Version 5.4
Homo sapiens Protein: MBD1
Summary
InnateDB Protein IDBP-232857.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBD1
Protein Name methyl-CpG binding domain protein 1
Synonyms CXXC3; PCM1; RFT;
Species Homo sapiens
Ensembl Protein ENSP00000381508
InnateDB Gene IDBG-3349 (MBD1)
Protein Structure
UniProt Annotation
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 AFT7IP, 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:0000269PubMed:10454587, ECO:0000269PubMed:10648624, ECO:0000269PubMed:12665582, ECO:0000269PubMed:12697822, ECO:0000269PubMed:12711603, ECO:0000269PubMed:14555760, ECO:0000269PubMed:14610093, ECO:0000269PubMed:15327775, ECO:0000269PubMed:9207790, ECO:0000269PubMed:9774669}.
Subcellular Localization Nucleus {ECO:0000250}. Nucleus matrix {ECO:0000250}. Nucleus speckle. Chromosome. Note=Colocalizes with the Ten-1 ICD form of TENM1 in foci associated with the nuclear matrix (By similarity). Nuclear, in a punctate pattern. Associated with euchromatic regions of the chromosomes, with pericentromeric regions on chromosome 1 and with telomeric regions from several chromosomes. {ECO:0000250}.
Disease Associations
Tissue Specificity Widely expressed. {ECO:0000269PubMed:9207790}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 50 [view]
Protein-Protein 44 [view]
Protein-DNA 6 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0008270 zinc ion binding
Biological Process
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR001739 Methyl-CpG DNA binding
IPR002857 Zinc finger, CXXC-type
IPR016177 DNA-binding domain
PFAM PF01429
PF02008
PRINTS
PIRSF
SMART SM00391
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt
PhosphoSite PhosphoSite-Q9UIS9
TrEMBL
UniProt Splice Variant
Entrez Gene 4152
UniGene Hs.732970
RefSeq NP_001191069
HUGO HGNC:6916
OMIM 156535
CCDS
HPRD 01133
IMGT
EMBL
GenPept

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca