MBD1
entrez
4152
canonical
uniprot
Q9UIS9
canonical
ensembl
ENSG00000141644
resolver
ensp
ENSP00000269468
resolver
ensp
ENSP00000269469
resolver
ensp
ENSP00000269471
resolver
ensp
ENSP00000285102
resolver
ensp
ENSP00000339546
resolver
ensp
ENSP00000372407
resolver
ensp
ENSP00000381502
resolver
ensp
ENSP00000381506
resolver
ensp
ENSP00000405268
resolver
ensp
ENSP00000465923
resolver
ensp
ENSP00000466092
resolver
ensp
ENSP00000467017
resolver
ensp
ENSP00000468042
resolver
ensp
ENSP00000468785
resolver
ensp
ENSP00000516153
resolver
ensp
ENSP00000535947
resolver
ensp
ENSP00000535948
resolver
ensp
ENSP00000535949
resolver
ensp
ENSP00000535950
resolver
ensp
ENSP00000535952
resolver
ensp
ENSP00000535953
resolver
ensp
ENSP00000535955
resolver
ensp
ENSP00000535956
resolver
ensp
ENSP00000535958
resolver
ensp
ENSP00000535960
resolver
ensp
ENSP00000535961
resolver
ensp
ENSP00000535963
resolver
ensp
ENSP00000535965
resolver
ensp
ENSP00000535966
resolver
ensp
ENSP00000535967
resolver
ensp
ENSP00000535968
resolver
ensp
ENSP00000535970
resolver
ensp
ENSP00000535971
resolver
ensp
ENSP00000535972
resolver
ensp
ENSP00000535973
resolver
ensp
ENSP00000535974
resolver
ensp
ENSP00000535977
resolver
ensp
ENSP00000535980
resolver
ensp
ENSP00000535984
resolver
ensp
ENSP00000535985
resolver
ensp
ENSP00000535986
resolver
ensp
ENSP00000535987
resolver
ensp
ENSP00000535990
resolver
ensp
ENSP00000589267
resolver
ensp
ENSP00000589268
resolver
ensp
ENSP00000589269
resolver
ensp
ENSP00000589270
resolver
ensp
ENSP00000589271
resolver
ensp
ENSP00000589276
resolver
ensp
ENSP00000589278
resolver
ensp
ENSP00000589280
resolver
ensp
ENSP00000589283
resolver
ensp
ENSP00000589287
resolver
ensp
ENSP00000589296
resolver
ensp
ENSP00000589298
resolver
ensp
ENSP00000620655
resolver
ensp
ENSP00000620657
resolver
ensp
ENSP00000620664
resolver
ensp
ENSP00000620668
resolver
ensp
ENSP00000620669
resolver
ensp
ENSP00000620672
resolver
ensp
ENSP00000620673
resolver
ensp
ENSP00000620675
resolver
ensp
ENSP00000620678
resolver
ensp
ENSP00000659109
resolver
ensp
ENSP00000659111
resolver
ensp
ENSP00000659113
resolver
ensp
ENSP00000659114
resolver
ensp
ENSP00000659115
resolver
ensp
ENSP00000659116
resolver
ensp
ENSP00000659117
resolver
ensp
ENSP00000659118
resolver
ensp
ENSP00000659120
resolver
ensp
ENSP00000659121
resolver
ensp
ENSP00000659123
resolver
ensp
ENSP00000659125
resolver
ensp
ENSP00000659126
resolver
ensp
ENSP00000659127
resolver
ensp
ENSP00000659128
resolver
ensp
ENSP00000721183
resolver
ensp
ENSP00000721185
resolver
ensp
ENSP00000721186
resolver
ensp
ENSP00000721188
resolver
ensp
ENSP00000721190
