LOCUS       NM_052897               4202 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.
ACCESSION   NM_052897
VERSION     NM_052897.4
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 4202)
  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   2  (bases 1 to 4202)
  AUTHORS   Liang,M.R., Zeng,Y., Zeng,S.Y., Zhang,J.W., Yang,B.C., Zhang,Z.Y.,
            Liu,F.Y., Luo,Y., Zou,Y., Wang,F. and Huang,O.P.
  TITLE     The Expression of MBD6 Is Associated with Tumor Size in Uterine
            Leiomyomas
  JOURNAL   Genet Test Mol Biomarkers 23 (8), 523-532 (2019)
   PUBMED   31313936
  REMARK    GeneRIF: The decreased expression of the MBD6 protein was
            correlated with the tumor size of uterine leiomyomas
REFERENCE   3  (bases 1 to 4202)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 4202)
  AUTHORS   Kumar,R., Arioz,C., Li,Y., Bosaeus,N., Rocha,S. and
            Wittung-Stafshede,P.
  TITLE     Disease-causing point-mutations in metal-binding domains of Wilson
            disease protein decrease stability and increase structural dynamics
  JOURNAL   Biometals 30 (1), 27-35 (2017)
   PUBMED   27744583
  REMARK    GeneRIF: Our findings imply that reduced stability and enhanced
            dynamics of MBD1 or MBD6 is the origin of ATP7B dysfunction in
            Wilson disease patients with the G85V or G591D mutation.
REFERENCE   5  (bases 1 to 4202)
  AUTHORS   Choi,Y.J., Yoo,N.J. and Lee,S.H.
  TITLE     Mutation and expression of a methyl-binding protein 6 (MBD6) in
            gastric and colorectal cancers
  JOURNAL   Pathol Oncol Res 21 (3), 857-858 (2015)
   PUBMED   25638327
  REMARK    GeneRIF: Frameshift mutations of MBD6 gene is associated with
            stomach and colorectal cancers.
REFERENCE   6  (bases 1 to 4202)
  AUTHORS   Baymaz,H.I., Fournier,A., Laget,S., Ji,Z., Jansen,P.W., Smits,A.H.,
            Ferry,L., Mensinga,A., Poser,I., Sharrocks,A., Defossez,P.A. and
            Vermeulen,M.
  TITLE     MBD5 and MBD6 interact with the human PR-DUB complex through their
            methyl-CpG-binding domain
  JOURNAL   Proteomics 14 (19), 2179-2189 (2014)
   PUBMED   24634419
  REMARK    GeneRIF: We studied and showed that both MBD5 and MBD6 interact
            with the mammalian PR-DUB Polycomb protein complex in a mutually
            exclusive manner, and that the MBD of MBD5 and MBD6 is both
            necessary and sufficient to mediate this interaction.
REFERENCE   7  (bases 1 to 4202)
  AUTHORS   Jung,J.S., Jee,M.K., Cho,H.T., Choi,J.I., Im,Y.B., Kwon,O.H. and
            Kang,S.K.
  TITLE     MBD6 is a direct target of Oct4 and controls the stemness and
            differentiation of adipose tissue-derived stem cells
  JOURNAL   Cell Mol Life Sci 70 (4), 711-728 (2013)
   PUBMED   23052207
  REMARK    GeneRIF: MBD6 is regulated by Ago2 via an interaction with Oct4,
            which alters self-renewal and gene expression in human adipose
            tissue-derived stem cells.
REFERENCE   8  (bases 1 to 4202)
  AUTHORS   Cukier,H.N., Lee,J.M., Ma,D., Young,J.I., Mayo,V., Butler,B.L.,
            Ramsook,S.S., Rantus,J.A., Abrams,A.J., Whitehead,P.L.,
            Wright,H.H., Abramson,R.K., Haines,J.L., Cuccaro,M.L.,
            Pericak-Vance,M.A. and Gilbert,J.R.
  TITLE     The expanding role of MBD genes in autism: identification of a
            MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1
  JOURNAL   Autism Res 5 (6), 385-397 (2012)
   PUBMED   23055267
  REMARK    GeneRIF: This study demonstrates examples of autistic patients
            carrying alterations in MBD6.
REFERENCE   9  (bases 1 to 4202)
  AUTHORS   Laget,S., Joulie,M., Le Masson,F., Sasai,N., Christians,E.,
            Pradhan,S., Roberts,R.J. and Defossez,P.A.
  TITLE     The human proteins MBD5 and MBD6 associate with heterochromatin but
            they do not bind methylated DNA
  JOURNAL   PLoS One 5 (8), e11982 (2010)
   PUBMED   20700456
  REMARK    GeneRIF: MBD5 and MBD6 are unlikely to be methyl-binding proteins,
            yet they may contribute to the formation or function of
            heterochromatin.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 4202)
  AUTHORS   Roloff,T.C., Ropers,H.H. and Nuber,U.A.
  TITLE     Comparative study of methyl-CpG-binding domain proteins
  JOURNAL   BMC Genomics 4 (1), 1 (2003)
   PUBMED   12529184
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022506.38, AK056399.1 and AB067474.1.
            
            On Nov 22, 2018 this sequence version replaced NM_052897.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC065530.1, SRR7346977.1800739.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355673.8/ ENSP00000347896.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                AC022506.38        85211-85262         c
            53-665              AK056399.1         35-647
            666-4202            AB067474.1         283-3819
FEATURES             Location/Qualifiers
     source          1..4202
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..4202
                     /gene="MBD6"
                     /note="methyl-CpG binding domain protein 6"
                     /db_xref="GeneID:114785"
                     /db_xref="HGNC:HGNC:20445"
                     /db_xref="MIM:619458"
     exon            1..188
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            189..252
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            253..389
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     CDS             277..3288
                     /gene="MBD6"
                     /note="methyl-CpG-binding protein MBD6"
                     /codon_start=1
                     /product="methyl-CpG-binding domain protein 6"
                     /protein_id="NP_443129.3"
                     /db_xref="CCDS:CCDS8944.1"
                     /db_xref="GeneID:114785"
                     /db_xref="HGNC:HGNC:20445"
                     /db_xref="MIM:619458"
                     /translation="MNGGNESSGADRAGGPVATSVPIGWQRCVREGAVLYISPSGTEL
                     SSLEQTRSYLLSDGTCKCGLECPLNVPKVFNFDPLAPVTPGGAGVGPASEEDMTKLCN
                     HRRKAVAMATLYRSMETTCSHSSPGEGASPQMFHTVSPGPPSARPPCRVPPTTPLNGG
                     PGSLPPEPPSVSQAFPTLAGPGGLFPPRLADPVPSGGSSSPRFLPRGNAPSPAPPPPP
                     AISLNAPSYNWGAALRSSLVPSDLGSPPAPHASSSPPSDPPLFHCSDALTPPPLPPSN
                     NLPAHPGPASQPPVSSATMHLPLVLGPLGGAPTVEGPGAPPFLASSLLSAAAKAQHPP
                     LPPPSTLQGRRPRAQAPSASHSSSLRPSQRRPRRPPTVFRLLEGRGPQTPRRSRPRAP
                     APVPQPFSLPEPSQPILPSVLSLLGLPTPGPSHSDGSFNLLGSDAHLPPPPTLSSGSP
                     PQPRHPIQPSLPGTTSGSLSSVPGAPAPPAASKAPVVPSPVLQSPSEGLGMGAGPACP
                     LPPLAGGEAFPFPSPEQGLALSGAGFPGMLGALPLPLSLGQPPPSPLLNHSLFGVLTG
                     GGGQPPPEPLLPPPGGPGPPLAPGEPEGPSLLVASLLPPPPSDLLPPPSAPPSNLLAS
                     FLPLLALGPTAGDGEGSAEGAGGPSGEPFSGLGDLSPLLFPPLSAPPTLIALNSALLA
