LOCUS       NM_001991               4633 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens enhancer of zeste 1 polycomb repressive complex 2
            subunit (EZH1), transcript variant 1, mRNA.
ACCESSION   NM_001991 XR_109385 XR_111700 XR_115105
VERSION     NM_001991.5
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 4633)
  AUTHORS   Chen,S.Y., Li,J.D., Huang,Z.G., He,R.Q., Chen,F., Li,J.J.,
            Huang,Z.Q., Chen,J.T., Chen,G. and Dang,Y.W.
  TITLE     Clinical Significance of Upregulation of EZH1 Expression in
            Hepatocellular Carcinoma Tissues
  JOURNAL   J Gastrointestin Liver Dis 33 (1), 44-56 (2024)
   PUBMED   38554427
  REMARK    GeneRIF: Clinical Significance of Upregulation of EZH1 Expression
            in Hepatocellular Carcinoma Tissues.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4633)
  AUTHORS   Chen,J., Tang,S., Zheng,Q., Li,J., Jiang,H., Lu,H., Liao,G., Li,K.
            and Liang,Y.
  TITLE     The competitive mechanism of EZH1 and EZH2 in promoting oral
            squamous cell carcinoma
  JOURNAL   Exp Cell Res 436 (1), 113957 (2024)
   PUBMED   38309675
  REMARK    GeneRIF: The competitive mechanism of EZH1 and EZH2 in promoting
            oral squamous cell carcinoma.
REFERENCE   3  (bases 1 to 4633)
  AUTHORS   Gracia-Diaz,C., Zhou,Y., Yang,Q., Maroofian,R., Espana-Bonilla,P.,
            Lee,C.H., Zhang,S., Padilla,N., Fueyo,R., Waxman,E.A., Lei,S.,
            Otrimski,G., Li,D., Sheppard,S.E., Mark,P., Harr,M.H.,
            Hakonarson,H., Rodan,L., Jackson,A., Vasudevan,P., Powel,C.,
            Mohammed,S., Maddirevula,S., Alzaidan,H., Faqeih,E.A.,
            Efthymiou,S., Turchetti,V., Rahman,F., Maqbool,S., Salpietro,V.,
            Ibrahim,S.H., di Rosa,G., Houlden,H., Alharbi,M.N., Al-Sannaa,N.A.,
            Bauer,P., Zifarelli,G., Estaras,C., Hurst,A.C.E., Thompson,M.L.,
            Chassevent,A., Smith-Hicks,C.L., de la Cruz,X., Holtz,A.M.,
            Elloumi,H.Z., Hajianpour,M.J., Rieubland,C., Braun,D., Banka,S.,
            French,D.L., Heller,E.A., Saade,M., Song,H., Ming,G.L.,
            Alkuraya,F.S., Agrawal,P.B., Reinberg,D., Bhoj,E.J.,
            Martinez-Balbas,M.A. and Akizu,N.
  CONSRTM   Genomic England Research Consortium
  TITLE     Gain and loss of function variants in EZH1 disrupt neurogenesis and
            cause dominant and recessive neurodevelopmental disorders
  JOURNAL   Nat Commun 14 (1), 4109 (2023)
   PUBMED   37433783
  REMARK    GeneRIF: Gain and loss of function variants in EZH1 disrupt
            neurogenesis and cause dominant and recessive neurodevelopmental
            disorders.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4633)
  AUTHORS   Lee,S.H., Li,Y., Kim,H., Eum,S., Park,K. and Lee,C.H.
  TITLE     The role of EZH1 and EZH2 in development and cancer
  JOURNAL   BMB Rep 55 (12), 595-601 (2022)
   PUBMED   36476271
  REMARK    GeneRIF: The role of EZH1 and EZH2 in development and cancer.
            Review article
REFERENCE   5  (bases 1 to 4633)
  AUTHORS   Shinno,Y., Takenobu,H., Sugino,R.P., Endo,Y., Okada,R., Haruta,M.,
            Satoh,S., Mukae,K., Shaliman,D., Wada,T., Akter,J., Ando,K.,
            Nakazawa,A., Yoshida,H., Ohira,M., Hishiki,T. and Kamijo,T.
