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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MBD3L1 Gene

protein-coding   GIFtS: 45
GCID: GC19P008953

Methyl-CpG Binding Domain Protein 3-Like 1

(Previous name: methyl-CpG binding domain protein 3-like)
(Previous symbol: MBD3L)
  Search for MBD3L1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Methyl-CpG Binding Domain Protein 3-Like 11 2
MBD3L1 2 3
MBD3-Like Protein 12 3
Methyl-CpG Binding Domain Protein 3-Like1
Methyl-CpG-Binding Domain Protein 3-Like 12

External Ids:    HGNC: 157741   Entrez Gene: 855092   Ensembl: ENSG000001709487   OMIM: 6079635   UniProtKB: Q8WWY63   

Export aliases for MBD3L1 gene to outside databases

Previous GC identifers: GC19U900020 GC19P008798 GC19P008814 GC19P008530


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MBD3L1 Gene:
This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding
domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to
round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell
development. (provided by RefSeq, Jul 2008)

GeneCards Summary for MBD3L1 Gene: 
MBD3L1 (methyl-CpG binding domain protein 3-like 1) is a protein-coding gene. An important paralog of this gene is MBD3L4.

UniProtKB/Swiss-Prot: MB3L1_HUMAN, Q8WWY6
Function: Transcriptional repressor




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MBD3L1 gene promoter:
         ISGF-3   AML1a   IRF-1   STAT5A   LCR-F1   Arnt   GATA-1   RORalpha2   RORalpha1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBD3L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MBD3L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBD3L1


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

MBD3L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD3L1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P008953:  view genomic region     (about GC identifiers)

Start:
8,943,074 bp from pter      End:
8,954,016 bp from pter
Size:
10,943 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MB3L1_HUMAN, Q8WWY6 (See protein sequence)
Recommended Name: Methyl-CpG-binding domain protein 3-like 1  
Size: 194 amino acids; 21616 Da
Subcellular location: Nucleus. Note=Nuclear, in large foci
Miscellaneous: Does not bind methylated DNA
Miscellaneous: The MBD3L proteins are encoded by strongly repeated regions of the 19p13 chromosome. The exact
number of functional copies is unclear, and some of them may represent pseudogenes
Secondary accessions: B5BUM6 Q2M291

Explore the universe of human proteins at neXtProt for MBD3L1: NX_Q8WWY6

Explore proteomics data for MBD3L1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WWY6

  • MBD3L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MBD3L1 Protein Expression
    REFSEQ proteins: NP_660209.2  
    ENSEMBL proteins: 
     ENSP00000471575   ENSP00000304198  

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    Novus Biologicals MBD3L1 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MBD3L1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    MBD3L1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR025884 MeCpG-bd_2/3_C_dom

    Graphical View of Domain Structure for InterPro Entry Q8WWY6

    ProtoNet protein and cluster: Q8WWY6

    UniProtKB/Swiss-Prot: MB3L1_HUMAN, Q8WWY6
    Domain: The N-terminal half of the protein mediates transcription repression
    Similarity: Belongs to the MBD3L family


    MBD3L1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MB3L1_HUMAN, Q8WWY6
    Function: Transcriptional repressor

    Phenotypes:
         1 GenomeRNAi human phenotype for MBD3L1:

     Increased HPV18 LCR reporter a 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mbd3l1):
     normal 

    MBD3L1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mbd3l1tm1Gpp for MBD3L1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MBD3L1 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD3L1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MBD3L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for MBD3L1 (Q8WWY63 ENSP000003041984) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MBD2Q9UBB53, ENSP000002564294I2D: score=2 STRING: ENSP00000256429
    MBD3O959833, ENSP000001568254I2D: score=2 STRING: ENSP00000156825
    CHD3Q128733, ENSP000003697164I2D: score=1 STRING: ENSP00000369716
    MTA1Q133303, ENSP000003336334I2D: score=1 STRING: ENSP00000333633
    MTA2O947763, ENSP000002788234I2D: score=1 STRING: ENSP00000278823
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--

    MBD3L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MBD3L1 (MB3L1)

    Search CenterWatch for drugs/clinical trials and news about MBD3L1 / MB3L1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MBD3L1 gene: 
    NM_145208.2  

    Unigene Cluster for MBD3L1:

    Methyl-CpG binding domain protein 3-like 1
    Hs.133912  [show with all ESTs]
    Unigene Representative Sequence: BC112064
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000595891 ENST00000305625(uc002mko.2)
    miRNA
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    Inhib. RNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBD3L1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBD3L1

    Additional mRNA sequence: 

    AB451462.1 AY038022.1 BC112058.1 BC112064.1 

    2 DOTS entries:

    DT.75144810  DT.121499601 

    4 AceView cDNA sequences:

    NM_145208 AY038022 AI073495 AW263178 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MBD3L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTATTTTA
    MBD3L1 Expression
    About this image


