MBD1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| methyl-CpG binding domain protein 1 | MIM:156535 | Ensembl:ENSG00000141644 | HGNC:HGNC:6916 | PA30659 | 18q21.1 |
Gene Categories:
DRUG RESISTANCEGO terms in MBD1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | IEA | GO:0005694 | chromosome |
| CC | ISS | GO:0016363 | nuclear matrix |
| CC | ISS | GO:0016607 | nuclear speck |
| BP | IBA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IBA | GO:0006346 | methylation-dependent chromatin silencing |
| BP | IEA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0006366 | transcription by RNA polymerase II |
| BP | NAS | GO:0045892 | negative regulation of transcription, DNA-templated |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | TAS | GO:0003677 | DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IBA | GO:0008327 | methyl-CpG binding |
| MF | IDA | GO:0008327 | methyl-CpG binding |
| MF | NAS | GO:0008327 | methyl-CpG binding |
| MF | IDA | GO:0010385 | double-stranded methylated DNA binding |
Gene expression in normal tissue: MBD1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MBD1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-3899300 | SUMOylation of transcription cofactors |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-597592 | Post-translational protein modification |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MBD1
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