                     ATLDPPSGTPPQPCVLSAPQPGPPTSSVTTATTDPGASSLGKAPSNSGRPPQLLSPLL
                     GASLLGDLSSLTSSPGALPSLLQPPGPLLSGQLGLQLLPGGGAPPPLSEASSPLACLL
                     QSLQIPPEQPEAPCLPPESPASALEPEPARPPLSALAPPHGSPDPPVPELLTGRGSGK
                     RGRRGGGGLRGINGEARPARGRKPGSRREPGRLALKWGTRGGFNGQMERSPRRTHHWQ
                     HNGELAEGGAEPKDPPPPGPHSEDLKVPPGVVRKSRRGRRRKYNPTRNSNSSRQDITL
                     EPSPTARAAVPLPPRARPGRPAKNKRRKLAP"
     exon            390..492
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            493..655
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            656..1696
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            1697..2358
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            2359..2512
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            2513..2682
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            2683..3096
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            3097..3149
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            3150..3213
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     exon            3214..4202
                     /gene="MBD6"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      4202
                     /gene="MBD6"
                     /note="major polyA site"
ORIGIN      
        1 ccctggcccc catggcgcat gcgcgggagg ccgctcggtg atccgcggcg gcggcagcgg
       61 cgcttcctgc taggaccggc cggggccgta ccggaggctc gggctccacc gaccctcctc
      121 ccaccccctc ccactcaccc tctgggccgc gactgcgcag ggcggggccg gccgaaccat
      181 gggccgcggt gtgggctaag ctggtggccc cggctttaga ctggacccca caatgtttgc
      241 agagatgttc aggcacgcgg gagctgatta cacacaatga atgggggcaa tgagagcagt
      301 ggagcagaca gagctggggg ccctgtggcc acatctgtcc ccatcggctg gcagcgctgt
      361 gtgcgagagg gtgctgtgct ctacatcagt ccaagtggca cagagctgtc ttccttggag
      421 caaacccgga gctacctcct cagcgatggg acctgcaagt gcggtctgga gtgtccactt
      481 aatgtcccca aggttttcaa ctttgaccct ttggccccgg tgaccccggg tggggctggg
      541 gtggggccag catcagagga ggacatgacc aagctgtgca accaccggcg gaaagctgtt
      601 gctatggcaa ctctgtaccg cagcatggag accacctgct cacactcttc tcctggagag
      661 ggagcgagcc cccaaatgtt ccacactgtg tccccagggc ccccctctgc ccgccctccc
      721 tgtcgagttc ctcctacaac tccacttaat gggggtcctg gctcccttcc cccagaacca
      781 ccctcagttt cccaggcctt tcccactcta gcaggccctg gggggctttt ccccccaagg
      841 cttgctgacc cagtcccttc tgggggcagt agcagccccc gtttcctccc aaggggcaat
      901 gccccctctc cagccccacc tcctccacct gctatcagcc tcaatgctcc ctcatacaac
      961 tggggagctg ccctcagatc cagcctggtg ccctctgacc tgggctctcc tccggcccct
     1021 catgcctcct cctcaccacc ttcagaccct cctctcttcc actgtagtga tgccttaaca
     1081 ccccctcccc tgcccccgag caataatctc cccgcccacc ctggtcctgc ctctcagcca
     1141 ccagtgtctt cagccactat gcacctgccc ctggtcctgg ggcccctggg aggggccccc
     1201 acggtggagg ggcctggggc accccccttc cttgctagca gcctactctc tgcagcggcc
     1261 aaggcacagc atcccccact accccctccc agcactttac agggccgaag gccccgtgcc
     1321 caggcaccct cagcttccca ctcctcatca cttcgtccct ctcagcgtcg tccccgcaga
     1381 ccccctactg tatttcgatt gctagaaggg agaggccctc aaacccctag acggagccgt
     1441 cctcgggccc ctgctcctgt cccccaaccc ttttctctcc cggagccatc ccaaccaatt
     1501 ctcccttctg tgctgtccct gctgggactc cccacccctg gcccttccca ctctgatgga
