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THAP11 Gene

protein-coding   GIFtS: 50
GCID: GC16P067876

THAP Domain Containing 11

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(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
THAP Domain Containing 111 2
RONIN2 5
CTG-B43a2
CTG-B45d2
THAP Domain-Containing Protein 112

External Ids:    HGNC: 231941   Entrez Gene: 572152   Ensembl: ENSG000001682867   OMIM: 6091195   UniProtKB: Q96EK43   

Export aliases for THAP11 gene to outside databases

Previous GC identifers: GC16U900023 GC16P067652 GC16P066433 GC16P053749


(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 THAP11 Gene:
The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking
similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. (provided by
RefSeq, Jul 2008)

GeneCards Summary for THAP11 Gene:
THAP11 (THAP domain containing 11) is a protein-coding gene.

UniProtKB/Swiss-Prot: THA11_HUMAN, Q96EK4
Function: Transcriptional repressor that plays a central role for embryogenesis and the pluripotency of embryonic
stem (ES) cells. Sequence-specific DNA-binding factor that represses gene expression in pluripotent ES cells by
directly binding to key genetic loci and recruiting epigenetic modifiers (By similarity)




(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_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the THAP11 gene promoter:
         Nkx3-1   Nkx3-1 v4   ATF-2   MyoD   Nkx3-1 v1   Egr-4   GATA-2   CRE-BP1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTHAP11 promoter sequence
   Search Chromatin IP Primers for THAP11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat THAP11


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

THAP11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THAP11 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P067876:  view genomic region     (about GC identifiers)

Start:
67,876,213 bp from pter      End:
67,878,098 bp from pter
Size:
1,886 bases      Orientation:
plus 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: THA11_HUMAN, Q96EK4 (See protein sequence)
Recommended Name: THAP domain-containing protein 11  
Size: 314 amino acids; 34455 Da
Subunit: Interacts (via coiled coil domain) with HCFC1 (By similarity)
1 PDB 3D structure from and Proteopedia for THAP11:
2LAU (3D)    
Secondary accessions: A4UCT5 A8K002 O94795

Explore the universe of human proteins at neXtProt for THAP11: NX_Q96EK4

Explore proteomics data for THAP11 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys28, Lys38
  • Modification sites at PhosphoSitePlus

  • See THAP11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065190.2  
    ENSEMBL proteins: 
     ENSP00000304689  

    THAP11 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    THAP: THAP (C2CH-type zinc finger) domain containing

    1 InterPro protein domain:
     IPR006612 Znf_C2CH

    Graphical View of Domain Structure for InterPro Entry Q96EK4

    ProtoNet protein and cluster: Q96EK4

    UniProtKB/Swiss-Prot: THA11_HUMAN, Q96EK4
    Similarity: Belongs to the THAP11 family
    Similarity: Contains 1 THAP-type zinc finger


    Find genes that share domains with THAP11           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: THA11_HUMAN, Q96EK4
    Function: Transcriptional repressor that plays a central role for embryogenesis and the pluripotency of embryonic
    stem (ES) cells. Sequence-specific DNA-binding factor that represses gene expression in pluripotent ES cells by
    directly binding to key genetic loci and recruiting epigenetic modifiers (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA--
    GO:0005515protein binding IPI18585351
    GO:0008270zinc ion binding IDA--
         
    Find genes that share ontologies with THAP11           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for THAP11:
     Decreased Hepatitis C virus re  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Thap11):
     cellular  embryogenesis  mortality/aging 

    Find genes that share phenotypes with THAP11           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Thap11tm1.1Tpz for THAP11

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for THAP11
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    miRNA
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    hsa-miR-3128 hsa-miR-128 hsa-let-7a-2* hsa-miR-570 hsa-let-7g* hsa-miR-548x hsa-miR-3121-3p hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidTHAP11 3' UTR sequence
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    (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
    THA11_HUMAN, Q96EK4: Nucleus. Cytoplasm (By similarity). Note=May be regulated by shuttling of the protein
    between the cytoplasm and nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol2
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005825half bridge of spindle pole body ----
    GO:0045171intercellular bridge IDA--

    Find genes that share ontologies with THAP11           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for THAP11
    Interactions:

        Search GeneGlobe Interaction Network for THAP11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for THAP11 (Q96EK41, 2, 3 ENSP000003046894) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBP1Q153651, 2, ENSP000003055564EBI-1790529,EBI-946095 MINT-8362615 MINT-8362628 MINT-8362650 MINT-8362672 STRING: ENSP00000305556
    HCFC1P516101, 3, ENSP000003095554EBI-1790529,EBI-396176 I2D: score=2 STRING: ENSP00000309555
    ENSG00000206454Q018603, ENSP000003730164I2D: score=1 STRING: ENSP00000373016
    ENSG00000229094Q018603, ENSP000003888424I2D: score=1 STRING: ENSP00000388842
    ENSG00000230336Q018603, ENSP000004000474I2D: score=1 STRING: ENSP00000400047
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    Gene Ontology (GO): 2 biological process terms:    About this table

