X., Wang,X., Liu,Y.,
            Li,Z., Deng,Y., Nie,S., Bi,C., Wu,C. and Zhai,A.
  TITLE     SUV39H1 is a novel biomarker targeting oxidative phosphorylation in
            hepatitis B virus-associated hepatocellular carcinoma
  JOURNAL   BMC Cancer 23 (1), 1159 (2023)
   PUBMED   38017386
  REMARK    GeneRIF: SUV39H1 is a novel biomarker targeting oxidative
            phosphorylation in hepatitis B virus-associated hepatocellular
            carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2736)
  AUTHORS   Hagemann,T.L., Mares,D. and Kwan,S.
  TITLE     Gene regulation of Wiskott-Aldrich syndrome protein and the human
            homolog of the Drosophila Su(var)3-9: WASP and SUV39H1, two
            adjacent genes at Xp11.23
  JOURNAL   Biochim Biophys Acta 1493 (3), 368-372 (2000)
   PUBMED   11018264
REFERENCE   6  (bases 1 to 2736)
  AUTHORS   Firestein,R., Cui,X., Huie,P. and Cleary,M.L.
  TITLE     Set domain-dependent regulation of transcriptional silencing and
            growth control by SUV39H1, a mammalian ortholog of Drosophila
            Su(var)3-9
  JOURNAL   Mol Cell Biol 20 (13), 4900-4909 (2000)
   PUBMED   10848615
REFERENCE   7  (bases 1 to 2736)
  AUTHORS   Fraser,M.E., James,M.N., Bridger,W.A. and Wolodko,W.T.
  TITLE     Phosphorylated and dephosphorylated structures of pig heart,
            GTP-specific succinyl-CoA synthetase
  JOURNAL   J Mol Biol 299 (5), 1325-1339 (2000)
   PUBMED   10873456
REFERENCE   8  (bases 1 to 2736)
  AUTHORS   Melcher,M., Schmid,M., Aagaard,L., Selenko,P., Laible,G. and
            Jenuwein,T.
  TITLE     Structure-function analysis of SUV39H1 reveals a dominant role in
            heterochromatin organization, chromosome segregation, and mitotic
            progression
  JOURNAL   Mol Cell Biol 20 (10), 3728-3741 (2000)
   PUBMED   10779362
REFERENCE   9  (bases 1 to 2736)
  AUTHORS   Aagaard,L., Schmid,M., Warburton,P. and Jenuwein,T.
  TITLE     Mitotic phosphorylation of SUV39H1, a novel component of active
            centromeres, coincides with transient accumulation at mammalian
            centromeres
  JOURNAL   J Cell Sci 113 (Pt 5), 817-829 (2000)
   PUBMED   10671371
REFERENCE   10 (bases 1 to 2736)
  AUTHORS   Aagaard,L., Laible,G., Selenko,P., Schmid,M., Dorn,R., Schotta,G.,
            Kuhfittig,S., Wolf,A., Lebersorger,A., Singh,P.B., Reuter,G. and
            Jenuwein,T.
  TITLE     Functional mammalian homologues of the Drosophila PEV-modifier
            Su(var)3-9 encode centromere-associated proteins which complex with
            the heterochromatin component M31
  JOURNAL   EMBO J 18 (7), 1923-1938 (1999)
   PUBMED   10202156
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC231533.2, BC006238.2,
            AF019968.1 and AW327567.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 4, 2019 this sequence version replaced NM_003173.3.
            
            Summary: This gene encodes an evolutionarily-conserved protein
            containing an N-terminal chromodomain and a C-terminal SET domain.
            The encoded protein is a histone methyltransferase that
            trimethylates lysine 9 of histone H3, which results in
            transcriptional gene silencing. Loss of function of this gene
            disrupts heterochromatin formation and may cause chromosome
            instability. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (2) is shorter and has a distinct N-terminus, compared to isoform
            1.
