ID D9ZNA4_HUMAN Unreviewed; 486 AA.
AC D9ZNA4;
DT 05-OCT-2010, integrated into UniProtKB/TrEMBL.
DT 05-OCT-2010, sequence version 1.
DT 22-FEB-2023, entry version 46.
DE RecName: Full=Methyl-CpG-binding protein 2 {ECO:0000256|PIRNR:PIRNR038006};
DE Short=MeCp-2 protein {ECO:0000256|PIRNR:PIRNR038006};
DE Short=MeCp2 {ECO:0000256|PIRNR:PIRNR038006};
GN Name=MECP2 {ECO:0000313|EMBL:ADK25710.1};
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 {ECO:0000313|EMBL:ADK25710.1};
RN [1] {ECO:0000313|EMBL:ADK25710.1}
RP NUCLEOTIDE SEQUENCE.
RA Khajuria R.;
RT "A novel missense change in MECP2 gene in an Indian atypical Rett syndrome
RT patient.";
RL Submitted (APR-2010) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Chromosomal protein that binds to methylated DNA. It can bind
CC specifically to a single methyl-CpG pair. It is not influenced by
CC sequences flanking the methyl-CpGs. Binds both 5-methylcytosine (5mC)
CC and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference
CC for 5-methylcytosine (5mC). {ECO:0000256|PIRNR:PIRNR038006}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000256|PIRNR:PIRNR038006}.
CC Note=Colocalized with methyl-CpG in the genome.
CC {ECO:0000256|PIRNR:PIRNR038006}.
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DR EMBL; HM156732; ADK25710.1; -; mRNA.
DR AlphaFoldDB; D9ZNA4; -.
DR PeptideAtlas; D9ZNA4; -.
DR ChiTaRS; MECP2; human.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0010385; F:double-stranded methylated DNA binding; IEA:UniProtKB-UniRule.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:UniProtKB-UniRule.
DR CDD; cd01396; MeCP2_MBD; 1.
DR InterPro; IPR016177; DNA-bd_dom_sf.
DR InterPro; IPR017353; Me_CpG-bd_MeCP2.
DR InterPro; IPR045138; MeCP2/MBD4.
DR InterPro; IPR001739; Methyl_CpG_DNA-bd.
DR PANTHER; PTHR15074; METHYL-CPG-BINDING PROTEIN; 1.
DR PANTHER; PTHR15074:SF6; METHYL-CPG-BINDING PROTEIN 2; 1.
DR Pfam; PF01429; MBD; 1.
DR PIRSF; PIRSF038006; Methyl_CpG_bd_MeCP2; 1.
DR SMART; SM00391; MBD; 1.
DR SUPFAM; SSF54171; DNA-binding domain; 1.
DR PROSITE; PS50982; MBD; 1.
PE 2: Evidence at transcript level;
KW DNA-binding {ECO:0000256|PIRNR:PIRNR038006};
KW Nucleus {ECO:0000256|ARBA:ARBA00023242, ECO:0000256|PIRNR:PIRNR038006};
KW Phosphoprotein {ECO:0000256|ARBA:ARBA00022553};
KW Repressor {ECO:0000256|PIRNR:PIRNR038006};
KW Transcription {ECO:0000256|PIRNR:PIRNR038006};
KW Transcription regulation {ECO:0000256|PIRNR:PIRNR038006}.
FT DOMAIN 90..162
FT /note="MBD"
FT /evidence="ECO:0000259|PROSITE:PS50982"
FT REGION 1..120
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 147..275
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 324..486
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 8..49
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 83..116
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 251..267
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 378..400
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 448..486
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 486 AA; 52499 MW; A9C82C23877C07F6 CRC64;
MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG
KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEDWTRKLKQ RKSGRSAGKY
DVYLINPQGK AFRSKVELIA YFEKVGDTSL DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK
APGTGRGRGR PKGSGTTRPK AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT
TSTQVMVIKR PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV
LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS PKGRSSSASS
PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT SPPEPQDLSS SVCKEEKMPR
GGSLESDGCP KEPAKTQPAV ATAATAAEKY KHRGEGERKD IVSSSMPRPN REEPVDSRTP
VTERVS
//
