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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MBD1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4152
Official gene symbolMBD1
Full namemethyl-CpG binding domain protein 1
Aliases,CXXC3,PCM1,RFT,
Gene summaryDNA 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]
LocationChromosome: 18   Locus: 18q21
Gene position47808144 - 47795216  Map Viewer
Gene orientationminus
Gene size12929 bp
Gene sequence
OMIM ID156535