Homo sapiens Gene: MBD1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-3349.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | MBD1 | ||||||||||||||||||||||
Gene Name | methyl-CpG binding domain protein 1 | ||||||||||||||||||||||
Synonyms | CXXC3; PCM1; RFT | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000141644 | ||||||||||||||||||||||
Encoded Proteins |
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
methyl-CpG binding domain protein 1
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 18:50266882-50281774 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q21.1 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME | |||||||||||||||||||||||
KEGG | |||||||||||||||||||||||
INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | K7EN65 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4152 | ||||||||||||||||||||||
UniGene | Hs.405610 Hs.601149 Hs.732970 | ||||||||||||||||||||||
RefSeq | NM_001204136 NM_001204137 NM_001204138 NM_001204139 NM_001204140 NM_001204141 NM_001204142 NM_001204143 NM_001204151 NM_002384 NM_015844 NM_015845 NM_015846 NM_015847 XM_005258264 XM_005258265 XM_005258268 XM_005258271 XM_005258272 XM_005258274 XM_006722452 XM_006722453 XM_006722457 XM_006722458 XM_006722459 XM_006722462 XM_006722470 XM_006722472 | ||||||||||||||||||||||
HUGO | HGNC:6916 | ||||||||||||||||||||||
OMIM | 156535 | ||||||||||||||||||||||
CCDS | CCDS11941 CCDS11942 CCDS11943 CCDS11944 CCDS32832 CCDS56071 CCDS56072 CCDS56073 CCDS59318 CCDS59319 CCDS59320 | ||||||||||||||||||||||
HPRD | 01133 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC090246 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 4152 | ||||||||||||||||||||||