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MBD1 Gene

protein-coding   GIFtS: 62
GCID: GC18M047795

Methyl-CpG Binding Domain Protein 1

  See MBD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methyl-CpG Binding Domain Protein 11 2     RFT2
PCM12 3 5     Methyl-CpG Binding Domain Protein 1 Isoform PCM12
Protein Containing Methyl-CpG-Binding Domain 12 3     Methyl-CpG-Binding Domain Protein 12
CXXC32 3     The Regulator Of Fibroblast Growth Factor 2 (FGF-2) Transcription2
CXXC-Type Zinc Finger Protein 32 3     Methyl-CpG-Binding Protein MBD13

External Ids:    HGNC: 69161   Entrez Gene: 41522   Ensembl: ENSG000001416447   OMIM: 1565355   UniProtKB: Q9UIS93   

Export aliases for MBD1 gene to outside databases

Previous GC identifers: GC18M047893 GC18M047594 GC18M046047 GC18M046049 GC18M044649


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MBD1 Gene:
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)

GeneCards Summary for MBD1 Gene:
MBD1 (methyl-CpG binding domain protein 1) is a protein-coding gene. Diseases associated with MBD1 include trigeminal neuralgia, and cutaneous lupus erythematosus. GO annotations related to this gene include methyl-CpG binding and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9
Function: Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5
of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage
by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by
recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a
complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9'
trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters

Gene Wiki entry for MBD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBD1 gene promoter:
         STAT1   p53   STAT1alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MBD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21

MBD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M047795:  view genomic region     (about GC identifiers)

Start:
47,793,252 bp from pter      End:
47,808,144 bp from pter
Size:
14,893 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9 (See protein sequence)
Recommended Name: Methyl-CpG-binding domain protein 1  
Size: 605 amino acids; 66607 Da
Subunit: Interacts with the Ten-1 ICD form of TENM1 (By similarity). Interacts with OASL, AFT7IP, AFT7IP2 and
BAHD1. Binds CHAF1A and the SUV39H1-CBX5 complex via the MBD domain. Binds MGP via the TRD domain. May be part of
the MeCP1 complex. During DNA replication, it recruits SETDB1 to form a S phase-specific complex that facilitates
methylation of H3 'Lys-9' during replication-coupled chromatin assembly and is at least composed of the CAF-1
subunit CHAF1A, MBD1 and SETDB1
2 PDB 3D structures from and Proteopedia for MBD1:
1D9N (3D)        1IG4 (3D)    
Secondary accessions: A4UTZ0 B4DXJ5 E9PEC5 O15248 O95241 Q7Z7B5 Q8N4W4 Q9UNZ6 Q9UNZ7 Q9UNZ8
Q9UNZ9
Alternative splicing: 8 isoforms:  Q9UIS9-1   Q9UIS9-2   Q9UIS9-4   Q9UIS9-5   Q9UIS9-6   Q9UIS9-7   Q9UIS9-8   Q9UIS9-9   
(Ref.3 (AAD51444) sequence is in conflict in position: 327:K->Q)

Explore the universe of human proteins at neXtProt for MBD1: NX_Q9UIS9

Explore proteomics data for MBD1 at MOPED

Post-translational modifications: 

  • Sumoylated with SUMO1 by PIAS1 and PIAS3. Sumoylation affects transcriptional silencing by preventing the
    interaction with SETDB1. In contrast, sumoylation may increase interaction with AFT7IP1
  • Ubiquitination2 at Lys422
  • Modification sites at PhosphoSitePlus

  • See MBD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (14 alternative transcripts): 
    NP_001191065.1  NP_001191066.1  NP_001191067.1  NP_001191068.1  NP_001191069.1  NP_001191070.1  NP_001191071.1  NP_001191072.1  
    NP_001191080.1  NP_002375.1  NP_056669.2  NP_056670.2  NP_056671.2  NP_056723.2  

    ENSEMBL proteins: 
     ENSP00000466092   ENSP00000467606   ENSP00000372407   ENSP00000269469   ENSP00000467017  
     ENSP00000339546   ENSP00000468785   ENSP00000468042   ENSP00000467763   ENSP00000468430  
     ENSP00000466806   ENSP00000381508   ENSP00000405268   ENSP00000381506   ENSP00000381502  
     ENSP00000465923   ENSP00000466429   ENSP00000464823   ENSP00000269471   ENSP00000408846  
     ENSP00000269468   ENSP00000285102   ENSP00000409561   ENSP00000342531  

    MBD1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MBD1
    OriGene Custom MassSpec
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    Novus Biologicals MBD1 Proteins
    Novus Biologicals MBD1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MBD1

