LOCUS       NM_175867               1384 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens DNA methyltransferase 3 like (DNMT3L), transcript
            variant 2, mRNA.
ACCESSION   NM_175867
VERSION     NM_175867.3
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 1384)
  AUTHORS   Yan,X., Qi,Y., Yao,X., Zhou,N., Ye,X. and Chen,X.
  TITLE     DNMT3L inhibits hepatocellular carcinoma progression through DNA
            methylation of CDO1: insights from big data to basic research
  JOURNAL   J Transl Med 22 (1), 128 (2024)
   PUBMED   38308276
  REMARK    GeneRIF: DNMT3L inhibits hepatocellular carcinoma progression
            through DNA methylation of CDO1: insights from big data to basic
            research.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1384)
  AUTHORS   Laufer,B.I., Gomez,J.A., Jianu,J.M. and LaSalle,J.M.
  TITLE     Stable DNMT3L overexpression in SH-SY5Y neurons recreates a facet
            of the genome-wide Down syndrome DNA methylation signature
  JOURNAL   Epigenetics Chromatin 14 (1), 13 (2021)
   PUBMED   33750431
  REMARK    GeneRIF: Stable DNMT3L overexpression in SH-SY5Y neurons recreates
            a facet of the genome-wide Down syndrome DNA methylation signature.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1384)
  AUTHORS   Fathima,T., Arumugam,P., Girija As,S. and Priyadharsini,J.V.
  TITLE     Decoding the Genetic Alterations in Genes of DNMT Family (DNA
            Methyl-Transferase) and their Association with Head and Neck
            Squamous Cell Carcinoma
  JOURNAL   Asian Pac J Cancer Prev 21 (12), 3605-3612 (2020)
   PUBMED   33369458
  REMARK    GeneRIF: Decoding the Genetic Alterations in Genes of DNMT Family
            (DNA Methyl-Transferase) and their Association with Head and Neck
            Squamous Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1384)
  AUTHORS   Taei,A., Kiani,T., Taghizadeh,Z., Moradi,S., Samadian,A.,
            Mollamohammadi,S., Sharifi-Zarchi,A., Guenther,S., Akhlaghpour,A.,
            Asgari Abibeiglou,B., Najar-Asl,M., Karamzadeh,R., Khalooghi,K.,
            Braun,T., Hassani,S.N. and Baharvand,H.
  TITLE     Temporal activation of LRH-1 and RAR-gamma in human pluripotent
            stem cells induces a functional naive-like state
  JOURNAL   EMBO Rep 21 (10), e47533 (2020)
   PUBMED   33252195
REFERENCE   5  (bases 1 to 1384)
  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   6  (bases 1 to 1384)
  AUTHORS   Deplus,R., Brenner,C., Burgers,W.A., Putmans,P., Kouzarides,T., de
            Launoit,Y. and Fuks,F.
  TITLE     Dnmt3L is a transcriptional repressor that recruits histone
            deacetylase
  JOURNAL   Nucleic Acids Res 30 (17), 3831-3838 (2002)
   PUBMED   12202768
REFERENCE   7  (bases 1 to 1384)
  AUTHORS   Aapola,U., Liiv,I. and Peterson,P.
  TITLE     Imprinting regulator DNMT3L is a transcriptional repressor
            associated with histone deacetylase activity
  JOURNAL   Nucleic Acids Res 30 (16), 3602-3608 (2002)
   PUBMED   12177302
REFERENCE   8  (bases 1 to 1384)
  AUTHORS   Burgers,W.A., Fuks,F. and Kouzarides,T.
  TITLE     DNA methyltransferases get connected to chromatin
  JOURNAL   Trends Genet 18 (6), 275-277 (2002)
   PUBMED   12044346
REFERENCE   9  (bases 1 to 1384)
  AUTHORS   Hata,K., Okano,M., Lei,H. and Li,E.
  TITLE     Dnmt3L cooperates with the Dnmt3 family of de novo DNA
            methyltransferases to establish maternal imprints in mice
  JOURNAL   Development 129 (8), 1983-1993 (2002)
   PUBMED   11934864
REFERENCE   10 (bases 1 to 1384)
  AUTHORS   Aapola,U., Kawasaki,K., Scott,H.S., Ollila,J., Vihinen,M.,
            Heino,M., Shintani,A., Kawasaki,K., Minoshima,S., Krohn,K.,
            Antonarakis,S.E., Shimizu,N., Kudoh,J. and Peterson,P.
  TITLE     Isolation and initial characterization of a novel zinc finger gene,
            DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3
            gene family
  JOURNAL   Genomics 65 (3), 293-298 (2000)
   PUBMED   10857753
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF194032.1, BC002560.2 and
            BQ028660.1.
            
            On Aug 31, 2019 this sequence version replaced NM_175867.2.
