Homo sapiens Gene: MBD1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:50266882-50281774
Strand Reverse strand
Band q21.1
Transcripts
ENST00000382948 ENSP00000372407
ENST00000353909 ENSP00000269469
ENST00000269468 ENSP00000269468
ENST00000347968 ENSP00000285102
ENST00000269471 ENSP00000269471
ENST00000339998 ENSP00000339546
ENST00000398495 ENSP00000381508
ENST00000398493 ENSP00000381506
ENST00000398488 ENSP00000381502
ENST00000457839 ENSP00000405268
ENST00000585595 ENSP00000468430
ENST00000590215 ENSP00000464823
ENST00000586884
ENST00000586118
ENST00000586679
ENST00000591661
ENST00000590208 ENSP00000468785
ENST00000588937 ENSP00000467763
ENST00000591535 ENSP00000465923
ENST00000589733 ENSP00000466429
ENST00000589541 ENSP00000466806
ENST00000591416 ENSP00000467017
ENST00000589867
ENST00000592060 ENSP00000467606
ENST00000585672 ENSP00000466092
ENST00000587605 ENSP00000468042
ENST00000589758
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.
Experimentally validated
Total 50 [view]
Protein-Protein 44 [view]
Protein-DNA 6 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0008327 methyl-CpG binding
Biological Process
GO:0006366 transcription from RNA polymerase II promoter
GO:0045892 negative regulation of transcription, DNA-templated
Cellular Component
GO:0000785 chromatin
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0016363 nuclear matrix
GO:0016607 nuclear speck
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
Mechanisms of transcriptional repression by dna methylation [Biocarta view]
PID NCI
Cross-References
SwissProt Q9UIS9
TrEMBL B4DI41
UniProt Splice Variant
Entrez Gene 4152
UniGene Hs.405610 Hs.601149 Hs.732970
RefSeq XM_005258264 XM_006722452 XM_006722453 XM_006722457 XM_006722458 XM_006722459 NM_001204139 NM_001204141 NM_015847 NM_001204142 NM_001204136 NM_001204143 NM_001204140 NM_001204137 NM_001204138 NM_002384 NM_001204151 NM_015845 NM_015846 NM_015844 XM_005258271 XM_005258268 XM_006722462 XM_006722470 XM_005258265 XM_005258272 XM_005258274 XM_006722472
HUGO HGNC:6916
OMIM 156535
CCDS CCDS56073 CCDS11943 CCDS59318 CCDS11944 CCDS56072 CCDS59320 CCDS59319 CCDS32832 CCDS11942 CCDS11941 CCDS56071
HPRD 01133
IMGT
EMBL AC090246 AF072241 AF078830 AF078831 AF078832 AF078833 AF120980 AF120981 AJ564845 AK295401 AK302004 BC033242 EF488685 Y10746
GenPept AAC68870 AAD50371 AAD51442 AAD51443 AAD51444 AAD51445 AAH33242 ABP02056 BAG58353 BAG63407 CAA71735 CAD92308
RNA Seq Atlas 4152