resolver
ensp
ENSP00000721192
resolver
ensp
ENSP00000721194
resolver
ensp
ENSP00000721196
resolver
ensp
ENSP00000721197
resolver
ensp
ENSP00000721198
resolver
ensp
ENSP00000721199
resolver
ensp
ENSP00000721202
resolver
ensp
ENSP00000721208
resolver
ensp
ENSP00000721209
resolver
ensp
ENSP00000749169
resolver
ensp
ENSP00000749170
resolver
ensp
ENSP00000749175
resolver
ensp
ENSP00000749176
resolver
enst
ENST00000705655
resolver
genesymbol
MBD1
resolver
genesymbol_syn
CXXC3
resolver
genesymbol_syn
PCM1
resolver
hgnc
HGNC:6916
resolver
uniprot
A0A994J7H0
resolver
uniprot
A4UTZ0
resolver
uniprot
A8K654
resolver
uniprot
B4DI41
resolver
uniprot
B4DUR3
resolver
uniprot
B4DXJ5
resolver
uniprot
E9PEC5
resolver
uniprot
K7ELI2
resolver
uniprot
K7EQZ4
resolver
uniprot
K7ESN0
resolver
uniprot
O15248
resolver
uniprot
O95241
resolver
uniprot
Q7Z7B5
resolver
uniprot
Q8N4W4
resolver
uniprot
Q9UNZ6
resolver
uniprot
Q9UNZ7
resolver
uniprot
Q9UNZ8
resolver
uniprot
Q9UNZ9
resolver
uniprot_entry
A0A994J7H0_HUMAN
resolver
uniprot_entry
A8K654_HUMAN
resolver
uniprot_entry
B4DI41_HUMAN
resolver
uniprot_entry
B4DUR3_HUMAN
resolver
uniprot_entry
MBD1_HUMAN
resolver
uniprot_sec
A4UTZ0
resolver
uniprot_sec
B4DXJ5
resolver
uniprot_sec
E9PEC5
resolver
uniprot_sec
K7ELI2
resolver
uniprot_sec
K7EQZ4
resolver
uniprot_sec
K7ESN0
resolver
uniprot_sec
O15248
resolver
uniprot_sec
O95241
resolver
uniprot_sec
Q7Z7B5
resolver
uniprot_sec
Q8N4W4
resolver
uniprot_sec
Q9UNZ6
resolver
uniprot_sec
Q9UNZ7
resolver
uniprot_sec
Q9UNZ8
resolver
uniprot_sec
Q9UNZ9
resolver
amino_acid_sequence
MAEDWLDCPALGPGWKRREVFRKSGATCGRSDTYYQSPTGDRIRSKVELTRYLGPACDLTLFDFKQGILCYPAPKAHPVAVASKKRKKPSRPAKTRKRQVGPQSGEVRKEAPRDETKADTDTAPASFPAPGCCENCGISFSGDGTQRQRLKTLCKDCRAQRIAFNREQRMFKRVGCGECAACQVTEDCGACSTCLLQLPHDVASGLFCKCERRRCLRIVERSRGCGVCRGCQTQEDCGHCPICLRPPRPGLRRQWKCVQRRCLRGKHARRKGGCDSKMAARRRPGAQPLPPPPPSQSPEPTEPHPRALAPSPPAEFIYYCVDEDELQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAMKRLLPSVWSESEDGAGSPPPYRRRKRPSSARRHHLGPTLKPTLATRTAQPDHTQAPTKQEAGGGFVLPPPGTDLVFLREGASSPVQVPGPVAASTEALLQEAQCSGLSWVVALPQVKQEKADTQDEWTPGTAVLTSPVLVPGCPSKAVDPGLPSVKQEPPDPEEDKEENKDDSASKLAPEEEAGGAGTPVITEIFSLGGTRFRDTAVWLPRSKDLKKPGARKQ
uniprot
proteins
function
FUNCTION: Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting ATF7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters. {ECO:0000269|PubMed:10454587, ECO:0000269|PubMed:10648624, ECO:0000269|PubMed:12665582, ECO:0000269|PubMed:12697822, ECO:0000269|PubMed:12711603, ECO:0000269|PubMed:14555760, ECO:0000269|PubMed:14610093, ECO:0000269|PubMed:9207790, ECO:0000269|PubMed:9774669}.
