MBD1
methyl-CpG binding domain protein 1 | CXXC3, PCM1

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]

Member of: DE-10
Biological processes 25 terms
Expression (TPM)
MBD1 — as a Regulated Gene

TFs regulating MBD1 0 TFs

Transcription factors with Perturb-seq knockdown data for MBD1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = MBD1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to MBD1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of MBD1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr18:50,194,148–50,195,562 86.4 kb Distal (>10kb) Multiome 482
chr18:50,230,869–50,232,199 49.8 kb Distal (>10kb) Multiome 139
chr18:50,232,326–50,232,896 48.7 kb Distal (>10kb) Multiome 108
chr18:50,266,119–50,266,730 15.0 kb Distal (>10kb) Multiome 493
chr18:50,268,096–50,268,782 13.0 kb Distal (>10kb) Multiome 343
chr18:50,281,123–50,282,656 156 bp At TSS Multiome 877
chr18:50,287,072–50,288,411 6.4 kb Proximal (<10kb) Multiome 897
chr18:50,307,523–50,307,991 26.3 kb Distal (>10kb) Multiome 265
chr18:50,374,233–50,375,652 93.5 kb Distal (>10kb) Multiome 732
chr18:50,398,965–50,399,883 117.7 kb Distal (>10kb) Multiome 106
chr18:50,559,125–50,561,284 278.5 kb Distal (>10kb) Multiome 350

Genome Browser

Genomic view of the MBD1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr18:50,184,148 – 50,571,284
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq