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Western Blot

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

MBD1

Gene Alias

CXXC3, PCM1, RFT

Gene Description

methyl-CpG binding domain protein 1

Omim ID

Gene Ontology

Gene Summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Five transcript variants of the MBD1 are generated by alternative splicing resulting in protein isoforms that contain one MBD domain, two to three cysteine-rich (CXXC) domains, and some differences in the COOH terminus. All five transcript variants repress transcription from methylated promoters; in addition, variants with three CXXC domains also repress unmethylated promoter activity. MBD1 and MBD2 map very close to each other on chromosome 18q21. [provided by RefSeq

Other Designations

OTTHUMP00000163504|OTTHUMP00000163506|OTTHUMP00000163507|methyl-CpG binding domain protein 1 isoform PCM1|the regulator of fibroblast growth factor 2 (FGF-2) transcription