MBD1

From Wikipedia, the free encyclopedia

Methyl-CpG binding domain protein 1

PDB rendering based on 1d9n.

Available structures: 1d9n, 1ig4

Identifiers

Symbol(s)

MBD1; CXXC3; PCM1; RFT

External IDs

OMIM: 156535 MGI: 1333811 HomoloGene: 8414

Gene ontology
Molecular Function:	• transcription factor activity • transcription corepressor activity • protein binding • zinc ion binding • methyl-CpG binding • metal ion binding
Cellular Component:	• heterochromatin • nucleus
Biological Process:	• transcription • regulation of transcription, DNA-dependent • transcription from RNA polymerase II promoter • negative regulation of transcription

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002384 (mRNA)
NP_002375 (protein)

NM_013594 (mRNA)
NP_038622 (protein)

Location

Chr 18: 46.05 - 46.06 Mb

Chr 18: 74.39 - 74.41 Mb

Pubmed search

[1]

[2]

Methyl-CpG binding domain protein 1, also known as MBD1, is a human gene.^[1] 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. 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MBD1 methyl-CpG binding domain protein 1.

[edit] Further reading

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Cross SH, Meehan RR, Nan X, Bird A (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.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
Hendrich B, Bird A (1998). "Identification and characterization of a family of mammalian methyl-CpG binding proteins.". Mol. Cell. Biol. 18 (11): 6538–47. PMID 9774669.
Ueba T, Kaspar B, Zhao X, Gage FH (1999). "Repression of human fibroblast growth factor 2 by a novel transcription factor.". J. Biol. Chem. 274 (15): 10382–7. PMID 10187827.
Hendrich B, Abbott C, McQueen H, et al. (1999). "Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes.". Mamm. Genome 10 (9): 906–12. PMID 10441743.
Fujita N, Takebayashi S, Okumura K, et al. (1999). "Methylation-mediated transcriptional silencing in euchromatin by methyl-CpG binding protein MBD1 isoforms.". Mol. Cell. Biol. 19 (9): 6415–26. PMID 10454587.
Ohki I, Shimotake N, Fujita N, et al. (2000). "Solution structure of the methyl-CpG-binding domain of the methylation-dependent transcriptional repressor MBD1.". EMBO J. 18 (23): 6653–61. doi:10.1093/emboj/18.23.6653. PMID 10581239.
Ng HH, Jeppesen P, Bird A (2000). "Active repression of methylated genes by the chromosomal protein MBD1.". Mol. Cell. Biol. 20 (4): 1394–406. PMID 10648624.
Fujita N, Shimotake N, Ohki I, et al. (2000). "Mechanism of transcriptional regulation by methyl-CpG binding protein MBD1.". Mol. Cell. Biol. 20 (14): 5107–18. PMID 10866667.
Saito M, Ishikawa F (2002). "The mCpG-binding domain of human MBD3 does not bind to mCpG but interacts with NuRD/Mi2 components HDAC1 and MTA2.". J. Biol. Chem. 277 (38): 35434–9. doi:10.1074/jbc.M203455200. PMID 12124384.
Beyer KS, Blasi F, Bacchelli E, et al. (2002). "Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.". Hum. Genet. 111 (4-5): 305–9. doi:10.1007/s00439-002-0786-3. PMID 12384770.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Patra SK, Patra A, Zhao H, et al. (2003). "Methyl-CpG-DNA binding proteins in human prostate cancer: expression of CXXC sequence containing MBD1 and repression of MBD2 and MeCP2.". Biochem. Biophys. Res. Commun. 302 (4): 759–66. PMID 12646234.
Fujita N, Watanabe S, Ichimura T, et al. (2003). "MCAF mediates MBD1-dependent transcriptional repression.". Mol. Cell. Biol. 23 (8): 2834–43. PMID 12665582.
Reese BE, Bachman KE, Baylin SB, Rountree MR (2003). "The methyl-CpG binding protein MBD1 interacts with the p150 subunit of chromatin assembly factor 1.". Mol. Cell. Biol. 23 (9): 3226–36. PMID 12697822.
Fujita N, Watanabe S, Ichimura T, et al. (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.
Carney RM, Wolpert CM, Ravan SA, et al. (2003). "Identification of MeCP2 mutations in a series of females with autistic disorder.". Pediatr. Neurol. 28 (3): 205–11. PMID 12770674.
Georgel PT, Horowitz-Scherer RA, Adkins N, et al. (2003). "Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation.". J. Biol. Chem. 278 (34): 32181–8. doi:10.1074/jbc.M305308200. PMID 12788925.
Watanabe S, Ichimura T, Fujita N, et al. (2004). "Methylated DNA-binding domain 1 and methylpurine-DNA glycosylase link transcriptional repression and DNA repair in chromatin.". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12859–64. doi:10.1073/pnas.2131819100. PMID 14555760.