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methyl-CpG-binding domain protein 4; methyl-CpG-binding protein MBD4; methyl-CpG-binding endonuclease 1; Mismatch-specific DNA N-glycosylase (MBD4, MED1)
Function:
1) mismatch-specific DNA N-glycosylase
2) DNA mismatch repair
3) thymine glycosylase activity
4) specific for G:T mismatches within methylated & unmethylated CpG sites
5) can remove uracil or 5-fluorouracil in G:U mismatches
6) no lyase activity
7) interacts with MLH1
Structure: contains 1 MBD domain (methyl-CpG-binding)
Compartment: nucleus
Alternative splicing: named isoforms=3
Pathology:
- germline defects may predispose to early onset AML [4]
Related
DNA methylation (promoter methylation)
General
DNA glycosylase
methyl-CpG-binding protein (MECP, Me-CpG-BP)
Properties
SIZE: MW = 66 kD
entity length = 580 aa
COMPARTMENT: cell nucleus
MOTIF: MBD {76-148}
HHH-GPD {461-524}
aspartate residue {D560}
Database Correlations
OMIM 603574
UniProt O95243
PFAM correlations
Entrez Gene 8930
Kegg hsa:8930
References
- OMIM :accession 603574
- UniProt :accession O95243
- NIEHS-SNPs
http://egp.gs.washington.edu/data/mbd4/
- O'Neil A
DNA Repair Mutations Lead to AML Predisposition.
In early research, germline mutations shut down a mechanism
that guards against harmful mutations that increase leukemia
risk.
MedPage Today, ASCO Reading Room. Feb 21, 2018
https://www.medpagetoday.com/reading-room/asco/hematologic-malignancies/71284
- Sanders MA, Chew E, Flensburg C et al
Germline loss of MBD4 predisposes to leukaemia due to
a mutagenic cascade driven by 5mC.
bioRxiv preprint first posted online Nov. 1, 2017
https://www.biorxiv.org/content/biorxiv/early/2017/11/01/180588.full.pdf