    See MBD3L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MBD3L1

    SOURCE GeneReport for Unigene cluster: Hs.133912

    UniProtKB/Swiss-Prot: MB3L1_HUMAN, Q8WWY6
    Tissue specificity: Highly expressed in testis. Detected at low levels in pancreas. Not detected in the other
    tissues tested

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD3L1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MBD3L1 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbd3l11 , 5 methyl-CpG binding domain protein 3-like 11, 5 73.93(n)1
    64.8(a)1
      9 (7.06 cM)5
    735031  NM_028557.21  NP_082833.11 
     184783955 
    chicken
    (Gallus gallus)
    Aves --
    --
    36(a)
    possible ortholog
    AADN03025573.1(1868-4299)
    zebrafish
    (Danio rerio)
    Actinopterygii mbd26
    methyl-CpG binding domain protein 2
    20(a)
    1 → many
    5(1437051-1456383)
    fruit fly
    (Drosophila melanogaster)
    Insecta MBD-like6
    MBD-like
    13(a)
    1 → many
    3R(5385487-5387255)


    ENSEMBL Gene Tree for MBD3L1 (if available)
    TreeFam Gene Tree for MBD3L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MBD3L1 gene
    MBD3L42  MBD22  MBD3L32  MBD32  MBD3L52  MBD3L22  
    7 SIMAP similar genes for MBD3L1 using alignment to 1 protein entry:     MB3L1_HUMAN:
    DKFZp586O0821    MBD3    NY-CO-41    MBD3L2    MBD3L3    MBD3L4
    MBD3L5

    MBD3L1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/101 SNPs in MBD3L1 are shown (see all 101)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1833975351,2
    --8951269(+) AGCCAC/GCATGC 1 -- us2k10--------
    rs1473662831,2
    C--8951344(+) TATTTG/TCAGAT 1 -- us2k10--------
    rs1381366051,2
    --8951502(+) TTCTAC/TGCATG 1 -- us2k10--------
    rs1174546471,2
    C,F--8951509(+) CATGAT/CGGATT 1 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1435956201,2
    --8951571(+) TGTCAC/TGTGAT 1 -- us2k10--------
    rs1471892141,2
    --8951575(+) ACGTGA/CTTCTT 1 -- us2k10--------
    rs1880454851,2
    --8951617(+) CATGGC/TGTCAC 1 -- us2k10--------
    rs1396480671,2
    --8951643(+) TCCAAA/GTTTGA 1 -- us2k10--------
    rs1164429031,2
    C,F--8951678(+) GTGGTA/GAGGAA 1 -- us2k11Minor allele frequency- G:0.07WA 118
    rs592991551,2
    C--8951721(+) TTTTTTT/-AGACA 1 -- us2k11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for MBD3L1 (8943074 - 8954016 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MBD3L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv48n68CNV Gain17160897
    nsv911019CNV Gain21882294
    nsv428362CNV Gain+Loss18775914
    dgv1056e1CNV Complex17122850
    nsv469648CNV Complex16826518
    nsv483078CNV Complex15286789

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MBD3L1 for disorders           About MalaCards
    OMIM gene information: 607963    OMIM disorders: --


    MBD3L1 for disorders           About GeneDecksing


    Export disorders for MBD3L1 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)
    About This Section

    PubMed articles for MBD3L1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MBD3L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MBD3L1 and MBD3L2, two new proteins homologous to the methyl-CpG- binding proteins MBD2 and MBD3: characterization of MBD3L1 as a testis-specific transcriptional repressor. (PubMed id 12504854)1, 2, 3, 9 Jiang C.-L.... Pfeifer G.P. (2002)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Unique features of the anti-parallel, heterodimeric co iled-coil interaction between methyl-cytosine binding domain 2 (MBD2) homologues and GATA zinc finger domain containing 2A (GATAD2A/p66a). (PubMed id 23239876)1 Walavalkar N.M....Williams D.C. (2013)
    4. Human protein factory for converting the transcriptome into an in vitro-expressed proteome. (PubMed id 19054851)2 Goshima N.... Nomura N. (2008)
    5. MBD3L1 is a transcriptional repressor that interacts with methyl-CpG- binding protein 2 (MBD2) and components of the NuRD complex. (PubMed id 15456747)1 Jiang C.-L.... Pfeifer G.P. (2004)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    7. The metastasis-associated proteins 1 and 2 form distinct protein complexes with histone deacetylase activity. (PubMed id 12920132)1 Yao Y.-L. and Yang W.-M. (2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Methylated-CpG island recovery assay: a new technique for the rapid detection of methylated-CpG islands in cancer. (PubMed id 16025148)9 Rauch T. and Pfeifer G.P. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 85509 HGNC: 15774 AceView: MBD3L1 Ensembl:ENSG00000170948 euGenes: HUgn85509
    ECgene: MBD3L1 H-InvDB: MBD3L1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MBD3L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MBD3L1 gene:
    Search GeneIP for patents involving MBD3L1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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