            
            Summary: CpG methylation is an epigenetic modification that is
            important for embryonic development, imprinting, and X-chromosome
            inactivation. Studies in mice have demonstrated that DNA
            methylation is required for mammalian development. This gene
            encodes a nuclear protein with similarity to DNA
            methyltransferases, but is not thought to function as a DNA
            methyltransferase as it does not contain the amino acid residues
            necessary for methyltransferase activity. However, it does
            stimulate de novo methylation by DNA cytosine methyltransferase 3
            alpha and is thought to be required for the establishment of
            maternal genomic imprints. This protein also mediates
            transcriptional repression through interaction with histone
            deacetylase 1. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2012].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            acceptor splice site at the 3' terminal exon compared to variant 1,
            which results in an isoform (2) that is 1 aa shorter than 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 :: BC002560.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2144333 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000628202.3/ ENSP00000486001.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AF194032.1         320-326
            8-996               BC002560.2         1-989
            997-1160            AF194032.1         1316-1479
            1161-1371           BC002560.2         1154-1364
            1372-1384           BQ028660.1         18-30               c
FEATURES             Location/Qualifiers
     source          1..1384
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..1384
                     /gene="DNMT3L"
                     /note="DNA methyltransferase 3 like"
                     /db_xref="GeneID:29947"
                     /db_xref="HGNC:HGNC:2980"
                     /db_xref="MIM:606588"
     exon            1..158
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            159..271
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     CDS             166..1326
                     /gene="DNMT3L"
                     /note="isoform 2 is encoded by transcript variant 2; human
                     cytosine-5-methyltransferase 3-like protein; DNA
                     (cytosine-5-)-methyltransferase 3-like"
                     /codon_start=1
                     /product="DNA (cytosine-5)-methyltransferase 3-like
                     isoform 2"
                     /protein_id="NP_787063.1"
                     /db_xref="CCDS:CCDS46650.1"
                     /db_xref="GeneID:29947"
                     /db_xref="HGNC:HGNC:2980"
                     /db_xref="MIM:606588"
                     /translation="MAAIPALDPEAEPSMDVILVGSSELSSSVSPGTGRDLIAYEVKA
                     NQRNIEDICICCGSLQVHTQHPLFEGGICAPCKDKFLDALFLYDDDGYQSYCSICCSG
                     ETLLICGNPDCTRCYCFECVDSLVGPGTSGKVHAMSNWVCYLCLPSSRSGLLQRRRKW
                     RSQLKAFYDRESENPLEMFETVPVWRRQPVRVLSLFEDIKKELTSLGFLESGSDPGQL
                     KHVVDVTDTVRKDVEEWGPFDLVYGATPPLGHTCDRPPSWYLFQFHRLLQYARPKPGS
                     PRPFFWMFVDNLVLNKEDLDVASRFLEMEPVTIPDVHGGSLQNAVRVWSNIPAIRSRH
                     WALVSEEELSLLAQNKQSSKLAAKWPTKLVKNCFLPLREYFKYFSTELTSSL"
     exon            272..316
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            317..396
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            397..509
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            510..681
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            682..769
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            770..858
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            859..934
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1074
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1160
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1384
                     /gene="DNMT3L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1365..1370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNMT3L"
                     /note="hexamer: AACAAA"
     polyA_site      1384
                     /gene="DNMT3L"
                     /note="major polyA site"
ORIGIN      
        1 gtcccaggtg ggcctggatc cttccagctc attctttgcc tgcgccgtcc ctcgttccat
       61 ggcccagtcc tccccgggga ccctgagcct ggaagccccg gaccactgga accttgaacc
      121 caccagctgg ctgtacccgg agccgtggca gcagccctca tccccatggc ggccatccca
      181 gccctggacc cagaggccga gcccagcatg gacgtgattt tggtgggatc cagtgagctc
      241 tcaagctccg tttcacccgg gacaggcaga gatcttattg catatgaagt caaggctaac
      301 cagcgaaata tagaagacat ctgcatctgc tgcggaagtc tccaggttca cacacagcac
      361 cctctgtttg agggagggat ctgcgcccca tgtaaggaca agttcctgga tgccctcttc
      421 ctgtacgacg atgacgggta ccaatcctac tgctccatct gctgctccgg agagacgctg
      481 ctcatctgcg gaaaccctga ttgcacccga tgctactgct tcgagtgtgt ggatagcctg
      541 gtcggccccg ggacctcggg gaaggtgcac gccatgagca actgggtgtg ctacctgtgc
      601 ctgccgtcct cccgaagcgg gctgctgcag cgtcggagga agtggcgcag ccagctcaag
      661 gccttctacg accgagagtc ggagaatccc cttgagatgt tcgaaaccgt gcctgtgtgg
      721 aggagacagc cagtccgggt gctgtccctt tttgaagaca tcaagaaaga gctgacgagt
      781 ttgggctttt tggaaagtgg ttctgacccg ggacaactga agcatgtggt tgatgtcaca
      841 gacacagtga ggaaggatgt ggaggagtgg ggacccttcg atcttgtgta cggcgccaca
      901 cctcccctgg gccacacctg tgaccgtcct cccagctggt acctgttcca gttccaccgg
      961 ctcctgcagt acgcacggcc caagccaggc agccccaggc ccttcttctg gatgttcgtg
     1021 gacaatctgg tgctgaacaa ggaagacctg gacgtcgcat ctcgcttcct ggagatggag
     1081 ccagtcacca tcccagatgt ccacggcgga tccttgcaga atgctgtccg cgtgtggagc
     1141 aacatcccag ccataaggag caggcactgg gctctggttt cggaagaaga attgtccctg
     1201 ctggcccaga acaagcagag ctcgaagctc gcggccaagt ggcccaccaa gctggtgaag
     1261 aactgctttc tccccctaag agaatatttc aagtattttt caacagaact cacttcctct
     1321 ttataaatga gtcactatac tgtgaagaaa aagacttttc ctagaacaaa ggcaactttc
     1381 ctca
//