            
            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 :: SRR1803616.168319.1,
                                           SRR1803612.15459.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376687.4/ ENSP00000365877.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AC231533.2         144425-144432       c
            9-2623              BC006238.2         1-2615
            2624-2732           AF019968.1         2617-2725
            2733-2736           AW327567.1         16-19               c
FEATURES             Location/Qualifiers
     source          1..2736
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..2736
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /note="SUV39H1 histone lysine methyltransferase"
                     /db_xref="GeneID:6839"
                     /db_xref="HGNC:HGNC:11479"
                     /db_xref="MIM:300254"
     exon            1..70
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1290
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /EC_number="2.1.1.355"
                     /note="isoform 2 is encoded by transcript variant 2;
                     histone-lysine N-methyltransferase, H3 lysine-9 specific
                     1; histone H3-K9 methyltransferase 1; Su(var)3-9 homolog
                     1; lysine N-methyltransferase 1A; position-effect
                     variegation 3-9 homolog; suppressor of variegation 3-9
                     homolog 1"
                     /codon_start=1
                     /product="histone-lysine N-methyltransferase SUV39H1
                     isoform 2"
                     /protein_id="NP_003164.1"
                     /db_xref="CCDS:CCDS14304.1"
                     /db_xref="GeneID:6839"
                     /db_xref="HGNC:HGNC:11479"
                     /db_xref="MIM:300254"
                     /translation="MAENLKGCSVCCKSSWNQLQDLCRLAKLSCPALGISKRNLYDFE
                     VEYLCDYKKIREQEYYLVKWRGYPDSESTWEPRQNLKCVRILKQFHKDLERELLRRHH
                     RSKTPRHLDPSLANYLVQKAKQRRALRRWEQELNAKRSHLGRITVENEVDLDGPPRAF
                     VYINEYRVGEGITLNQVAVGCECQDCLWAPTGGCCPGASLHKFAYNDQGQVRLRAGLP
                     IYECNSRCRCGYDCPNRVVQKGIRYDLCIFRTDDGRGWGVRTLEKIRKNSFVMEYVGE
                     IITSEEAERRGQIYDRQGATYLFDLDYVEDVYTVDAAYYGNISHFVNHSCDPNLQVYN
                     VFIDNLDERLPRIAFFATRTIRAGEELTFDYNMQVDPVDMESTRMDSNFGLAGLPGSP
                     KKRVRIECKCGTESCRKYLF"
     exon            71..216
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /inference="alignment:Splign:2.1.0"
     exon            217..879
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /inference="alignment:Splign:2.1.0"
     exon            880..1026
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1156
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..2736
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2715..2720
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /note="hexamer: AATGAA"
     polyA_site      2736
                     /gene="SUV39H1"
                     /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H"
                     /note="major polyA site"
ORIGIN      
        1 gctcttctcg cgaggccggc taggcccgaa tgtcgttagc cgtggggaaa gatggcggaa
       61 aatttaaaag gctgcagcgt gtgttgcaag tcttcttgga atcagctgca ggacctgtgc