uniprot
proteins
mass_dalton
66607
uniprot
proteins
mutagenesis
MUTAGEN 22; /note="R->A,K: Abolishes binding to methylated DNA."; /evidence="ECO:0000269|PubMed:10581239, ECO:0000269|PubMed:11371345"; MUTAGEN 30; /note="R->A: Strongly reduces binding to methylated DNA."; /evidence="ECO:0000269|PubMed:10581239, ECO:0000269|PubMed:11371345"; MUTAGEN 30; /note="R->K: No loss of binding to methylated DNA."; /evidence="ECO:0000269|PubMed:11371345"; MUTAGEN 32; /note="D->A: Strongly reduces binding to methylated DNA."; /evidence="ECO:0000269|PubMed:10581239, ECO:0000269|PubMed:11371345"; MUTAGEN 34; /note="Y->A,F: Strongly reduces binding to methylated DNA."; /evidence="ECO:0000269|PubMed:10581239, ECO:0000269|PubMed:11371345"; MUTAGEN 44; /note="R->A,K: Abolishes binding to methylated DNA."; /evidence="ECO:0000269|PubMed:10581239, ECO:0000269|PubMed:11371345"; MUTAGEN 45; /note="S->A: Reduces binding to methylated DNA."; /evidence="ECO:0000269|PubMed:10581239, ECO:0000269|PubMed:11371345"; MUTAGEN 46; /note="K->A: Strongly reduces binding to methylated DNA."; /evidence="ECO:0000269|PubMed:11371345"; MUTAGEN 52; /note="Y->A: No loss of binding to methylated DNA."; /evidence="ECO:0000269|PubMed:10581239, ECO:0000269|PubMed:11371345"; MUTAGEN 64; /note="F->A: Disrupts tertiary structure and abolishes DNA binding."; /evidence="ECO:0000269|PubMed:10581239"; MUTAGEN 65; /note="K->A: Strongly reduces binding to methylated DNA."; /evidence="ECO:0000269|PubMed:11371345"; MUTAGEN 576; /note="I->R: Abolishes interaction with ATF7IP and subsequent transcription repression activity."; /evidence="ECO:0000269|PubMed:15691849
uniprot
proteins
post_translational_modification
PTM: Sumoylated, sumoylation may increase interaction with ATF7IP. {ECO:0000269|PubMed:16757475}.
uniprot
proteins
pubmed
10441743
uniprot
proteins
pubmed
10454587
uniprot
proteins
pubmed
10581239
uniprot
proteins
pubmed
10648624
uniprot
proteins
pubmed
11371345
uniprot
proteins
pubmed
12665582
uniprot
proteins
pubmed
12697822
uniprot
proteins
pubmed
12711603
uniprot
proteins
pubmed
14555760
uniprot
proteins
pubmed
14610093
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14728690
uniprot
proteins
pubmed
15327775
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15691849
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
16757475
uniprot
proteins
pubmed
17066076
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19666599
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
26354109
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29276034
uniprot
proteins
pubmed
30849389
uniprot
proteins
pubmed
31612521
uniprot
proteins
pubmed
9207790
uniprot
proteins
pubmed
9774669
uniprot
proteins
sequence_length
605
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12711603, ECO:0000269|PubMed:14610093}. Nucleus matrix {ECO:0000269|PubMed:10454587, ECO:0000269|PubMed:10648624}. Nucleus speckle {ECO:0000269|PubMed:10454587, ECO:0000269|PubMed:10648624}. Chromosome {ECO:0000269|PubMed:10454587, ECO:0000269|PubMed:10648624, ECO:0000269|PubMed:12711603, ECO:0000269|PubMed:14555760}. Note=Nuclear, in a punctate pattern (PubMed:12711603). Associated with euchromatic regions of the chromosomes, with pericentromeric regions on chromosome 1 and with telomeric regions from several chromosomes (PubMed:10454587, PubMed:10648624). {ECO:0000269|PubMed:10454587, ECO:0000269|PubMed:10648624, ECO:0000269|PubMed:12711603}.
uniprot
proteins