ENSG00000129071


Homo sapiens

Features
Gene ID: ENSG00000129071
  
Biological name :MBD4
  
Synonyms : MBD4 / methyl-CpG binding domain 4, DNA glycosylase / O95243
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q21.3
Gene start: 129430944
Gene end: 129440179
  
Corresponding Affymetrix probe sets: 209579_s_at (Human Genome U133 Plus 2.0 Array)   209580_s_at (Human Genome U133 Plus 2.0 Array)   214047_s_at (Human Genome U133 Plus 2.0 Array)   214048_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422690
Ensembl peptide - ENSP00000422327
Ensembl peptide - ENSP00000424873
Ensembl peptide - ENSP00000249910
Ensembl peptide - ENSP00000376959
Ensembl peptide - ENSP00000394080
NCBI entrez gene - 8930     See in Manteia.
OMIM - 603574
RefSeq - XM_011513268
RefSeq - NM_001276270
RefSeq - NM_001276271
RefSeq - NM_001276272
RefSeq - NM_001276273
RefSeq - NM_003925
RefSeq Peptide - NP_001263199
RefSeq Peptide - NP_001263200
RefSeq Peptide - NP_001263201
RefSeq Peptide - NP_001263202
RefSeq Peptide - NP_003916
swissprot - O95243
swissprot - D6RBI7
Ensembl - ENSG00000129071
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mbd4ENSDARG00000110298Danio rerio
 MBD4ENSGALG00000020747Gallus gallus
 Mbd4ENSMUSG00000030322Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MECP2 / P51608 / methyl-CpG binding protein 2ENSG0000016905714


Protein motifs (from Interpro)
Interpro ID Name
 IPR001739  Methyl-CpG DNA binding
 IPR011257  DNA glycosylase
 IPR016177  DNA-binding domain superfamily
 IPR017352  Methyl-CpG-binding domain protein 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0009314 response to radiation IBA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0045008 depyrimidination TAS
 cellular_componentGO:0000785 chromatin IBA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0016607 nuclear speck IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003696 satellite DNA binding TAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004520 endodeoxyribonuclease activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008263 pyrimidine-specific mismatch base pair DNA N-glycosylase activity IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019104 DNA N-glycosylase activity TAS


Pathways (from Reactome)
Pathway description
Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100823 APEX1 / P27695 / apurinic/apyrimidinic endodeoxyribonuclease 1  / reaction






 

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contact: otassy@igbmc.fr