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MBTD1 Gene

protein-coding   GIFtS: 45
GCID: GC17M049254

Mbt Domain Containing 1

  See related disease
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
Mbt Domain Containing 11 2
SA49P012
MBT Domain-Containing Protein 12

External Ids:    HGNC: 198661   Entrez Gene: 547992   Ensembl: ENSG000000112587   UniProtKB: Q05BQ53   

Export aliases for MBTD1 gene to outside databases

Previous GC identifers: GC17M051750 GC17M049611 GC17M049743 GC17M046623 GC17M044625


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MBTD1 Gene:
MBTD1 (mbt domain containing 1) is a protein-coding gene. Diseases associated with MBTD1 include malaria. An important paralog of this gene is L3MBTL1.

UniProtKB/Swiss-Prot: MBTD1_HUMAN, Q05BQ5
Function: Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of
genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By
similarity). Specifically binds to monomethylated and dimethylated 'Lys-20' on histone H4




(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:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBTD1 gene promoter:
         Oct-B1   oct-B3   oct-B2   RORalpha2   FOXC1   POU2F1   NRF-2   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBTD1 promoter sequence
   Search Chromatin IP Primers for MBTD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBTD1


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

Entrez Gene cytogenetic band: 17q21.33   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q24.1

MBTD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBTD1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M049254:  view genomic region     (about GC identifiers)

Start:
49,254,786 bp from pter      End:
49,337,524 bp from pter
Size:
82,739 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, 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., 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: MBTD1_HUMAN, Q05BQ5 (See protein sequence)
Recommended Name: MBT domain-containing protein 1  
Size: 628 amino acids; 70547 Da
Subunit: Monomer
Sequence caution: Sequence=BAC85763.1; Type=Erroneous translation; Note=Wrong choice of frame;
2 PDB 3D structures from and Proteopedia for MBTD1:
3FEO (3D)        4C5I (3D)    
Secondary accessions: Q6ZVU7 Q9NXU1
Alternative splicing: 3 isoforms:  Q05BQ5-1   Q05BQ5-2   Q05BQ5-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MBTD1: NX_Q05BQ5

Explore proteomics data for MBTD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MBTD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060113.2  
    ENSEMBL proteins: 
     ENSP00000468304   ENSP00000386072   ENSP00000467622   ENSP00000403946   ENSP00000365561  

    MBTD1 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
    OriGene Purified Protein for MBTD1
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    OriGene Custom MassSpec
    OriGene Custom Protein Services for MBTD1
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MBTD1

    MBTD1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MBTD1
    Novus Biologicals MBTD1 Antibodies
    Abcam antibodies for MBTD1
    Cloud-Clone Corp. Antibodies for MBTD1
    Search ThermoFisher Antibodies for MBTD1
    LSBio Antibodies in human, mouse, rat for MBTD1

    MBTD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MBTD1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MBTD1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MBTD1
    Cloud-Clone Corp. CLIAs for MBTD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR004092 Mbt
     IPR012313 Znf_FCS

    Graphical View of Domain Structure for InterPro Entry Q05BQ5

    ProtoNet protein and cluster: Q05BQ5

    UniProtKB/Swiss-Prot: MBTD1_HUMAN, Q05BQ5
    Similarity: Contains 1 FCS-type zinc finger
    Similarity: Contains 4 MBT repeats


    MBTD1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBTD1_HUMAN, Q05BQ5
    Function: Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of
    genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By
    similarity). Specifically binds to monomethylated and dimethylated 'Lys-20' on histone H4

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
         
    MBTD1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MBTD1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mbtd1):
     craniofacial  hematopoietic system  liver/biliary system  mortality/aging  skeleton 

    MBTD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mbtd1tm1Homy for MBTD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBTD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MBTD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MBTD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MBTD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MBTD1:
    hsa-mir-101-3p (MIRT027315), hsa-mir-128-3p (MIRT022008), hsa-mir-27a-3p (MIRT028724), hsa-mir-151a-3p (MIRT019514), hsa-mir-149-5p (MIRT045427)

