LOCUS       NM_001388144            2624 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript
            variant 29, mRNA.
ACCESSION   NM_001388144 XM_011526006
VERSION     NM_001388144.1
KEYWORDS    RefSeq.
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 2624)
  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 2624)
  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 2624)
  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 2624)
  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 2624)
  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 2624)
  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 2624)
  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 2624)
  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 2624)
  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 2624)
  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 AC090246.9.
            
            On Oct 19, 2020 this sequence version replaced XM_011526006.2.
            
            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].
            
            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 :: SRR14038195.803367.1,
                                           SRR14038193.3366059.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-161               AC090246.9         10671-10831
            162-296             AC090246.9         12177-12311
            297-411             AC090246.9         14990-15104
            412-578             AC090246.9         15196-15362
            579-661             AC090246.9         15450-15532
            662-702             AC090246.9         15776-15816
            703-849             AC090246.9         16213-16359
            850-978             AC090246.9         16466-16594
            979-1095            AC090246.9         16949-17065
            1096-1164           AC090246.9         17149-17217
            1165-1464           AC090246.9         18331-18630
            1465-1596           AC090246.9         19239-19370
            1597-1658           AC090246.9         19456-19517
            1659-2624           AC090246.9         22383-23348
FEATURES             Location/Qualifiers
     source          1..2624
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..2624
                     /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..1794
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="isoform 12 is encoded by transcript variant 29; 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 12"
                     /protein_id="NP_001375073.1"
                     /db_xref="CCDS:CCDS59319.1"
                     /db_xref="GeneID:4152"
                     /db_xref="HGNC:HGNC:6916"
                     /db_xref="MIM:156535"
                     /translation="MAEDWLDCPALGPGWKRREVFRKSGATCGRSDTYYQSPTGDRIR
                     SKVELTRYLGPACDLTLFDFKQGILCYPAPKAHPVAVASKKRKKPSRPAKTRKRQVGP
                     QSGEVRKEAPRDETKADTDTAPASFPAPGCCENCGISFSGDGTQRQRLKTLCKDCRAQ
                     RIAFNREQRMFKRVGCGECAACQVTEDCGACSTCLLQLPHDVASGLFCKCERRRCLRI
                     VERSRGCGVCRGCQTQEDCGHCPICLRPPRPGLRRQWKCVQRRCLRGKHARRKGGCDS
                     KMAARRRPGAQPLPPPPPSQSPEPTEPHPRALAPSPPAEFIYYCVDEDELKRLLPSVW
                     SESEDGAGSPPPYRRRKRPSSARRHHLGPTLKPTLATRTAQPDHTQAPTKQEAGGGFV
                     LPPPGTDLVFLREGASSPVQVPGPVAASTEALLQAVDPGLPSVKQEPPDPEEDKEENK
                     DDSASKLAPEEEAGGAGTPVITEIFSLGGTRFRDTAVWLPRAGTREGKMDVKCGRPRT
                     QWSPRARAGTHEDGLEPMSVSHHLQLR"
     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..1464
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1596
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..1658
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     exon            1659..2624
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2413..2418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="hexamer: ATTAAA"
     polyA_site      2439
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="major polyA site"
     regulatory      2481..2486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
                     /note="hexamer: AATATA"
     polyA_site      2500
                     /gene="MBD1"
                     /gene_synonym="CXXC3; PCM1; RFT"
     polyA_site      2624
                     /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 gctaaagcgg ctgctgccca gtgtctggtc agagtctgag
     1201 gatggggcag gatcgccccc accttaccgt cgtcgaaaga ggcccagctc tgcccgacgg
     1261 caccatcttg gccctacctt gaagcccacc ttggctacac gcacagccca accagaccat
     1321 acccaggctc caacgaagca ggaagcaggt ggtggctttg tgctgccccc gcctggcact
     1381 gaccttgtgt ttttacggga aggcgcaagc agtcctgtgc aggtgccggg ccctgttgca
     1441 gcttccacag aagccctgtt gcaggcagta gacccaggcc tgccttctgt gaagcaagag
     1501 ccacctgacc cagaggagga caaggaggag aacaaggatg attctgcctc caaattggcc
     1561 ccagaggaag aggcaggagg ggctggcaca cccgtgatca cggagatttt cagcctgggt
     1621 ggaacccgct tccgagatac agcagtctgg ttgccaaggg caggcactcg ggaagggaag
     1681 atggatgtaa agtgtgggag accgaggaca cagtggagcc cacgagcacg agctggaacc
     1741 cacgaggatg gcctggaacc catgtcagtc tctcaccacc tccagcttcg atgatgtggg
     1801 tgtcctgcag aagaagctgg tgcccttcct cacagagtta aatatgcatc tggcccagga
     1861 attagagaag ctgaaaggat gatcctgggg aaggtggagc agctgcaggc ctggctgcag
     1921 gcctgactac tgcccacacc aacgaggtga tctagcagat acatggcaac gtgtgaactg
     1981 caacaacgcc tggtgcccca gcaccaacct tccaagtgta aaaacaatgt gctgctgctt
     2041 cacttccgcc ctccggttat caagcaaaat gtctcttgtg gcccatctta ctggaagaga
     2101 gttccgggaa acatagcctc accaaggtga cacattacaa agccacccta ccatgaatcc
     2161 gctcccaagg gtctcactgc tcacctgagg ataactcaat ataactatgt ggctgaaaat
     2221 gcaaagctga agaccatgga tttcatggtg attccagcaa gtacagagat tctatgaagc
     2281 ccacccagaa aaaacttgct ggtcctggct atttttgtgt catttattca agtattgaga
     2341 acctggcctg tggtaggcac tgtacttaat actaggatac agaaatgcaa aagatacggc
     2401 ccatgcaatt ttattaaatg catcaatatg tattacaaat ggtgaatgga tttccaactt
     2461 tatcatggaa tttaatgctg aatatataga attcagaaaa ttgttgggag gacagccctt
     2521 ttgtgaacct tgtttggggc acagtaggaa ttggaaataa tttagtttct atctctaagc
     2581 tgttctattt taaaattatt tttaaatttt tattgtccca ctta
//
