LOCUS       NM_015846               3009 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript
            variant 1, mRNA.
ACCESSION   NM_015846
VERSION     NM_015846.4
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 3009)
  AUTHORS   Xu,W.Y., Hu,Q.S., Qin,Y., Zhang,B., Liu,W.S., Ni,Q.X., Xu,J. and
            Yu,X.J.
  TITLE     Zinc finger E-box-binding homeobox 1 mediates aerobic glycolysis
            via suppression of sirtuin 3 in pancreatic cancer
  JOURNAL   World J Gastroenterol 24 (43), 4893-4905 (2018)
   PUBMED   30487699
  REMARK    GeneRIF: ZEB1 silenced SIRT3 expression via interaction with MBD1
            to promote aerobic glycolysis in pancreatic cancer.
REFERENCE   2  (bases 1 to 3009)
  AUTHORS   Xu,C., Liu,K., Lei,M., Yang,A., Li,Y., Hughes,T.R. and Min,J.
  TITLE     DNA Sequence Recognition of Human CXXC Domains and Their Structural
            Determinants
  JOURNAL   Structure 26 (1), 85-95 (2018)
   PUBMED   29276034
REFERENCE   3  (bases 1 to 3009)
  AUTHORS   Zhang,P., Rausch,C., Hastert,F.D., Boneva,B., Filatova,A.,
            Patil,S.J., Nuber,U.A., Gao,Y., Zhao,X. and Cardoso,M.C.
  TITLE     Methyl-CpG binding domain protein 1 regulates localization and
            activity of Tet1 in a CXXC3 domain-dependent manner
  JOURNAL   Nucleic Acids Res 45 (12), 7118-7136 (2017)
   PUBMED   28449087
  REMARK    GeneRIF: MBD1 regulates localization and activity of Tet1 in a
            CXXC3 domain-dependent manner.
REFERENCE   4  (bases 1 to 3009)
  AUTHORS   Qi,L. and Ding,Y.
  TITLE     Screening of Tumor Suppressor Genes in Metastatic Colorectal Cancer
  JOURNAL   Biomed Res Int 2017, 2769140 (2017)
   PUBMED   28473981
  REMARK    GeneRIF: MBD1 may be a tumor suppressor gene in advanced colorectal
            cancer (CRC)and affect the development and metastasis of CRC by
            regulating 8 tumor suppressor genes through binding with SP1.
REFERENCE   5  (bases 1 to 3009)
  AUTHORS   Ohki,I., Shimotake,N., Fujita,N., Nakao,M. and Shirakawa,M.
  TITLE     Solution structure of the methyl-CpG-binding domain of the
            methylation-dependent transcriptional repressor MBD1
  JOURNAL   EMBO J 18 (23), 6653-6661 (1999)
   PUBMED   10581239
REFERENCE   6  (bases 1 to 3009)
  AUTHORS   Fujita,N., Takebayashi,S., Okumura,K., Kudo,S., Chiba,T., Saya,H.
            and Nakao,M.
  TITLE     Methylation-mediated transcriptional silencing in euchromatin by
            methyl-CpG binding protein MBD1 isoforms
  JOURNAL   Mol Cell Biol 19 (9), 6415-6426 (1999)
   PUBMED   10454587
REFERENCE   7  (bases 1 to 3009)
  AUTHORS   Hendrich,B., Abbott,C., McQueen,H., Chambers,D., Cross,S. and
            Bird,A.
  TITLE     Genomic structure and chromosomal mapping of the murine and human
            Mbd1, Mbd2, Mbd3, and Mbd4 genes
  JOURNAL   Mamm Genome 10 (9), 906-912 (1999)
   PUBMED   10441743
REFERENCE   8  (bases 1 to 3009)
  AUTHORS   Ueba,T., Kaspar,B., Zhao,X. and Gage,F.H.
  TITLE     Repression of human fibroblast growth factor 2 by a novel
            transcription factor
  JOURNAL   J Biol Chem 274 (15), 10382-10387 (1999)
   PUBMED   10187827
REFERENCE   9  (bases 1 to 3009)
  AUTHORS   Hendrich,B. and Bird,A.
  TITLE     Identification and characterization of a family of mammalian
            methyl-CpG binding proteins
  JOURNAL   Mol Cell Biol 18 (11), 6538-6547 (1998)
   PUBMED   9774669
REFERENCE   10 (bases 1 to 3009)
  AUTHORS   Cross,S.H., Meehan,R.R., Nan,X. and Bird,A.
  TITLE     A component of the transcriptional repressor MeCP1 shares a motif
            with DNA methyltransferase and HRX proteins
  JOURNAL   Nat Genet 16 (3), 256-259 (1997)
   PUBMED   9207790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC403953.1, BC033242.1,
            AK225889.1, AJ564845.1 and AK225948.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 14, 2020 this sequence version replaced NM_015846.3.
