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Protein MBD1 PDB 1d9n.png
Available structures
PDBOrtholog search: PDBe RCSB
AliasesMBD1, CXXC3, PCM1, RFT, methyl-CpG binding domain protein 1
External IDsOMIM: 156535 MGI: 1333811 HomoloGene: 8414 GeneCards: MBD1
Gene location (Human)
Chromosome 18 (human)
Chr.Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for MBD1
Genomic location for MBD1
Band18q21.1Start50,266,882 bp[1]
End50,281,774 bp[1]
RNA expression pattern
PBB GE MBD1 203353 s at fs.png

PBB GE MBD1 208595 s at fs.png
More reference expression data
RefSeq (mRNA)


RefSeq (protein)


Location (UCSC)Chr 18: 50.27 – 50.28 MbChr 18: 74.27 – 74.28 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Methyl-CpG-binding domain protein 1 is a protein that in humans is encoded by the MBD1 gene.[5][6][7] The protein encoded by MBD1 binds to methylated sequences in DNA, and thereby influences transcription. It binds to a variety of methylated sequences, and appears to mediate repression of gene expression. It has been shown to play a role in chromatin modification through interaction with the histone H3K9 methyltransferase SETDB1. H3K9me3 is a repressive modification.


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.[7]


MBD1 has been shown to interact with ATF7IP,[8] CBX5,[9][10] CHAF1A[10] and SUV39H1.[9]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141644 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024561 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Cross SH, Meehan RR, Nan X, Bird A (Jul 1997). "A component of the transcriptional repressor MeCP1 shares a motif with DNA methyltransferase and HRX proteins". Nat Genet. 16 (3): 256–9. doi:10.1038/ng0797-256. PMID 9207790.
  6. ^ Hendrich B, Abbott C, McQueen H, Chambers D, Cross S, Bird A (Sep 1999). "Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes". Mamm Genome. 10 (9): 906–12. doi:10.1007/s003359901112. PMID 10441743.
  7. ^ a b "Entrez Gene: MBD1 methyl-CpG binding domain protein 1".
  8. ^ Fujita N, Watanabe S, Ichimura T, Ohkuma Y, Chiba T, Saya H, Nakao M (Apr 2003). "MCAF Mediates MBD1-Dependent Transcriptional Repression". Mol. Cell. Biol. 23 (8): 2834–43. doi:10.1128/MCB.23.8.2834-2843.2003. PMC 152570. PMID 12665582.
  9. ^ a b Fujita N, Watanabe S, Ichimura T, Tsuruzoe S, Shinkai Y, Tachibana M, Chiba T, Nakao M (Jun 2003). "Methyl-CpG binding domain 1 (MBD1) interacts with the Suv39h1-HP1 heterochromatic complex for DNA methylation-based transcriptional repression". J. Biol. Chem. 278 (26): 24132–8. doi:10.1074/jbc.M302283200. PMID 12711603.
  10. ^ a b Reese BE, Bachman KE, Baylin SB, Rountree MR (May 2003). "The Methyl-CpG Binding Protein MBD1 Interacts with the p150 Subunit of Chromatin Assembly Factor 1". Mol. Cell. Biol. 23 (9): 3226–36. doi:10.1128/MCB.23.9.3226-3236.2003. PMC 153189. PMID 12697822.

Further reading[edit]