    Block miRNA regulation of human, mouse, rat MBTD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBTD1 (see all 69):
    hsa-miR-3130-5p hsa-miR-579 hsa-miR-3152-3p hsa-miR-607 hsa-miR-128 hsa-miR-605 hsa-miR-200a hsa-miR-1258
    SwitchGear 3'UTR luciferase reporter plasmidMBTD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MBTD1
    Predesigned siRNA for gene silencing in human, mouse, rat MBTD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MBTD1

    Clone
    Products:
         
    OriGene clones in human, mouse for MBTD1 (see all 7)
    OriGene ORF clones in mouse, rat for MBTD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MBTD1 (NM_017643)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBTD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBTD1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MBTD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MBTD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBTD1


    (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
    MBTD1_HUMAN, Q05BQ5: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol1
    golgi apparatus1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    MBTD1 for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including MBTD1: 
              Polycomb & Trithorax Complexes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MBTD1

    Selected Interacting proteins for MBTD1 (Q05BQ53) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL21P467783I2D: score=5 
    GABARAPO951663I2D: score=4 
    SUFUQ9UMX13I2D: score=4 
    KAT5Q929933I2D: score=1 
    MORF4L1Q9UBU83I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0016568chromatin modification IEA--
    GO:0048706embryonic skeletal system development IEA--

    MBTD1 for ontologies           About GeneDecksing



    (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 MBTD1



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MBTD1 gene: 
    NM_017643.2  

    Unigene Cluster for MBTD1:

    Mbt domain containing 1
    Hs.656803  [show with all ESTs]
    Unigene Representative Sequence: NM_017643
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000586178 ENST00000405860(uc002itp.4 uc002itq.4) ENST00000586898
    ENST00000591270 ENST00000593259 ENST00000415868(uc002itr.4) ENST00000376381

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MBTD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBTD1 (see all 69):
    hsa-miR-3130-5p hsa-miR-579 hsa-miR-3152-3p hsa-miR-607 hsa-miR-128 hsa-miR-605 hsa-miR-200a hsa-miR-1258
    SwitchGear 3'UTR luciferase reporter plasmidMBTD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MBTD1
    Predesigned siRNA for gene silencing in human, mouse, rat MBTD1
    Clone
    Products:
         
    OriGene clones in human, mouse for MBTD1 (see all 7)
    OriGene ORF clones in mouse, rat for MBTD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MBTD1 (NM_017643)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBTD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBTD1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MBTD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBTD1
      QuantiTect SYBR Green Assays in human, mouse, rat MBTD1
      QuantiFast Probe-based Assays in human, mouse, rat MBTD1

    Additional mRNA sequence: 

    AK000062.1 AK124061.1 AL133577.1 BC034364.1 BC101736.1 

    7 DOTS entries:

    DT.113917  DT.100019118  DT.120936943  DT.40214706  DT.101977315  DT.75183493  DT.95255010 

    19 AceView cDNA sequences:

    AW515138 BC034364 BU195532 AK124061 AA284450 CD243378 BE783154 AL599870 
    NM_017643 AW811953 AI744817 AK000062 AA244164 AA287018 AI580480 AA244081 
    BX102129 AI732078 AI732135 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MBTD1    About this scheme

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


    ECgene alternative splicing isoforms for MBTD1

    (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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    MBTD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGTGAAAA
    MBTD1 Expression
    About this image


    MBTD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Testis (Reproductive System)
    MBTD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBTD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656803
        Pathway & Disease-focused RT2 Profiler PCR Array including MBTD1: 
              Polycomb & Trithorax Complexes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MBTD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBTD1
    QuantiTect SYBR Green Assays in human, mouse, rat MBTD1
    QuantiFast Probe-based Assays in human, mouse, rat MBTD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBTD1

    (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 animals.