  TITLE     Polycomb EZH1 regulates cell cycle/5-fluorouracil sensitivity of
            neuroblastoma cells in concert with MYCN
  JOURNAL   Cancer Sci 113 (12), 4193-4206 (2022)
   PUBMED   36052716
  REMARK    GeneRIF: Polycomb EZH1 regulates cell cycle/5-fluorouracil
            sensitivity of neuroblastoma cells in concert with MYCN.
REFERENCE   6  (bases 1 to 4633)
  AUTHORS   Abel,K.J., Brody,L.C., Valdes,J.M., Erdos,M.R., McKinley,D.R.,
            Castilla,L.H., Merajver,S.D., Couch,F.J., Friedman,L.S.,
            Ostermeyer,E.A., Lynch,E.D., King,M.C., Welcsh,P.L.,
            Osborne-Lawrence,S., Spillman,M., Bowcock,A.M., Collins,F.S. and
            Weber,B.L.
  TITLE     Characterization of EZH1, a human homolog of Drosophila Enhancer of
            zeste near BRCA1
  JOURNAL   Genomics 37 (2), 161-171 (1996)
   PUBMED   8921387
REFERENCE   7  (bases 1 to 4633)
  AUTHORS   Rommens,J.M., Durocher,F., McArthur,J., Tonin,P., LeBlanc,J.F.,
            Allen,T., Samson,C., Ferri,L., Narod,S., Morgan,K. et al.
  TITLE     Generation of a transcription map at the HSD17B locus centromeric
            to BRCA1 at 17q21
  JOURNAL   Genomics 28 (3), 530-542 (1995)
   PUBMED   7490091
REFERENCE   8  (bases 1 to 4633)
  AUTHORS   Friedman,L.S., Ostermeyer,E.A., Lynch,E.D., Welcsh,P., Szabo,C.I.,
            Meza,J.E., Anderson,L.A., Dowd,P., Lee,M.K., Rowell,S.E. et al.
  TITLE     22 genes from chromosome 17q21: cloning, sequencing, and
            characterization of mutations in breast cancer families and tumors
  JOURNAL   Genomics 25 (1), 256-263 (1995)
   PUBMED   7774926
REFERENCE   9  (bases 1 to 4633)
  AUTHORS   Osborne-Lawrence,S., Welcsh,P.L., Spillman,M.,
            Chandrasekharappa,S.C., Gallardo,T.D., Lovett,M. and Bowcock,A.M.
  TITLE     Direct selection of expressed sequences within a 1-Mb region
            flanking BRCA1 on human chromosome 17q21
  JOURNAL   Genomics 25 (1), 248-255 (1995)
   PUBMED   7774925
REFERENCE   10 (bases 1 to 4633)
  AUTHORS   Brody,L.C., Abel,K.J., Castilla,L.H., Couch,F.J., McKinley,D.R.,
            Yin,G., Ho,P.P., Merajver,S., Chandrasekharappa,S.C., Xu,J. et al.
  TITLE     Construction of a transcription map surrounding the BRCA1 locus of
            human chromosome 17
  JOURNAL   Genomics 25 (1), 238-247 (1995)
   PUBMED   7774924
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC333017.1, AB002386.1 and AL833159.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001991.4.
            
            Summary: EZH1 is a component of a noncanonical Polycomb repressive
            complex-2 (PRC2) that mediates methylation of histone H3 (see MIM
            602812) lys27 (H3K27) and functions in the maintenance of embryonic
            stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed
            19026780]).[supplied by OMIM, Mar 2009].
