Human Gene MBD1 (ENST00000585595.5) Description and Page Index
Description: Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters. (from UniProt Q9UIS9) Gencode Transcript: ENST00000585595.5 Gencode Gene: ENSG00000141644.17 Transcript (Including UTRs) Position: hg38 chr18:50,269,734-50,281,307 Size: 11,574 Total Exon Count: 18 Strand: - Coding Region Position: hg38 chr18:50,271,501-50,279,992 Size: 8,492 Coding Exon Count: 16