     
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    MBD1 Antibody Products:

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    Abcam antibodies for MBD1 (P16444, Q9UIS9)
    Cloud-Clone Corp. Antibodies for MBD1
    ThermoFisher Antibody for MBD1
    LSBio Antibodies in human, mouse, rat for MBD1

    MBD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MBD1
    Cloud-Clone Corp. CLIAs for MBD1
    Search eBioscience for ELISAs for MBD1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001739 Methyl_CpG_DNA-bd
     IPR002857 Znf_CXXC
     IPR016177 DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9UIS9

    ProtoNet protein and cluster: Q9UIS9

    1 Blocks protein domain: IPB001739 Methyl-CpG binding

    UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9
    Domain: The methyl-CpG-binding domain (MBD) functions both in binding to methylated DNA and in protein
    interactions
    Domain: The third CXXC-type zinc finger mediates binding to non-methylated CpG dinucleotides
    Domain: The transcriptional repression domain (TRD) is involved in transcription repression and in protein
    interactions
    Similarity: Contains 3 CXXC-type zinc fingers
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain


    Find genes that share domains with MBD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBD1_HUMAN, Q9UIS9
    Function: Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5
    of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage
    by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by
    recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a
    complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9'
    trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters
    Induction: Up-regulated by interferon

         Genatlas biochemistry entry for MBD1:
    methyl-CpG binding domain protein 1,widely expressed,repressing transcription in a methylation dependent manner

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9774669
    GO:0003700sequence-specific DNA binding transcription factor activity TAS10866667
    GO:0003714transcription corepressor activity TAS10866667
    GO:0005515protein binding IPI12665582
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with MBD1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mbd1):
     behavior/neurological  cellular  nervous system 

    Find genes that share phenotypes with MBD1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MBD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MBD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MBD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MBD1:
    hsa-mir-10a-5p (MIRT047606), hsa-mir-25-3p (MIRT050283), hsa-mir-195-5p (MIRT007219), hsa-mir-615-3p (MIRT040325)

    Block miRNA regulation of human, mouse, rat MBD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBD1 (see all 30):
    hsa-miR-3934 hsa-miR-498 hsa-miR-125a-5p hsa-miR-125a-3p hsa-miR-15a hsa-miR-764 hsa-miR-508-3p hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidMBD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MBD1
    Predesigned siRNA for gene silencing in human, mouse, rat MBD1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MBD1

    Clone
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    OriGene clones in human, mouse for MBD1 (see all 28)
    OriGene ORF clones in mouse, rat for MBD1
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    GenScript: all cDNA clones in your preferred vector (see all 14): MBD1 (NM_001204136)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD1
    Addgene plasmids for MBD1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MBD1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MBD1_HUMAN, Q9UIS9: Nucleus (By similarity). Nucleus matrix (By similarity). Nucleus speckle. Chromosome.
    Note=Colocalizes with the Ten-1 ICD form of TENM1 in foci associated with the nuclear matrix (By similarity).
    Nuclear, in a punctate pattern. Associated with euchromatic regions of the chromosomes, with pericentromeric
    regions on chromosome 1 and with telomeric regions from several chromosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin ----
    GO:0000792heterochromatin ----
    GO:0005634nucleus NAS10454587
    GO:0005694chromosome IEA--
    GO:0005737cytoplasm ----

    Find genes that share ontologies with MBD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MBD1 About    
    See pathways by source

    SuperPathContained pathways About
    1SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways


    1 BioSystems Pathway for MBD1
        SIDS Susceptibility Pathways


        Pathway & Disease-focused RT2 Profiler PCR Arrays including MBD1: 
              TGFB Signaling Targets in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MBD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MBD1 (Q9UIS91, 2, 3 ENSP000002694684) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter TAS9774669
    GO:0045892negative regulation of transcription, DNA-templated NAS10454587

    Find genes that share ontologies with MBD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MBD1

    1 HMDB Compound for MBD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cytosine4-Amino-2(1H)-pyrimidinone (see all 6)71-30-7--

    1 Novoseek inferred chemical compound relationship for MBD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 55.4 1 17428788 (1)



    Find genes that share compounds with MBD1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MBD1 gene (14 alternative transcripts): 
    NM_001204136.1  NM_001204137.1  NM_001204138.1  NM_001204139.1  NM_001204140.1  NM_001204141.1  NM_001204142.1  NM_001204143.1  
    NM_001204151.1  NM_002384.2  NM_015844.2  NM_015845.3  NM_015846.3  NM_015847.3  

    Unigene Cluster for MBD1:

    Methyl-CpG binding domain protein 1
    Hs.405610  [show with all ESTs]
    Unigene Representative Sequence: NM_015846
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000585672 ENST00000592060 ENST00000382948(uc002lef.3 uc002leg.3 uc010dow.2)
    ENST00000353909 ENST00000591416 ENST00000339998(uc002leo.2) ENST00000590208
    ENST00000587605 ENST00000588937 ENST00000585595 ENST00000589541 ENST00000398495(uc021ukd.1 uc021uke.1 uc010xdk.2)
    ENST00000457839 ENST00000398493 ENST00000398488 ENST00000591535 ENST00000586884
    ENST00000589733
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MBD1 (see all 30):
    hsa-miR-3934 hsa-miR-498 hsa-miR-125a-5p hsa-miR-125a-3p hsa-miR-15a hsa-miR-764 hsa-miR-508-3p hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidMBD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MBD1
    Clone
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    OriGene ORF clones in mouse, rat for MBD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 14): MBD1 (NM_001204136)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD1
    Addgene plasmids for MBD1 
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBD1
      QuantiTect SYBR Green Assays in human, mouse, rat MBD1
      QuantiFast Probe-based Assays in human, mouse, rat MBD1

    Additional mRNA sequence: 

    AB209765.1 AF072241.1 AF078830.1 AF078831.1 AF078832.1 AF078833.1 AJ564845.1 AK225889.1 
    AK225948.1 AK291519.1 AK295401.1 AK300759.1 AK302004.1 BC033242.1 BC047353.1 EF488685.1 
    Y10746.1 

    22 DOTS entries:

    DT.95240088  DT.100654573  DT.95240079  DT.91766864  DT.100654578  DT.100654572  DT.446691  DT.121096844 
    DT.91962901  DT.100849752  DT.97821150  DT.102826334  DT.95240090  DT.91730035  DT.95136706  DT.95240087 
    DT.100715722  DT.91766867  DT.100697385  DT.86859393  DT.91766859  DT.121096857 

    Selected AceView cDNA sequences (see all 319):

    AA846287 AA132955 BI333544 AW402488 AA504195 AA447109 CD723822 F02346 
    AF078832 BP431805 BQ898991 BM472650 BM709513 BQ960854 BQ645653 BM706403 
    AL547773 BC047353 AA496275 CF132296 CO248208 BU509617 F03270 BQ899195 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MBD1 (see all 25)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a ·
    SP1:        -                 -                                                     -                       -                             -     -     -         
    SP2:        -                 -                                                     -     -     -           -                                                   
    SP3:                          -                                                     -                       -                                                   
    SP4:        -                 -                                                     -                       -                                                   
    SP5:                          -                                                     -                       -                 -     -                           

    ExUns: 14b · 14c · 14d ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b · 19c · 19d · 19e · 19f · 19g · 19h ^ 20a · 20b
    SP1:                                            -                 -                 -     -                                                         
    SP2:                                            -                 -                 -     -                                                         
    SP3:                                            -                 -                                                                                 
    SP4:                    -     -     -     -     -           -     -     -     -     -                                                               
    SP5:                    -     -     -     -     -                 -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for MBD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MBD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MBD1 Expression
    About this image


    MBD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Brain (Nervous System)
             Cerebral Cortex
    MBD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.405610

    UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MBD1: 
              TGFB Signaling Targets in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MBD1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbd11 , 5 methyl-CpG binding domain protein 11, 5 78.93(n)1
    69.14(a)1
      18 (50.70 cM)5
    171901  NM_013594.21  NP_038622.21 
     742682885 
    lizard
    (Anolis carolinensis)
    Reptilia MBD16
    methyl-CpG binding domain protein 1
    45(a)
    1 ↔ 1
    2(69202100-69250013)
    African clawed frog
    (Xenopus laevis)
    Amphibia mbd1-prov2 methyl-CpG binding domain protein 1 74.13(n)    BC043835.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mbd16
    MBD1 (2 of 2)6
    methyl-CpG binding domain protein 1
    17(a)
    15(a)
    many → 1
    many → 1
    11(26493631-26509758) ENSDARG00000025699
    8(8415022-8430594) ENSDARG00000088407


