InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MBD1

Summary

InnateDB Protein

IDBP-232861.7

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

ENSP00000381502

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:0003700	sequence-specific DNA binding transcription factor activity
GO:0003714	transcription corepressor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0008327	methyl-CpG binding