Homo sapiens Gene: MBD4
Summary
InnateDB Gene IDBG-55837.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBD4
Gene Name methyl-CpG binding domain protein 4
Synonyms MED1;
Species Homo sapiens
Ensembl Gene ENSG00000129071
Encoded Proteins
methyl-CpG binding domain protein 4
methyl-CpG binding domain protein 4
methyl-CpG binding domain protein 4
methyl-CpG binding domain protein 4
methyl-CpG binding domain protein 4
methyl-CpG binding domain protein 4
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 an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:129430944-129440179
Strand Reverse strand
Band q21.3
Transcripts
ENST00000249910 ENSP00000249910
ENST00000393278 ENSP00000376959
ENST00000429544 ENSP00000394080
ENST00000503197 ENSP00000424873
ENST00000509828 ENSP00000422690
ENST00000507208 ENSP00000422327
ENST00000511009
ENST00000515266
ENST00000509587
ENST00000505883
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
Experimentally validated
Total 29 [view]
Protein-Protein 24 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003696 satellite DNA binding
GO:0003824 catalytic activity
GO:0004520 endodeoxyribonuclease activity
GO:0005515 protein binding
GO:0008263 pyrimidine-specific mismatch base pair DNA N-glycosylase activity
Biological Process
GO:0000737 DNA catabolic process, endonucleolytic
GO:0006281 DNA repair
GO:0006284 base-excision repair
GO:0006285 base-excision repair, AP site formation
GO:0006974 cellular response to DNA damage stimulus
GO:0007095 mitotic G2 DNA damage checkpoint
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009314 response to radiation
GO:0045008 depyrimidination
Cellular Component
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
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
Base-free sugar-phosphate removal via the single-nucleotide replacement pathway pathway
Resolution of Abasic Sites (AP sites) pathway
Depyrimidination pathway
Removal of DNA patch containing abasic residue pathway
Base Excision Repair pathway
Cleavage of the damaged pyrimidine pathway
Base-Excision Repair, AP Site Formation pathway
Displacement of DNA glycosylase by APE1 pathway
Recognition and association of DNA glycosylase with site containing an affected pyrimidine pathway
Resolution of AP sites via the multiple-nucleotide patch replacement pathway pathway
Resolution of AP sites via the single-nucleotide replacement pathway pathway
DNA Repair pathway
KEGG
Base excision repair pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.35947 Hs.678717 Hs.692921
RefSeq NM_001276270 NM_001276271 NM_001276272 NM_001276273 NM_003925
HUGO
OMIM
CCDS CCDS3058 CCDS63766 CCDS63767 CCDS63768 CCDS63769
HPRD 04654
IMGT
EMBL
GenPept
RNA Seq Atlas