            
            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 :: BC015882.1, SRR1660807.85875.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000428826.7/ ENSP00000404658.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                DC333017.1         14-45
            33-4318             AB002386.1         1-4286
            4319-4633           AL833159.1         4295-4609
FEATURES             Location/Qualifiers
     source          1..4633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..4633
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /note="enhancer of zeste 1 polycomb repressive complex 2
                     subunit"
                     /db_xref="GeneID:2145"
                     /db_xref="HGNC:HGNC:3526"
                     /db_xref="MIM:601674"
     exon            1..30
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            31..121
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            122..249
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     CDS             133..2376
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /EC_number="2.1.1.356"
                     /note="isoform 1 is encoded by transcript variant 1;
                     histone-lysine N-methyltransferase EZH1; ENX-2; enhancer
                     of zeste homolog 1"
                     /codon_start=1
                     /product="histone-lysine N-methyltransferase EZH1 isoform
                     1"
                     /protein_id="NP_001982.2"
                     /db_xref="CCDS:CCDS32659.1"
                     /db_xref="GeneID:2145"
                     /db_xref="HGNC:HGNC:3526"
                     /db_xref="MIM:601674"
                     /translation="MEIPNPPTSKCITYWKRKVKSEYMRLRQLKRLQANMGAKALYVA
                     NFAKVQEKTQILNEEWKKLRVQPVQSMKPVSGHPFLKKCTIESIFPGFASQHMLMRSL
                     NTVALVPIMYSWSPLQQNFMVEDETVLCNIPYMGDEVKEEDETFIEELINNYDGKVHG
                     EEEMIPGSVLISDAVFLELVDALNQYSDEEEEGHNDTSDGKQDDSKEDLPVTRKRKRH
                     AIEGNKKSSKKQFPNDMIFSAIASMFPENGVPDDMKERYRELTEMSDPNALPPQCTPN
                     IDGPNAKSVQREQSLHSFHTLFCRRCFKYDCFLHPFHATPNVYKRKNKEIKIEPEPCG
                     TDCFLLLEGAKEYAMLHNPRSKCSGRRRRRHHIVSASCSNASASAVAETKEGDSDRDT
                     GNDWASSSSEANSRCQTPTKQKASPAPPQLCVVEAPSEPVEWTGAEESLFRVFHGTYF
                     NNFCSIARLLGTKTCKQVFQFAVKESLILKLPTDELMNPSQKKKRKHRLWAAHCRKIQ
                     LKKDNSSTQVYNYQPCDHPDRPCDSTCPCIMTQNFCEKFCQCNPDCQNRFPGCRCKTQ
                     CNTKQCPCYLAVRECDPDLCLTCGASEHWDCKVVSCKNCSIQRGLKKHLLLAPSDVAG
                     WGTFIKESVQKNEFISEYCGELISQDEADRRGKVYDKYMSSFLFNLNNDFVVDATRKG
                     NKIRFANHSVNPNCYAKVVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI
                     ERETDVL"
     exon            250..378
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            379..498
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            499..619
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            620..796
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            797..899
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            900..1063
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1155
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1336
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1533
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..1625
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..1666