     1561 agctttaacc ttttggggtc agatgcacac cttcctcctc ccccaaccct ctcctcaggg
     1621 agccctcccc agcccaggca ccccatccag ccctccctgc ctgggaccac cagtggcagc
     1681 ctcagcagtg tgccaggtgc ccctgcccca ccagctgcct ccaaagcccc agtagtcccc
     1741 agccctgtgc ttcaaagccc atccgaagga ctggggatgg gggcaggccc ggcctgccct
     1801 ctgcctcccc tggctggtgg agaggctttc cctttcccca gccctgagca gggcctggca
     1861 ctgagtggag ctggcttccc tgggatgctt ggggccttgc ctctccctct gagtctgggg
     1921 cagcctccac cttctccatt gctcaaccac agtttatttg gtgtgctgac tgggggagga
     1981 ggacaacctc cccctgagcc cctgctaccc ccaccaggag gacctggtcc tcccctagcc
     2041 ccaggagagc ctgaagggcc ttcgcttttg gtggcttcct tgcttcctcc accaccctca
     2101 gaccttcttc cacctccttc agcacctccc agcaacctcc ttgcctcttt cctgcccctg
     2161 ttggctctgg gccccacagc tggggatggg gagggatctg cagagggagc cgggggtcca
     2221 agtggggagc cattttcagg cttgggagac ctgtcccccc tacttttccc cccactttca
     2281 gcccccccta ccctcatagc tttaaattct gcgctgctgg ctgccaccct ggatcccccc
     2341 tcggggacac ccccccagcc ctgtgtcctg agtgcccccc aacctggacc acctacctcc
     2401 agtgtcacca cggcaactac tgacccgggg gcctcctctc tgggcaaggc cccctccaac
     2461 tcagggagac ccccccaact ccttagccct ctgctgggtg ccagcctgct gggtgacctg
     2521 tcttcactga ccagcagccc tggagccctc cccagcctgt tgcagcctcc tggccctctt
     2581 ctctctggcc agttggggct gcagctcctc cctggggggg gagctcctcc acccctctca
     2641 gaggcttcta gtcccctagc ctgcctgcta cagagtctcc agatccctcc agagcagcca
     2701 gaagccccct gtctaccccc cgagagccct gcctcagccc tcgaaccaga gcctgccagg
     2761 cctcccctca gtgccttagc cccaccccat ggttctcccg accccccagt ccctgagctg
     2821 ctcactggga gggggtcagg gaaacggggc cggaggggag gagggggact taggggcatt
     2881 aatggtgagg ccaggccagc ccggggccga aagcctggca gccggcggga gcctggccga
     2941 ctggccctca aatgggggac acgtggtggc ttcaatggac aaatggaaag gtccccaaga
     3001 agaacccacc attggcagca taatggggag ctggctgaag ggggtgctga gcccaaggat
     3061 ccaccccctc ccgggcccca ttctgaggac cttaaggtgc ccccgggagt agtcagaaag
     3121 tctcgtcgtg gccgtaggag aaaatacaac cctacccgga acagcaatag ctcccgccag
     3181 gacattacct tggaacccag ccctacagcc cgagcagctg tccctctgcc tccccgggcc
     3241 cgccctggcc gtcctgccaa aaacaagagg aggaaactgg ccccatagca gccatacctg
     3301 gagctggatc tgaccctgat tggggagagc tgagtgctga gccttgggag cccctgccag
     3361 ccacctgcac ctgtggacag tgggtggggg cactactccc cactcagagc acaaatgcaa
     3421 ctccttcccc tacaatccca tcctgagcca ttgcaggggg cagggaagtt cacccccccc
     3481 caccaccccc ccgccccccc gaagccatgt cactgaaaag gcctgggggg gatggtatat
     3541 ggccctttcc ccaccaggcg ctaaggggaa cacccccttc cccaggtctt ttatttgttt
     3601 aagttatttt tgcacaaatg actcttttat atttaattcg atttcattgc ctcccttctt
     3661 aaagccaaca ggctcagttt acaaacctgt gagctactgt tggctgctgc cctccttccc
     3721 agtgaaaggt acaaagcaat aagcatcatg catcctcccc ttacccctcc aacacccctc
     3781 tgcctctggc tcaggttgct caaagcacag atcctctctt accccgtccc caggtttgaa
     3841 acacatagcc tcatttcaag gtgtagccag gttcccccga ctttcctctg ggatataaaa
     3901 aagggggtaa gggggcaaag agagccctct gggcctctcc tcccatacac actacactgc
     3961 cccttctccc cccatcaaaa cgctcagaga cgttgtgatg atgcgactga ggattatgca
     4021 acgtggtcca accggagcgg ccagcatgac cagctgtcca ggggctgcct cctgcctttt
     4081 cttttgtaaa gacaagaccc ttgggagttt taattctgtt ttgtacttgc cctgtggggc
     4141 ctccactgct tttctatggg agacactctt aatttaacag atgagaatat tttgaaactc
     4201 tg
//
