NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Uniprot Description
MBD4: Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA repair, damage; EC 3.2.2.-; Apoptosis; Deoxyribonuclease
Chromosomal Location of Human Ortholog: 3q21.3
Cellular Component: nucleoplasm; cytoplasm; nucleus; chromatin
Molecular Function: protein binding; satellite DNA binding; pyrimidine-specific mismatch base pair DNA N-glycosylase activity; endodeoxyribonuclease activity
Biological Process: response to radiation; base-excision repair, AP site formation; DNA damage response, signal transduction resulting in induction of apoptosis; depyrimidination; base-excision repair; mitotic cell cycle G2/M transition DNA damage checkpoint; DNA repair; DNA catabolic process, endonucleolytic