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MBD1 (methyl-CpG binding domain protein 1)

Identity

Other namesCXXC3
PCM1
RFT
HGNC (Hugo) MBD1
Location 18q21.1
Location_base_pair Starts at 47795217 and ends at 47808144 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Breakpoints

 

External links

Nomenclature
HGNC (Hugo)MBD1   6916
Entrez_Gene (NCBI)MBD1  4152  methyl-CpG binding domain protein 1
Cards
GeneCards (Weizmann)MBD1
Ensembl (Hinxton)ENSG00000141644 [Gene_View]  MBD1 [Vega]
AceView (NCBI)MBD1
Genatlas (Paris)MBD1
euGene (Indiana)4152
SOURCE (Stanford)NM_002384 NM_015844 NM_015845 NM_015846 NM_015847
Gene Expression (Array Express) ENSG00000141644
Genomic and cartography
GoldenPath (UCSC)MBD1  -  18q21.1   chr18:47795217-47808144 -  18q21.1   [Description]    (hg19-Feb_2009)
EnsemblMBD1 - 18q21.1 [CytoView]
Mapping of homologs : NCBIMBD1 [Mapview]
OMIM156535   
Gene and transcription
Gene : Genbank (Entrez)AB209765 AF072241 AF078830 AF078831 AF078832
Reference sequence (RefSeq transcript) :SRSNM_002384 NM_015844 NM_015845 NM_015846 NM_015847
Reference transcript : EntrezNM_002384 NM_015844 NM_015845 NM_015846 NM_015847
RefSeq genomic : SRSAC_000061 AC_000150 NC_000018 NT_010966 NW_001838468 NW_927106
RefSeq genomic : EntrezAC_000061 AC_000150 NC_000018 NT_010966 NW_001838468 NW_927106
Consensus coding sequences : CCDS NCBIMBD1
Cluster EST : UnigeneHs.405610 [ SRS ] Hs.405610 [ NCBI ]
Alternative Splicing : Fast-db (Paris)4431
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ9UIS9 (SRS) Q9UIS9 (Expasy) Q9UIS9 (Uniprot)
With graphics : InterProQ9UIS9
Splice isoforms : VarSplice FASTAQ9UIS9(VarSplice FASTA)
Domaine pattern : Prosite (SRS)MBD (PS50982)    ZF_CXXC (PS51058)   
Domain pattern : Prosite (Expaxy)MBD (PS50982)    ZF_CXXC (PS51058)   
Domains : Interpro (SRS)DNA-bd_integrase-typ    Methyl_CpG_DNA-bd    Znf_CXXC   
Domains : Interpro (EBI)DNA-bd_integrase-typ    Methyl_CpG_DNA-bd    Znf_CXXC   
Related proteins : CluSTrQ9UIS9
Domain families : Pfam SRSMBD (PF01429)    zf-CXXC (PF02008)   
Domain families : Pfam SangerMBD (PF01429)    zf-CXXC (PF02008)   
Domain families : Pfam NCBIpfam01429    pfam02008   
Domain families : Smart EMBLMBD (SM00391)  
Blocks (Seattle)Q9UIS9
Crystal structure of protein : PDB SRS1D9N    1IG4   
Crystal structure of protein : PDBSum1D9N    1IG4   
Crystal structure of protein : IMB1D9N    1IG4   
Crystal structure of protein : PDB RSDB1D9N    1IG4   
Human Protein AtlasENSG00000141644
HPRD01133
Protein Interaction databases
DIP (DOE-UCLA)Q9UIS9
IntAct (EBI)Q9UIS9
FunCoupENSG00000141644
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMBD1
SNP : GeneSNP UtahMBD1
SNP : HGBaseMBD1
Genetic variants : HAPMAPMBD1
Somatic Mutations in Cancer : COSMICMBD1 
Mutations and Diseases : HGMDMBD1
Hereditary diseases : OMIM156535   
Hereditary diseases : GENETests156535   
Diseases : Genetic AssociationMBD1
General knowledge
Homologs : HomoloGeneMBD1
Homology/Alignments : Family Browser UCSCMBD1
Phylogenetic Trees/Animal Genes : TreeFamMBD1
Chemical/Protein Interactions : CTD4152
Keywords Ontology : AmiGODNA binding  transcription factor activity  transcription corepressor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  zinc ion binding  methyl-CpG binding  negative regulation of transcription  transcription repressor activity  nuclear speck  metal ion binding  
Keywords Ontology : EGO-EBIDNA binding  transcription factor activity  transcription corepressor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  zinc ion binding  methyl-CpG binding  negative regulation of transcription  transcription repressor activity  nuclear speck  metal ion binding  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesMBD1 Related clones (RZPD - Berlin)
Literature
PubMed42 Pubmed reference(s) in Entrez
PubGeneMBD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated05-2010Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 9 11:15:23 CEST 2010
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