MBD1, Official Symbol MBD1provided by HGNC Official Full Name methyl-CpG binding domain protein 1provided by HGNC Primary source HGNC:HGNC:6916 See related Ensembl:ENSG00000141644 MIM:156535; AllianceGenome:HGNC:6916 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFT; PCM1; CXXC3 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] Expression Ubiquitous expression in testis (RPKM 18.8), bone marrow (RPKM 9.7) and 25 other tissues See more Orthologs mouse all