MBD6_HUMAN
ID MBD6_HUMAN Reviewed; 1003 AA.
AC Q96DN6; Q8N3M0; Q8NA81; Q96Q00;
DT 25-MAR-2003, integrated into UniProtKB/Swiss-Prot.
DT 25-MAR-2003, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Methyl-CpG-binding domain protein 6;
DE AltName: Full=Methyl-CpG-binding protein MBD6;
GN Name=MBD6; Synonyms=KIAA1887;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=11572484; DOI=10.1093/dnares/8.4.179;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXI. The
RT complete sequences of 60 new cDNA clones from brain which code for large
RT proteins.";
RL DNA Res. 8:179-187(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [5]
RP SUBCELLULAR LOCATION.
RX PubMed=20700456; DOI=10.1371/journal.pone.0011982;
RA Laget S., Joulie M., Le Masson F., Sasai N., Christians E., Pradhan S.,
RA Roberts R.J., Defossez P.A.;
RT "The human proteins MBD5 and MBD6 associate with heterochromatin but they
RT do not bind methylated DNA.";
RL PLoS ONE 5:E11982-E11982(2010).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Binds to heterochromatin. Does not interact with either
CC methylated or unmethylated DNA (in vitro).
CC -!- INTERACTION:
CC Q96DN6; Q76L83-2: ASXL2; NbExp=4; IntAct=EBI-719591, EBI-12043951;
CC Q96DN6; O43639: NCK2; NbExp=3; IntAct=EBI-719591, EBI-713635;
CC Q96DN6; P98175: RBM10; NbExp=3; IntAct=EBI-719591, EBI-721525;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20700456}. Chromosome
CC {ECO:0000269|PubMed:20700456}. Note=Associated with pericentric
CC heterochromatin in about 25% of the cells.
CC -!- DOMAIN: The MBD domain is necessary for chromocentric localization.
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DR EMBL; AK056399; BAB71176.1; -; mRNA.
DR EMBL; AK093078; BAC04045.1; -; mRNA.
DR EMBL; AB067474; BAB67780.1; -; mRNA.
DR EMBL; AL834230; CAD38908.1; -; mRNA.
DR EMBL; AC022506; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS8944.1; -.
DR RefSeq; NP_443129.3; NM_052897.3.
DR AlphaFoldDB; Q96DN6; -.
DR SMR; Q96DN6; -.
DR BioGRID; 125347; 12.
DR IntAct; Q96DN6; 10.
DR STRING; 9606.ENSP00000347896; -.
DR iPTMnet; Q96DN6; -.
DR PhosphoSitePlus; Q96DN6; -.
DR BioMuta; MBD6; -.
DR DMDM; 29336893; -.
DR EPD; Q96DN6; -.
DR jPOST; Q96DN6; -.
DR MassIVE; Q96DN6; -.
DR MaxQB; Q96DN6; -.
DR PaxDb; Q96DN6; -.
DR PeptideAtlas; Q96DN6; -.
DR PRIDE; Q96DN6; -.
DR ProteomicsDB; 76302; -.
DR Antibodypedia; 50110; 53 antibodies from 14 providers.
DR DNASU; 114785; -.
DR Ensembl; ENST00000355673.8; ENSP00000347896.3; ENSG00000166987.15.
DR GeneID; 114785; -.
DR KEGG; hsa:114785; -.
DR MANE-Select; ENST00000355673.8; ENSP00000347896.3; NM_052897.4; NP_443129.3.
DR UCSC; uc001soj.2; human.
DR CTD; 114785; -.
DR DisGeNET; 114785; -.
DR GeneCards; MBD6; -.
DR HGNC; HGNC:20445; MBD6.
DR HPA; ENSG00000166987; Low tissue specificity.
DR MIM; 619458; gene.
DR neXtProt; NX_Q96DN6; -.
DR OpenTargets; ENSG00000166987; -.
DR PharmGKB; PA134866196; -.
DR VEuPathDB; HostDB:ENSG00000166987; -.
DR eggNOG; ENOG502QR6I; Eukaryota.
DR GeneTree; ENSGT00530000064137; -.
DR InParanoid; Q96DN6; -.
DR OMA; PQLFHTV; -.
DR OrthoDB; 75997at2759; -.
DR PhylomeDB; Q96DN6; -.
DR TreeFam; TF338183; -.
DR PathwayCommons; Q96DN6; -.
DR Reactome; R-HSA-5689603; UCH proteinases.
DR SignaLink; Q96DN6; -.
