Human Gene MBD1 (uc002lem.4) Description and Page Index
Description: Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA. RefSeq Summary (NM_001204136): 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 multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: hg19 chr18:47,795,216-47,808,144 Size: 12,929 Total Exon Count: 16 Strand: - Coding Region Position: hg19 chr18:47,795,999-47,806,362 Size: 10,364 Coding Exon Count: 15
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.
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UIS9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0045892 negative regulation of transcription, DNA-templated