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

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: MBD1_HUMAN DESCRIPTION: RecName: Full=Methyl-CpG-binding domain protein 1; AltName: Full=CXXC-type zinc finger protein 3; AltName: Full=Methyl-CpG-binding protein MBD1; AltName: Full=Protein containing methyl-CpG-binding domain 1; FUNCTION: 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. SUBUNIT: Interacts with OASL, AFT7IP, AFT7IP2 and BAHD1. Binds CHAF1A and the SUV39H1-CBX5 complex via the MBD domain. Binds MGP via the TRD domain. May be part of the MeCP1 complex. During DNA replication, it recruits SETDB1 to form a S phase-specific complex that facilitates methylation of H3 'Lys-9' during replication- coupled chromatin assembly and is at least composed of the CAF-1 subunit CHAF1A, MBD1 and SETDB1. INTERACTION: P45973:CBX5; NbExp=5; IntAct=EBI-867196, EBI-78219; Q13547:HDAC1; NbExp=2; IntAct=EBI-867196, EBI-301834; Q92769:HDAC2; NbExp=2; IntAct=EBI-867196, EBI-301821; O15379:HDAC3; NbExp=3; IntAct=EBI-867196, EBI-607682; Q15156:PML-RAR; NbExp=4; IntAct=EBI-867196, EBI-867256; O43463:SUV39H1; NbExp=5; IntAct=EBI-867196, EBI-349968; SUBCELLULAR LOCATION: Nucleus speckle. Chromosome. Note=Nuclear, in a punctate pattern. Associated with euchromatic regions of the chromosomes, with pericentromeric regions on chromosome 1 and with telomeric regions from several chromosomes. TISSUE SPECIFICITY: Widely expressed. INDUCTION: Up-regulated by interferon. DOMAIN: The methyl-CpG-binding domain (MBD) functions both in binding to methylated DNA and in protein interactions. DOMAIN: The third CXXC-type zinc finger mediates binding to non- methylated CpG dinucleotides. DOMAIN: The transcriptional repression domain (TRD) is involved in transcription repression and in protein interactions. PTM: Sumoylated with SUMO1 by PIAS1 and PIAS3. Sumoylation affects transcriptional silencing by preventing the interaction with SETDB1. In contrast, sumoylation may increase interaction with AFT7IP. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Contains 3 CXXC-type zinc fingers. SIMILARITY: Contains 1 MBD (methyl-CpG-binding) domain.