MBD4

Methyl-CpG binding domain protein 4
File:PBB Protein MBD4 image.jpg PDB rendering based on 1ngn.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1ngn​
Identifiers
Symbols	MBD4 ; MED1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 2916
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MBD4 214047 s at tn.png
File:PBB GE MBD4 209579 s at tn.png
File:PBB GE MBD4 209580 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Methyl-CpG binding domain protein 4, also known as MBD4, is a human gene.

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. MBD4 may function to mediate the biological consequences of the methylation signal. In addition, MBD4 has protein sequence similarity to bacterial DNA repair enzymes and thus may have some function in DNA repair. Further, MBD4 gene mutations are detected in tumors with primary microsatellite-instability (MSI), a form of genomic instability associated with defective DNA mismatch repair, and MBD4 gene meets 4 of 5 criteria of a bona fide MIS target gene.

Further reading

• Boland CR, Thibodeau SN, Hamilton SR; et al. (1998). "A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer". Cancer Res. 58 (22): 5248–57. PMID 9823339.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.
• Bellacosa A, Cicchillitti L, Schepis F; et al. (1999). "MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1". Proc. Natl. Acad. Sci. U.S.A. 96 (7): 3969–74. PMID 10097147.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hendrich B, Hardeland U, Ng HH; et al. (1999). "The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites". Nature. 401 (6750): 301–4. doi:10.1038/45843. PMID 10499592.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Riccio A, Aaltonen LA, Godwin AK; et al. (1999). "The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability". Nat. Genet. 23 (3): 266–8. doi:10.1038/15443. PMID 10545939.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Petronzelli F, Riccio A, Markham GD; et al. (2000). "Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase". J. Biol. Chem. 275 (42): 32422–9. doi:10.1074/jbc.M004535200. PMID 10930409.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Petronzelli F, Riccio A, Markham GD; et al. (2000). "Investigation of the substrate spectrum of the human mismatch-specific DNA N-glycosylase MED1 (MBD4): fundamental role of the catalytic domain". J. Cell. Physiol. 185 (3): 473–80. doi:10.1002/1097-4652(200012)185:3<473::AID-JCP19>3.0.CO;2-#. PMID 11056019.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schlegel J, Güneysu S, Mennel HD (2002). "Expression of the genes of methyl-binding domain proteins in human gliomas". Oncol. Rep. 9 (2): 393–5. PMID 11836615.CS1 maint: Multiple names: authors list (link)
• Jost JP, Thiry S, Siegmann M (2002). "Estradiol receptor potentiates, in vitro, the activity of 5-methylcytosine DNA glycosylase". FEBS Lett. 527 (1–3): 63–6. PMID 12220634.CS1 maint: Multiple names: authors list (link)
• Yamada T, Koyama T, Ohwada S; et al. (2002). "Frameshift mutations in the MBD4/MED1 gene in primary gastric cancer with high-frequency microsatellite instability". Cancer Lett. 181 (1): 115–20. PMID 12430186.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Screaton RA, Kiessling S, Sansom OJ; et al. (2003). "Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosis". Proc. Natl. Acad. Sci. U.S.A. 100 (9): 5211–6. doi:10.1073/pnas.0431215100. PMID 12702765.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Evertson S, Wallin A, Arbman G; et al. (2003). "Microsatellite instability and MBD4 mutation in unselected colorectal cancer". Anticancer Res. 23 (4): 3569–74. PMID 12926109.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lehner B, Semple JI, Brown SE; et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. PMID 14667819.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kondo E, Gu Z, Horii A, Fukushige S (2005). "The thymine DNA glycosylase MBD4 represses transcription and is associated with methylated p16(INK4a) and hMLH1 genes". Mol. Cell. Biol. 25 (11): 4388–96. doi:10.1128/MCB.25.11.4388-4396.2005. PMID 15899845.CS1 maint: Multiple names: authors list (link)
• Zhang X, Krutchinsky A, Fukuda A; et al. (2005). "MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription". Mol. Cell. 19 (1): 89–100. doi:10.1016/j.molcel.2005.05.015. PMID 15989967.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)