            
            Summary: The protein encoded by this gene is a member of a family
            of nuclear proteins related by the presence of a methyl-CpG binding
            domain (MBD). These proteins are capable of binding specifically to
            methylated DNA, and some members can also repress transcription
            from methylated gene promoters. This protein contains multiple
            domains: MBD at the N-terminus that functions both in binding to
            methylated DNA and in protein interactions; several CXXC-type zinc
            finger domains that mediate binding to non-methylated CpG
            dinucleotides; transcriptional repression domain (TRD) at the
            C-terminus that is involved in transcription repression and in
            protein interactions. Numerous alternatively spliced transcript
            variants encoding different isoforms have been noted for this
            gene.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes isoform 1. Variants 1 and 14 encode the
            same isoform.
            
            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 :: SRR18074968.3968318.1,
                                           SRR18074969.1875564.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269468.10/ ENSP00000269468.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                DC403953.1         245-267
            24-1164             BC033242.1         1-1141
            1165-1332           AK225889.1         1326-1493
            1333-2595           BC033242.1         1142-2404
            2596-2715           AJ564845.1         2544-2663
            2716-2817           BC033242.1         2525-2626
            2818-3009           AK225948.1         2199-2390
FEATURES             Location/Qualifiers
     source          1..3009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..3009
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="methyl-CpG binding domain protein 1"
                     /db_xref="GeneID:4152"
                     /db_xref="HGNC:HGNC:6916"
                     /db_xref="MIM:156535"
     exon            1..161
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            162..296
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     CDS             187..2004
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="isoform 1 is encoded by transcript variant 1; the
                     regulator of fibroblast growth factor 2 (FGF-2)
                     transcription; CXXC-type zinc finger protein 3; protein
                     containing methyl-CpG-binding domain 1; protein containing
                     MBD 1"
                     /codon_start=1
                     /product="methyl-CpG-binding domain protein 1 isoform 1"
                     /protein_id="NP_056671.2"
                     /db_xref="CCDS:CCDS11943.1"
                     /db_xref="GeneID:4152"
                     /db_xref="HGNC:HGNC:6916"
                     /db_xref="MIM:156535"
                     /translation="MAEDWLDCPALGPGWKRREVFRKSGATCGRSDTYYQSPTGDRIR
                     SKVELTRYLGPACDLTLFDFKQGILCYPAPKAHPVAVASKKRKKPSRPAKTRKRQVGP
                     QSGEVRKEAPRDETKADTDTAPASFPAPGCCENCGISFSGDGTQRQRLKTLCKDCRAQ
                     RIAFNREQRMFKRVGCGECAACQVTEDCGACSTCLLQLPHDVASGLFCKCERRRCLRI
                     VERSRGCGVCRGCQTQEDCGHCPICLRPPRPGLRRQWKCVQRRCLRGKHARRKGGCDS
                     KMAARRRPGAQPLPPPPPSQSPEPTEPHPRALAPSPPAEFIYYCVDEDELQPYTNRRQ
                     NRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAMKRLLPSVWSE
                     SEDGAGSPPPYRRRKRPSSARRHHLGPTLKPTLATRTAQPDHTQAPTKQEAGGGFVLP
                     PPGTDLVFLREGASSPVQVPGPVAASTEALLQEAQCSGLSWVVALPQVKQEKADTQDE
                     WTPGTAVLTSPVLVPGCPSKAVDPGLPSVKQEPPDPEEDKEENKDDSASKLAPEEEAG
                     GAGTPVITEIFSLGGTRFRDTAVWLPRSKDLKKPGARKQ"
     exon            297..411
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            412..578
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            579..661
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            662..702
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            703..849
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            850..978
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1095
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1164
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1332
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1632
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1633..1770