DR BioGRID-ORCS; 114785; 27 hits in 1087 CRISPR screens.
DR ChiTaRS; MBD6; human.
DR GenomeRNAi; 114785; -.
DR Pharos; Q96DN6; Tbio.
DR PRO; PR:Q96DN6; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96DN6; protein.
DR Bgee; ENSG00000166987; Expressed in oviduct epithelium and 185 other tissues.
DR ExpressionAtlas; Q96DN6; baseline and differential.
DR Genevisible; Q96DN6; HS.
DR GO; GO:0010369; C:chromocenter; IDA:UniProtKB.
DR GO; GO:0005694; C:chromosome; IEA:UniProtKB-SubCell.
DR GO; GO:0001650; C:fibrillar center; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; IDA:UniProtKB.
DR InterPro; IPR016177; DNA-bd_dom_sf.
DR InterPro; IPR037385; MBD5/MBD6.
DR InterPro; IPR001739; Methyl_CpG_DNA-bd.
DR PANTHER; PTHR16112; PTHR16112; 1.
DR SMART; SM00391; MBD; 1.
DR SUPFAM; SSF54171; SSF54171; 1.
DR PROSITE; PS50982; MBD; 1.
PE 1: Evidence at protein level;
KW Chromosome; Nucleus; Reference proteome.
FT CHAIN 1..1003
FT /note="Methyl-CpG-binding domain protein 6"
FT /id="PRO_0000096267"
FT DOMAIN 11..81
FT /note="MBD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00338"
FT REGION 120..219
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 238..664
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 683..1003
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 141..172
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 264..286
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 345..364
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 387..405
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 443..458
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 571..592
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 599..620
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 688..702
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 703..734
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 807..844
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 872..890
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 905..922
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 946..960
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 637
FT /note="D -> G (in Ref. 1; BAB71176)"
FT /evidence="ECO:0000305"
FT CONFLICT 802
FT /note="Q -> QQ (in Ref. 1; BAC04045)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1003 AA; 101201 MW; 6C8E8693AA6A3BE6 CRC64;
MNGGNESSGA DRAGGPVATS VPIGWQRCVR EGAVLYISPS GTELSSLEQT RSYLLSDGTC
KCGLECPLNV PKVFNFDPLA PVTPGGAGVG PASEEDMTKL CNHRRKAVAM ATLYRSMETT
CSHSSPGEGA SPQMFHTVSP GPPSARPPCR VPPTTPLNGG PGSLPPEPPS VSQAFPTLAG
PGGLFPPRLA DPVPSGGSSS PRFLPRGNAP SPAPPPPPAI SLNAPSYNWG AALRSSLVPS
DLGSPPAPHA SSSPPSDPPL FHCSDALTPP PLPPSNNLPA HPGPASQPPV SSATMHLPLV
LGPLGGAPTV EGPGAPPFLA SSLLSAAAKA QHPPLPPPST LQGRRPRAQA PSASHSSSLR
PSQRRPRRPP TVFRLLEGRG PQTPRRSRPR APAPVPQPFS LPEPSQPILP SVLSLLGLPT
PGPSHSDGSF NLLGSDAHLP PPPTLSSGSP PQPRHPIQPS LPGTTSGSLS SVPGAPAPPA
ASKAPVVPSP VLQSPSEGLG MGAGPACPLP PLAGGEAFPF PSPEQGLALS GAGFPGMLGA
LPLPLSLGQP PPSPLLNHSL FGVLTGGGGQ PPPEPLLPPP GGPGPPLAPG EPEGPSLLVA
SLLPPPPSDL LPPPSAPPSN LLASFLPLLA LGPTAGDGEG SAEGAGGPSG EPFSGLGDLS
PLLFPPLSAP PTLIALNSAL LAATLDPPSG TPPQPCVLSA PQPGPPTSSV TTATTDPGAS
SLGKAPSNSG RPPQLLSPLL GASLLGDLSS LTSSPGALPS LLQPPGPLLS GQLGLQLLPG
GGAPPPLSEA SSPLACLLQS LQIPPEQPEA PCLPPESPAS ALEPEPARPP LSALAPPHGS
PDPPVPELLT GRGSGKRGRR GGGGLRGING EARPARGRKP GSRREPGRLA LKWGTRGGFN
GQMERSPRRT HHWQHNGELA EGGAEPKDPP PPGPHSEDLK VPPGVVRKSR RGRRRKYNPT
RNSNSSRQDI TLEPSPTARA AVPLPPRARP GRPAKNKRRK LAP