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

    Find genes that share ontologies with THAP11           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 THAP11 (THA11)



    (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 THAP11 gene: 
    NM_020457.2  

    Unigene Cluster for THAP11:

    THAP domain containing 11
    Hs.632200  [show with all ESTs]
    Unigene Representative Sequence: NM_020457
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000303596(uc002euo.3)
    miRNA
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    hsa-miR-3128 hsa-miR-128 hsa-let-7a-2* hsa-miR-570 hsa-let-7g* hsa-miR-548x hsa-miR-3121-3p hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidTHAP11 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat THAP11

    Additional mRNA sequence: 

    AB015338.1 AK289367.1 BC012182.1 EF036502.1 EU869208.1 L10378.1 L10379.1 

    12 DOTS entries:

    DT.80101932  DT.99990115  DT.100764872  DT.452549  DT.100776509  DT.120718372  DT.120718408  DT.120718478 
    DT.92431075  DT.95291057  DT.95359964  DT.97792421 

    Selected AceView cDNA sequences (see all 146):

    NM_020457 BE048930 BE388513 AI862156 BM005962 AW297394 BM726835 BU541805 
    AI885770 BQ012892 BI857342 D12153 CA436710 AI678308 BM423331 BM044187 
    BU741133 BU622385 AA903311 AI364366 AI625665 BQ961942 AI206144 BE271999 

    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™, 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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    THAP11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTCCTTC
    THAP11 Expression
    About this image


    THAP11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    THAP11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    THAP11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632200
        Custom PCR Arrays for THAP11
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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 THAP11 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thap111 , 5 THAP domain containing 111, 5 88.2(n)1
    95.08(a)1
      8 (53.05 cM)5
    590161  NM_021513.21  NP_067488.11 
     1058551035 
    lizard
    (Anolis carolinensis)
    Reptilia THAP116
    THAP domain containing 11
    67(a)
    1 ↔ 1
    GL343295.1(663769-669360)
    zebrafish
    (Danio rerio)
    Actinopterygii wufa14e042 Danio rerio cDNA clone MGC65871 IMAGE6800403, complete more 81.9(n)    AY398362.1 


    ENSEMBL Gene Tree for THAP11 (if available)
    TreeFam Gene Tree for THAP11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    THA11_HUMAN, Q96EK4: The length of the poly-Gln region is variable in the population

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for THAP11:    About this table    

    Variant IDTypeSubtypePubMed ID
    nsv906813CNV Loss21882294
    nsv524363CNV Loss19592680
    nsv522852CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing THAP11
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    (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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    OMIM gene information: 609119    OMIM disorders: --


    Find genes that share disorders with THAP11           About GenesLikeMe


    Export disorders for THAP11 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 THAP11 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with THAP11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genome Res. 2004)
    2. The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. (PubMed id 12575992)1, 3 Roussigne M....Girard J.P. (Trends Biochem. Sci. 2003)
    3. Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)1, 2 Ueki N.... Muramatsu M.-A. (Nat. Biotechnol. 1998)
    4. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. (PubMed id 8325628)1, 3 Li S.H....Ross C.A. (Genomics 1993)
    5. HCFC1 is a common component of active human CpG-island promoters and coincides with ZNF143, THAP11, YY1, and GABP transcription factor occupancy. (PubMed id 23539139)1 Michaud J....Herr W. (Genome Res. 2013)
    6. NMR studies of a new family of DNA binding proteins: the THAP proteins. (PubMed id 23306615)2 Gervais V.... Milon A. (J. Biomol. NMR 2013)
    7. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    8. Down-regulation of Thanatos-associated protein 11 by BCR-ABL promotes CML cell proliferation through c-Myc expression. (PubMed id 21400515)1 Nakamura S....Ohnishi K. (Int. J. Cancer 2012)
    9. THAP11, a novel binding protein of PCBP1, negatively regulates CD44 alternative splicing and cell invasion in a human hepatoma cell line. (PubMed id 22673507)1 Lian W.X....Yang X.M. (FEBS Lett. 2012)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 57215 HGNC: 23194 AceView: THAP11 Ensembl:ENSG00000168286 euGenes: HUgn57215
    ECgene: THAP11 H-InvDB: THAP11

    (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 THAP11 Pharmacogenomics, SNPs, Pathways

    (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 THAP11 gene:
    Search GeneIP for patents involving THAP11

    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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