MBD1 Back

methyl-CpG binding domain protein 1

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NCBI Description of MBD1

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.

Community Annotation of MBD1 Add / Edit MBD1: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


MBD1 is highly significantly mutated in
MBD1 is significantly mutated in
combined cohort
50 patients (1%)
MBD1 is near significance in
Lung adenocarcinoma
10 patients (2%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for MBD1