    ENSEMBL Gene Tree for MBD1 (if available)
    TreeFam Gene Tree for MBD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MBD1 (see all 484)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58248361,2
    C--44658382(+) TATATA/-ATCAA 14 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs38378801,2
    C--44662787(+) ACCCC-/AGGGGG 14 -- us2k10--------
    rs726272051,2
    C--44662787(+) ACCCCA/C/GGGGGG 14 -- us2k10--------
    rs2021742781,2
    C--47792877(+) CAAACC/AGCTGG 2 -- ds50011Minor allele frequency- A:0.00EU 1323
    rs1846225351,2
    --47793000(+) CGCCTC/TGCGGG 2 -- ds50010--------
    rs1427134381,2
    C--47793083(+) ACTCGA/GGACTT 2 -- ds50010--------
    rs755490111,2
    F--47793400(+) CCAAGA/GTATTT 2 -- ut311Minor allele frequency- G:0.01WA 118
    rs11425491,2
    C,F--47793480(-) GCCACG/TGCACT 2 -- ut319Minor allele frequency- T:0.44MN NA WA CSA EA 317
    rs759401611,2
    F--47793538(+) GAGTAT/CCTGGG 2 -- ut311Minor allele frequency- C:0.03WA 118
    rs11425481,2
    C,F,A,H--47793550(-) AGGCTC/TTGTAG 2 -- ut3114Minor allele frequency- T:0.36MN NS EA NA WA CSA 973

    HapMap Linkage Disequilibrium report for MBD1 (47793252 - 47808144 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MBD1: --
    Human Gene Mutation Database (HGMD): MBD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBD1
    DNA2.0 Custom Variant and Variant Library Synthesis for MBD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 156535    OMIM disorders: --

    4 diseases for MBD1:    
    About MalaCards
    trigeminal neuralgia    cutaneous lupus erythematosus    subacute cutaneous lupus erythematosus    autistic disorder

    2 diseases from the University of Copenhagen DISEASES database for MBD1:
    Trigeminal neuralgia     Leprosy

    Find genes that share disorders with MBD1           About GenesLikeMe

    3 Novoseek inferred disease relationships for MBD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer lung 18.2 8 18668384 (3), 16284366 (2), 12776203 (1)
    cancer 6.67 4 12646234 (2)
    tumors 4.17 8 19062732 (4), 11836615 (1), 10454587 (1), 18445260 (1)

    Genetic Association Database (GAD): MBD1
    Human Genome Epidemiology (HuGE) Navigator: MBD1 (5 documents)

    Export disorders for MBD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MBD1 gene, integrated from 10 sources (see all 106):
    (articles sorted by number of sources associating them with MBD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes. (PubMed id 10441743)1, 2, 3, 9 Hendrich B.... Bird A. (Mamm. Genome 1999)
    2. A component of the transcriptional repressor MeCP1 shares a motif with DNA methyltransferase and HRX proteins. (PubMed id 9207790)1, 2, 3 Cross S.H.... Bird A. (Nat. Genet. 1997)
    3. Methylation-mediated transcriptional silencing in euchromatin by methyl-CpG binding protein MBD1 isoforms. (PubMed id 10454587)1, 2, 9 Fujita N....Nakao M. (Mol. Cell. Biol. 1999)
    4. Methylated DNA-binding domain 1 and methylpurine-DNA glycosylase link transcriptional repression and DNA repair in chromatin. (PubMed id 14555760)1, 2, 9 Watanabe S.... Nakao M. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    5. Methyl-CpG binding domain 1 (MBD1) interacts with the Suv39h1-HP1 heterochromatic complex for DNA methylation-based transcriptional repression. (PubMed id 12711603)1, 2, 9 Fujita N.... Nakao M. (J. Biol. Chem. 2003)
    6. Transcriptional repression and heterochromatin formation by MBD1 and MCAF/AM family proteins. (PubMed id 15691849)1, 2, 9 Ichimura T.... Nakao M. (J. Biol. Chem. 2005)
    7. Interaction between the 2'-5' oligoadenylate synthetase-like protein p59 OASL and the transcriptional repressor methyl CpG-binding protein 1. (PubMed id 14728690)1, 2, 9 Andersen J.B.... Justesen J. (Eur. J. Biochem. 2004)
    8. Active repression of methylated genes by the chromosomal protein MBD1. (PubMed id 10648624)1, 2, 9 Ng H.-H.... Bird A. (Mol. Cell. Biol. 2000)
    9. Regulation of MBD1-mediated transcriptional repression by SUMO and PIAS proteins. (PubMed id 17066076)1, 2, 9 Lyst M.J.... Stancheva I. (EMBO J. 2006)
    10. Methyl-CpG binding domain 1 gene polymorphisms and risk of primary lung cancer. (PubMed id 16284366)1, 4, 9 Jang J.S....Park J.Y. (amp 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4152 HGNC: 6916 AceView: MBD1 Ensembl:ENSG00000141644 euGenes: HUgn4152
    ECgene: MBD1 H-InvDB: MBD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MBD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MBD1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MBD1 gene:
    Search GeneIP for patents involving MBD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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