    Orthologs for MBTD1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbtd11 , 5 mbt domain containing 11, 5 92.94(n)1
    97.93(a)1
      11 (58.86 cM)5
    1035371  NM_134012.31  NP_598773.21 
     938858525 
    chicken
    (Gallus gallus)
    Aves MBTD11 mbt domain containing 1 84.93(n)
    93.79(a)
      417387  XM_004946154.1  XP_004946211.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBTD16
    mbt domain containing 1
    86(a)
    1 ↔ 1
    2(117783104-117831955)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.12562 Transcribed sequence with moderate similarity to protein more 81.83(n)    AL879839.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5683401 MBT domain-containing protein 1-like 72.91(n)
    81.94(a)
      568340  XM_005169482.1  XP_005169539.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sfmbt1 Scm-related gene containing four mbt domains 55.61(n)
    52.93(a)
      34709  NM_001144349.2  NP_001137821.1 


    ENSEMBL Gene Tree for MBTD1 (if available)
    TreeFam Gene Tree for MBTD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MBTD1 gene
    L3MBTL12  L3MBTL22  SCML42  L3MBTL32  SFMBT12  SCML12  L3MBTL42  SCMH12  
    SCML22  SFMBT22  
    3 SIMAP similar genes for MBTD1 using alignment to 3 protein entries:     MBTD1_HUMAN (see all proteins):
    L3MBTL1    L3MBTL2    SFMBT1

    MBTD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MBTD1
    PGOHUM00000259957


    (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)
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    Selected SNPs for MBTD1 (see all 1516)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs680699811,2
    C--49254398(+) AGAGCAAGACTCCA
    TCTCAAAA
    /-
    AAAAA
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs99166511,2
    C,F,H--49254449(+) AGCATG/ACCAAC 1 -- int118Minor allele frequency- A:0.14NS EA NA WA 2224
    rs1471243541,2
    --49254626(+) AGCTAC/GTGGAA 1 -- int10--------
    rs1473785241,2
    C--49254644(+) CTTAC-/TAAGCAC 1 -- int10--------
    rs1906257541,2
    --49254727(+) AGGGCA/GCGCAA 1 -- int10--------
    rs559089921,2
    C--49254908(+) GTAAAA/GATGAA 1 -- ut310--------
    rs1828358691,2
    --49255069(+) GAAATG/TATGTA 1 -- ut310--------
    rs115487091,2
    C--49255085(+) CTTATG/TCAGTT 1 -- ut312Minor allele frequency- T:0.00NA 4
    rs713557311,2
    C--49255307(+) AAAATTAA/-TAATA 1 -- cds11Minor allele frequency- -:0.50NA 2
    rs1997029171,2
    --49255318(+) TAATA-/ATAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MBTD1 (49254786 - 49337524 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MBTD1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBTD1
    DNA2.0 Custom Variant and Variant Library Synthesis for MBTD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for MBTD1:    
    About MalaCards
    malaria


    MBTD1 for disorders           About GeneDecksing


    Export disorders for MBTD1 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 MBTD1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with MBTD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural studies of a four-MBT repeat protein MBTD1. (PubMed id 19841675)1, 2 Eryilmaz J.... Min J. (PLoS ONE 2009)
    2. Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma. (PubMed id 23959973)1 Dewaele B....Debiec-Rychter M. (Int. J. Cancer 2014)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    5. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (Sci Signal 2009)
    6. RBP2 is an MRG15 complex component and down-regulates intragenic histone H3 lysine 4 methylation. (PubMed id 17573780)1 Hayakawa T....Nakayama J. (amp 2007)
    7. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54799 HGNC: 19866 AceView: MBTD1 Ensembl:ENSG00000011258 euGenes: HUgn54799
    ECgene: MBTD1 H-InvDB: MBTD1

    (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 MBTD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MBTD1 gene:
    Search GeneIP for patents involving MBTD1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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