MBD1 - methyl-CpG binding domain protein 1
Entrez Gene Name: methyl-CpG binding domain protein 1
Entrez GeneID: Human(4152)
, Mouse(17190), Rat(291439)
, Mouse(17190), Rat(291439) Synonyms: CXXC3, MBD1, PCM1, RFT
Gene Summary
- Human (4152): DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Five transcript variants of the MBD1 are generated by alternative splicing resulting in protein isoforms that contain one MBD domain, two to three cysteine-rich (CXXC) domains, and some differences in the COOH terminus. All five transcript variants repress transcription from methylated promoters; in addition, variants with three CXXC domains also repress unmethylated promoter activity. MBD1 and MBD2 map very close to each other on chromosome 18q21. [provided by RefSeq]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
DNA methylation, negative regulation of transcription, regulation of transcription, DNA-dependent, transcription, transcription from RNA polymerase II promoter
Literature References
- 14633992Ballestar E, Paz MF, Valle L, Wei S, Fraga MF, Espada J, Cigudosa JC, Huang TH, Esteller M. Methyl-CpG binding proteins identify novel sites of epigenetic inactivation in human cancer.EMBO J 2003 Dec 01;22(23):6335-45
- 17428788Sakamoto Y, Watanabe S, Ichimura T, Kawasuji M, Koseki H, Baba H, Nakao M. Overlapping roles of the methylated DNA-binding protein MBD1 and polycomb group proteins in transcriptional repression of HOXA genes and heterochromatin foci formation.J Biol Chem 2007 Jun 01;282(22):16391-400
- 15691849Ichimura T, Watanabe S, Sakamoto Y, Aoto T, Fujita N, Nakao M. Transcriptional Repression and Heterochromatin Formation by MBD1 and MCAF/AM Family Proteins.J Biol Chem 2005 Apr 08;280(14):13928-35 View 325 categorized literature findings and their references in IPA
Molecular Functions
DNA binding, metal ion binding, methyl-CpG binding, protein binding, transcription corepressor activity, transcription factor activity, zinc ion binding
Protein Domains
CXXC zinc finger, DNA binding, methyl-CpG-binding domain, protein binding, transcription co-repressor, transcription factor, transcription regulator, transcription repression domain
Subcellular Locations
centromeric heterochromatin, euchromatin compartments, heterochromatic compartments, nuclear foci, nuclear fraction, nucleoli, nucleus
