MBD1 methyl-CpG binding domain protein 1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 4152)
Symbol: MBD1
Full name: methyl-CpG binding domain protein 1
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CXXC3; PCM1; RFT
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
Orthologs: mouse
Gene size: 14883bp
Exon count: 20