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..1792
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1793..1971
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            1972..2067
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            2068..2149
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            2150..2230
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            2231..2315
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     exon            2316..4633
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4571..4576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /note="hexamer: AATAAA"
     polyA_site      4592
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
     regulatory      4615..4620
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /note="hexamer: AATAAA"
     polyA_site      4633
                     /gene="EZH1"
                     /gene_synonym="KMT6B"
                     /note="major polyA site"
ORIGIN      
        1 agcagcggga cccgcggctc gggatggagg ctggacacct gttctgctgt tgtgtcctgc
       61 cattctcctg aagaacagag gcacactgta aaacccaaca cttccccttg cattctataa
      121 gattacagca agatggaaat accaaatccc cctacctcca aatgtatcac ttactggaaa
      181 agaaaagtga aatctgaata catgcgactt cgacaactta aacggcttca ggcaaatatg
      241 ggtgcaaagg ctttgtatgt ggcaaatttt gcaaaggttc aagaaaaaac ccagatcctc
      301 aatgaagaat ggaagaagct tcgtgtccaa cctgttcagt caatgaagcc tgtgagtgga
      361 cacccttttc tcaaaaagtg taccatagag agcattttcc cgggatttgc aagccaacat
      421 atgttaatga ggtcactgaa cacagttgca ttggttccca tcatgtattc ctggtcccct
      481 ctccaacaga actttatggt agaagatgag acggttttgt gcaatattcc ctacatggga
      541 gatgaagtga aagaagaaga tgagactttt attgaggagc tgatcaataa ctatgatggg
      601 aaagtccatg gtgaagaaga gatgatccct ggatccgttc tgattagtga tgctgttttt
      661 ctggagttgg tcgatgccct gaatcagtac tcagatgagg aggaggaagg gcacaatgac
      721 acctcagatg gaaagcagga tgacagcaaa gaagatctgc cagtaacaag aaagagaaag
      781 cgacatgcta ttgaaggcaa caaaaagagt tccaagaaac agttcccaaa tgacatgatc
      841 ttcagtgcaa ttgcctcaat gttccctgag aatggtgtcc cagatgacat gaaggagagg
      901 tatcgagaac taacagagat gtcagacccc aatgcacttc cccctcagtg cacacccaac
      961 atcgatggcc ccaatgccaa gtctgtgcag cgggagcaat ctctgcactc cttccacaca
     1021 cttttttgcc ggcgctgctt taaatacgac tgcttccttc acccttttca tgccacccct
     1081 aatgtatata aacgcaagaa taaagaaatc aagattgaac cagaaccatg tggcacagac
     1141 tgcttccttt tgctggaagg agcaaaggag tatgccatgc tccacaaccc ccgctccaag
     1201 tgctctggtc gtcgccggag aaggcaccac atagtcagtg cttcctgctc caatgcctca
     1261 gcctctgctg tggctgagac taaagaagga gacagtgaca gggacacagg caatgactgg
     1321 gcctccagtt cttcagaggc taactctcgc tgtcagactc ccacaaaaca gaaggctagt
     1381 ccagccccac ctcaactctg cgtagtggaa gcaccctcgg agcctgtgga atggactggg
     1441 gctgaagaat ctctttttcg agtcttccat ggcacctact tcaacaactt ctgttcaata
     1501 gccaggcttc tggggaccaa gacgtgcaag caggtctttc agtttgcagt caaagaatca
     1561 cttatcctga agctgccaac agatgagctc atgaacccct cacagaagaa gaaaagaaag
     1621 cacagattgt gggctgcaca ctgcaggaag attcagctga agaaagataa ctcttccaca
     1681 caagtgtaca actaccaacc ctgcgaccac ccagaccgcc cctgtgacag cacctgcccc
     1741 tgcatcatga ctcagaattt ctgtgagaag ttctgccagt gcaacccaga ctgtcagaat
     1801 cgtttccctg gctgtcgctg taagacccag tgcaatacca agcaatgtcc ttgctatctg
     1861 gcagtgcgag aatgtgaccc tgacctgtgt ctcacctgtg gggcctcaga gcactgggac