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1771..1902
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1903..1964
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1965..2036
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            2037..3009
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2798..2803
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="hexamer: ATTAAA"
     polyA_site      2824
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="major polyA site"
     regulatory      2866..2871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="hexamer: AATATA"
     polyA_site      2885
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
     polyA_site      3009
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="major polyA site"
ORIGIN      
        1 gggagcaacg aacagccgcg gaggcgacag ctaccgcttc agaggaggcg gccgcggagg
       61 aggaggaagg ggaggagggc gaggcgggag gtgcaggagg gaccctcgcc atgggtccac
      121 gggcctagag tggcggaaga taccggcctg gtgccaaact ggctactgct gcttcctgtg
      181 gcctccatgg ctgaggactg gctggactgc ccggccctgg gccctggctg gaagcgccgc
      241 gaagtctttc gcaagtcagg ggccacctgt ggacgctcag acacctatta ccagagcccc
      301 acaggagaca ggatccgaag caaagttgag ctgactcgat acctgggccc tgcgtgtgat
      361 ctcaccctct tcgacttcaa acaaggcatc ttgtgctatc cagcccccaa ggcccatccc
      421 gtggcggttg ccagcaagaa gcgaaagaag ccttcaaggc cagccaagac tcggaaacgt
      481 caggttggac cccagagtgg tgaggtcagg aaggaggccc cgagggatga gaccaaggct
      541 gacactgaca cagccccagc ttcattccct gctcctgggt gctgtgagaa ctgtggaatc
      601 agcttctcag gggatggcac ccaaaggcag cggctcaaaa cgttgtgcaa agactgtcga
      661 gcacagagaa ttgccttcaa ccgggaacag agaatgttta agcgtgtggg ctgtggggag
      721 tgtgcagcct gccaggtaac agaagactgt ggggcctgct ccacctgcct cctgcagctg
      781 ccccatgatg tggcatcggg gctgttctgc aagtgtgaac ggagacgctg cctccggatt
      841 gtggaaagga gccgagggtg tggagtatgc cggggctgtc agacccaaga ggattgtggc
      901 cattgcccca tctgccttcg ccctccccgc cctggtctca ggcgccagtg gaaatgtgtc
      961 cagcgacgtt gcctacgggg taaacatgcc cgccgcaagg gaggctgtga ctccaagatg
     1021 gctgccaggc ggcgccccgg agcccagcca ctgcctccac cacccccatc acagtcccca
     1081 gagcccacag agccgcaccc cagagccctg gccccctcgc cacctgccga gttcatctat
     1141 tactgtgtag acgaggacga gctacagccc tacacgaacc gccggcagaa ccgcaagtgc
     1201 ggggcctgtg cagcctgcct acggcggatg gactgtggcc gctgcgactt ctgctgcgac
     1261 aagcccaaat tcgggggcag caaccagaag cgccagaagt gtcgttggcg ccaatgcctg
     1321 cagtttgcca tgaagcggct gctgcccagt gtctggtcag agtctgagga tggggcagga
     1381 tcgcccccac cttaccgtcg tcgaaagagg cccagctctg cccgacggca ccatcttggc
     1441 cctaccttga agcccacctt ggctacacgc acagcccaac cagaccatac ccaggctcca
     1501 acgaagcagg aagcaggtgg tggctttgtg ctgcccccgc ctggcactga ccttgtgttt
     1561 ttacgggaag gcgcaagcag tcctgtgcag gtgccgggcc ctgttgcagc ttccacagaa
     1621 gccctgttgc aggaggccca gtgctctggc ctgagttggg ttgtggcctt accccaggtg
     1681 aagcaagaga aggcggatac ccaggacgag tggacaccag gcacagctgt cctgacttct
     1741 cccgtattgg tgcctggctg ccctagcaag gcagtagacc caggcctgcc ttctgtgaag
     1801 caagagccac ctgacccaga ggaggacaag gaggagaaca aggatgattc tgcctccaaa
     1861 ttggccccag aggaagaggc aggaggggct ggcacacccg tgatcacgga gattttcagc
     1921 ctgggtggaa cccgcttccg agatacagca gtctggttgc caaggtccaa agaccttaaa
     1981 aaacctggag ctagaaagca gtagactgga ggcttctaca gactgtagga ttcaagtctg
     2041 cagggcaggc actcgggaag ggaagatgga tgtaaagtgt gggagaccga ggacacagtg
     2101 gagcccacga gcacgagctg gaacccacga ggatggcctg gaacccatgt cagtctctca
     2161 ccacctccag cttcgatgat gtgggtgtcc tgcagaagaa gctggtgccc ttcctcacag
     2221 agttaaatat gcatctggcc caggaattag agaagctgaa aggatgatcc tggggaaggt
     2281 ggagcagctg caggcctggc tgcaggcctg actactgccc acaccaacga ggtgatctag
     2341 cagatacatg gcaacgtgtg aactgcaaca acgcctggtg ccccagcacc aaccttccaa
     2401 gtgtaaaaac aatgtgctgc tgcttcactt ccgccctccg gttatcaagc aaaatgtctc
     2461 ttgtggccca tcttactgga agagagttcc gggaaacata gcctcaccaa ggtgacacat
     2521 tacaaagcca ccctaccatg aatccgctcc caagggtctc actgctcacc tgaggataac
     2581 tcaatataac tatgtggctg aaaatgcaaa gctgaagacc atggatttca tggtgattcc
     2641 agcaagtaca gagattctat gaagcccacc cagaaaaaac ttgctggtcc tggctatttt
     2701 tgtgtcattt attcaagtat tgagaacctg gcctgtggta ggcactgtac ttaatactag
     2761 gatacagaaa tgcaaaagat acggcccatg caattttatt aaatgcatca atatgtatta
     2821 caaatggtga atggatttcc aactttatca tggaatttaa tgctgaatat atagaattca
     2881 gaaaattgtt gggaggacag cccttttgtg aaccttgttt ggggcacagt aggaattgga
     2941 aataatttag tttctatctc taagctgttc tattttaaaa ttatttttaa atttttattg
     3001 tcccactta
//
