MBD5
entrez
55777
canonical
uniprot
Q9P267
canonical
ensembl
ENSG00000204406
resolver
ensp
ENSP00000386049
resolver
ensp
ENSP00000490728
resolver
ensp
ENSP00000493871
resolver
enst
ENST00000638043
resolver
enst
ENST00000642680
resolver
genesymbol
MBD5
resolver
genesymbol_syn
KIAA1461
resolver
hgnc
HGNC:20444
resolver
uniprot
A0A1B0GW10
resolver
uniprot
A0A2R8YDL9
resolver
uniprot
A5HMQ4
resolver
uniprot
A7E2B1
resolver
uniprot
Q53SR1
resolver
uniprot
Q9NUV6
resolver
uniprot_entry
A0A1B0GW10_HUMAN
resolver
uniprot_entry
A0A2R8YDL9_HUMAN
resolver
uniprot_entry
MBD5_HUMAN
resolver
uniprot_sec
A5HMQ4
resolver
uniprot_sec
A7E2B1
resolver
uniprot_sec
Q53SR1
resolver
uniprot_sec
Q9NUV6
resolver
amino_acid_sequence
MNGGKECDGGDKEGGLPAIQVPVGWQRRVDQNGVLYVSPSGSLLSCLEQVKTYLLTDGTCKCGLECPLILPKVFNFDPGAAVKQRTAEDVKADEDVTKLCIHKRKIIAVATLHKSMEAPHPSLVLTSPGGGTNATPVVPSRAATPRSVRNKSHEGITNSVMPECKNPFKLMIGSSNAMGRLYVQELPGSQQQELHPVYPRQRLGSSEHGQKSPFRGSHGGLPSPASSGSQIYGDGSISPRTDPLGSPDVFTRSNPGFHGAPNSSPIHLNRTPLSPPSVMLHGSPVQSSCAMAGRTNIPLSPTLTTKSPVMKKPMCNFSTNMEIPRAMFHHKPPQGPPPPPPPSCALQKKPLTSEKDPLGILDPIPSKPVNQNPVIINPTSFHSNVHSQVPMMNVSMPPAVVPLPSNLPLPTVKPGHMNHGSHVQRVQHSASTSLSPSPVTSPVHMMGTGIGRIEASPQRSRSSSTSSDHGNFMMPPVGPQATSSGIKVPPRSPRSTIGSPRPSMPSSPSTKSDGHHQYKDIPNPLIAGISNVLNTPSSAAFPTASAGSSSVKSQPGLLGMPLNQILNQHNAASFPASSLLSAAAKAQLANQNKLAGNNSSSSSNSGAVAGSGNTEGHSTLNTMFPPTANMLLPTGEGQSGRAALRDKLMSQQKDALRKRKQPPTTVLSLLRQSQMDSSAVPKPGPDLLRKQGQGSFPISSMSQLLQSMSCQSSHLSSNSTPGCGASNTALPCSANQLHFTDPSMNSSVLQNIPLRGEAVHCHNANTNFVHSNSPVPNHHLAGLINQIQASGNCGMLSQSGMALGNSLHPNPPQSRISTSSTPVIPNSIVSSYNQTSSEAGGSGPSSSIAIAGTNHPAITKTTSVLQDGVIVTTAAGNPLQSQLPIGSDFPFVGQEHALHFPSNSTSNNHLPHPLNPSLLSSLPISLPVNQQHLLNQNLLNILQPSAGEGDMSSINNTLSNHQLTHLQSLLNNNQMFPPNQQQQQLLQGYQNLQAFQGQSTIPCPANNNPMACLFQNFQVRMQEDAALLNKRISTQPGLTALPENPNTTLPPFQDTPCELQPRIDPSLGQQVKDGLVVGGPGDASVDAIYKAVVDAASKGMQVVITTAVNSTTQISPIPALSAMSAFTASIGDPLNLSSAVSAVIHGRNMGGVDHDGRLRNSRGARLPKNLDHGKNVNEGDGFEYFKSASCHTSKKQWDGEQSPRGERNRWKYEEFLDHPGHIHSSPCHERPNNVSTLPFLPGEQHPILLPPRNCPGDKILEENFRYNNYKRTMMSFKERLENTVERCAHINGNRPRQSRGFGELLSTAKQDLVLEEQSPSSSNSLENSLVKDYIHYNGDFNAKSVNGCVPSPSDAKSISSEDDLRNPDSPSSNELIHYRPRTFNVGDLVWGQIKGLTSWPGKLVREDDVHNSCQQSPEEGKVEPEKLKTLTEGLEAYSRVRKRNRKSGKLNNHLEAAIHEAMSELDKMSGTVHQIPQGDRQMRPPKPKRRKISR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 1 (MRD1) [MIM:156200]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:17847001, ECO:0000269|PubMed:22726846}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1) (PubMed:24634419). Important for stability of PR-DUB components and stimulating its ubiquitinase activity (PubMed:36180891). As part of the PR-DUB complex, associates with chromatin enriched in histone marks H3K4me1, H3K4me3, and H3K27Ac, but not in H3K27me3 (PubMed:36180891). The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in cell growth and survivability (PubMed:36180891). MBD5 and MBD6 containing complexes associate with distinct chromatin regions enriched in genes involved in different pathways (PubMed:36180891). Heterochromatin recruitment is not mediated by DNA methylation (PubMed:20700456). The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:36180891). {ECO:0000269|PubMed:20700456, ECO:0000269|PubMed:24634419, ECO:0000269|PubMed:36180891}.
uniprot
proteins
mass_dalton
159895
uniprot
proteins
mutagenesis
MUTAGEN 39; /note="P->A: Disrupts association with heterochromatin containing chromocentres."; /evidence="ECO:0000269|PubMed:20700456"; MUTAGEN 1399..1400; /note="WP->AA: Disrupts association with heterochromatin containing chromocentres."; /evidence="ECO:0000269|PubMed:20700456
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
12529184
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17847001
uniprot
proteins
pubmed
20700456
uniprot
proteins
pubmed
22726846
uniprot
proteins
pubmed
24634419
uniprot
proteins
pubmed
36180891
uniprot
proteins
sequence_length
1494
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000269|PubMed:20700456, ECO:0000269|PubMed:24634419}. Chromosome {ECO:0000269|PubMed:20700456}. Note=Associates with heterochromatin containing chromocentres in a DNA methylation-independent manner (PubMed:20700456). Does not localize to sites of DNA damage (PubMed:24634419). {ECO:0000269|PubMed:20700456, ECO:0000269|PubMed:24634419}.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus {ECO:0000269|PubMed:20700456, ECO:0000269|PubMed:24634419}. Note=Does not associate with heterochromatin containing chromocentres (PubMed:20700456). Does not localize to sites of DNA damage (PubMed:24634419). {ECO:0000269|PubMed:20700456, ECO:0000269|PubMed:24634419}.
uniprot
proteins