     1921 tgcaaggtgg tttcctgtaa aaactgcagc atccagcgtg gacttaagaa gcacctgctg
     1981 ctggccccct ctgatgtggc cggatggggc accttcataa aggagtctgt gcagaagaac
     2041 gaattcattt ctgaatactg tggtgagctc atctctcagg atgaggctga tcgacgcgga
     2101 aaggtctatg acaaatacat gtccagcttc ctcttcaacc tcaataatga ttttgtagtg
     2161 gatgctactc ggaaaggaaa caaaattcga tttgcaaatc attcagtgaa tcccaactgt
     2221 tatgccaaag tggtcatggt gaatggagac catcggattg ggatctttgc caagagggca
     2281 attcaagctg gcgaagagct cttctttgat tacaggtaca gccaagctga tgctctcaag
     2341 tacgtgggga tcgagaggga gaccgacgtc ctttagccct cccaggcccc acggcagcac
     2401 ttatggtagc ggcactgtct tggctttcgt gctcacacca ctgctgctcg agtctcctgc
     2461 actgtgtctc ccacactgag aaacccccca acccactccc tctgtagtga ggcctctgcc
     2521 atgtccagag ggcacaaaac tgtctcaatg agaggggaga cagaggcagc tagggcttgg
     2581 tctcccagga cagagagtta cagaaatggg agactgtttc tctggcctca gaagaagcga
     2641 gcacaggctg gggtggatga cttatgcgtg atttcgtgtc ggctccccag gctgtggcct
     2701 caggaatcaa cttaggcagt tcccaacaag cgctagcctg taattgtagc tttccacatc
     2761 aagagtcctt atgttattgg gatgcaggca aacctctgtg gtcctaagac ctggagagga
     2821 caggctaagt gaagtgtggt ccctggagcc tacaagtggt ctgggttaga ggcgagcctg
     2881 gcaggcagca cagactgaac tcagaggtag acaggtcacc ttactacctc ctccctcgtg
     2941 gcagggctca aactgaaaga gtgtgggttc taagtacagg cattcaaggc tgggggaagg
     3001 aaagctacgc catccttcct tagccagaga gggagaacca gccagatgat agtagttaaa
     3061 ctgctaagct tgggcccagg aggctttgag aaagccttct ctgtgtactc tggagataga
     3121 tggagaagtg ttttcagatt cctgggaaca gacaccagtg ctccagctcc tccaaagttc
     3181 tggcttagca gctgcaggca agcattatgc tgctattgaa gaagcattag gggtatgcct
     3241 ggcaggtgtg agcatcctgg ctcgctggat ttgtgggtgt tttcaggcct tccattcccc
     3301 atagaggcaa ggcccaatgg ccagtgttgc ttatcgcttc agggtaggtg ggcacaggct
     3361 tggactagag aggagaaaga ttggtgtaat ctgctttcct gtctgtagtg cctgctgttt
     3421 ggaaagggtg agttagaata tgttccaagg ttggtgaggg gctaaattgc acgcgtttag
     3481 gctggcaccc cgtgtgcagg gcacactggc agagggtatc tgaagtggga gaagaagcag
     3541 gtagaccacc tgtcccaggc tgtggtgcca ccctctctgg cattcatgca gagcaaagca
     3601 ctttaaccat ttcttttaaa aggtctatag attggggtag agtttggcct aaggtctcta
     3661 gggtccctgc ctaaatccca ctcctgaggg agggggaaga agagagggtg ggagattctc
     3721 ctccagtcct gtctcatctc ctgggagagg cagacgagtg agtttcacac agaagaattt
     3781 catgtgaatg gggccagcaa gagctgccct gtgtccatgg tgggtgtgcc gggctggctg
     3841 ggaacaagga gcagtatgtt gagtagaaag ggtgtgggcg ggtatagatt ggcctgggag
     3901 tgttacagta gggagcaggc ttctcccttc tttctgggac tcagagcccc gcttcttccc
     3961 actccacttg ttgtcccatg aaggaagaag tggggttcct cctgacccag ctgcctctta
     4021 cggtttggta tgggacatgc acacacactc acatgctctc actcaccaca ctggagggca
     4081 cacacgtacc ccgcacccag caactcctga cagaaagctc ctcccaccca aatgggccag
     4141 gccccagcat gatcctgaaa tctgcatccg ccgtggtttg tattcattgt gcatatcagg
     4201 gataccctca agctggactg tgggttccaa attactcata gaggagaaaa ccagagaaag
     4261 atgaagagga ggagttaggt ctatttgaaa tgccaggggc tcgctgtgag gaataggtga
     4321 aaaaaaactt ttcaccagcc tttgagagac tagactgacc ccacccttcc ttcagtgagc
     4381 agaatcactg tggtcagtct cctgtcccag cttcagttca tgaatactcc tgttcctcca
     4441 gtttcccatc ctttgtccct gctgtccccc acttttaaag atgggtctca acccctcccc
     4501 accacgtcat gatggatggg gcaaggtggt ggggactagg ggagcctggt atacatgcgg
     4561 cttcattgcc aataaatttc atgcacttta aagtcctgtg gcttgtgacc tcttaataaa
     4621 gtgttagaat cca
//