      121 cgcctggcca agctctcctg ccctgccctc ggtatctcta agaggaacct ctatgacttt
      181 gaagtcgagt acctgtgcga ttacaagaag atccgcgaac aggaatatta cctggtgaaa
      241 tggcgtggat atccagactc agagagcacc tgggagccac ggcagaatct caagtgtgtg
      301 cgtatcctca agcagttcca caaggactta gaaagggagc tgctccggcg gcaccaccgg
      361 tcaaagaccc cccggcacct ggacccaagc ttggccaact acctggtgca gaaggccaag
      421 cagaggcggg cgctccgtcg ctgggagcag gagctcaatg ccaagcgcag ccatctggga
      481 cgcatcactg tagagaatga ggtggacctg gacggccctc cgcgggcctt cgtgtacatc
      541 aatgagtacc gtgttggtga gggcatcacc ctcaaccagg tggctgtggg ctgcgagtgc
      601 caggactgtc tgtgggcacc cactggaggc tgctgcccgg gggcgtcact gcacaagttt
      661 gcctacaatg accagggcca ggtgcggctt cgagccgggc tgcccatcta cgagtgcaac
      721 tcccgctgcc gctgcggcta tgactgccca aatcgtgtgg tacagaaggg tatccgatat
      781 gacctctgca tcttccgcac ggatgatggg cgtggctggg gcgtccgcac cctggagaag
      841 attcgcaaga acagcttcgt catggagtac gtgggagaga tcattacctc agaggaggca
      901 gagcggcggg gccagatcta cgaccgtcag ggcgccacct acctctttga cctggactac
      961 gtggaggacg tgtacaccgt ggatgccgcc tactatggca acatctccca ctttgtcaac
     1021 cacagttgtg accccaacct gcaggtgtac aacgtcttca tagacaacct tgacgagcgg
     1081 ctgccccgca tcgctttctt tgccacaaga accatccggg caggcgagga gctcaccttt
     1141 gattacaaca tgcaagtgga ccccgtggac atggagagca cccgcatgga ctccaacttt
     1201 ggcctggctg ggctccctgg ctcccctaag aagcgggtcc gtattgaatg caagtgtggg
     1261 actgagtcct gccgcaaata cctcttctag cccttagaag tctgaggcca gactgactga
     1321 gggggcctga agctacatgc acctccccca ctgctgccct cctgtcgaga atgactgcca
     1381 gggcctcgcc tgcctccacc tgcccccacc tgctcctacc tgctctacgt tcagggctgt
     1441 ggccgtggtg aggaccgact ccaggagtcc cctttccctg tcccagcccc atctgtgggt
     1501 tgcacttaca aacccccacc caccttcaga aatagttttt caacatcaag actctctgtc
     1561 gttgggattc atggcctatt aaggaggtcc aaggggtgag tcccaaccca gccccagaat
     1621 atatttgttt ttgcacctgc ttctgcctgg agattgaggg gtctgctgca ggcctcctcc
     1681 ctgctgcccc aaaggtatgg ggaagcaacc ccagagcagg cagacatcag aggccagagt
     1741 gcctagcccg acatgaagct ggttccccaa ccacagaaac tttgtactag tgaaagaaag
     1801 ggggtccctg ggctacgggc tgaggctggt ttctgctcgt gcttacagtg ctgggtagtg
     1861 ttggccctaa gagctgtagg gtctcttctt cagggctgca tatctgagaa gtggatgccc
     1921 acatgccact ggaagggaag tgggtgtcca tgggccactg agcagtgaga ggaaggcagt
     1981 gcagagctgg ccagccctgg aggtaggctg ggaccaagct ctgccttcac agtgcagtga
     2041 aggtacctag ggctcttggg agctctgcgg ttgctagggg ccctgacctg gggtgtcatg
     2101 accgctgaca ccactcagag ctggaaccaa gatctagata gtccgtagat agcacttagg
     2161 acaagaatgt gcattgatgg ggtggtgatg aggtgccagg cactgggtag agcacctggt
     2221 ccacgtggat tgtctcaggg aagccttgaa aaccacggag gtggatgcca ggaaagggcc
     2281 catgtggcag aaggcaaagt acaggccaag aattgggggt gggggagatg gcttccccac
     2341 tatgggatga cgaggcgaga gggaagccct tgctgcctgc cattcccaga ccccagccct
     2401 ttgtgctcac cctggttcca ctggtctcaa aagtcacctg cctacaaatg tacaaaaggc
     2461 gaaggttctg atggctgcct tgctccttgc tcccccaccc cctgtgagga cttctctagg
     2521 aagtccttcc tgactacctg tgcccagagt gcccctacat gagactgtat gccctgctat
     2581 cagatgccag atctatgtgt ctgtctgtgt gtccatcccg ccggcccccc agactaacct
     2641 ccaggcatgg actgaatctg gttctcctct tgtacacccc tcaaccctat gcagcctgga
     2701 gtgggcatca ataaaatgaa ctgtcgactg aacaaa
//
