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THAP7 Gene

protein-coding   GIFtS: 46
GCID: GC22M021353

THAP Domain Containing 7

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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 71 2
THAP Domain-Containing Protein 72

External Ids:    HGNC: 231901   Entrez Gene: 807642   Ensembl: ENSG000001844367   OMIM: 6095185   UniProtKB: Q9BT493   

Export aliases for THAP7 gene to outside databases

Previous GC identifers: GC22M019678 GC22M004622


(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 THAP7 Gene:
THAP7 (THAP domain containing 7) is a protein-coding gene. GO annotations related to this gene include C2H2 zinc finger domain binding and protein N-terminus binding.

UniProtKB/Swiss-Prot: THAP7_HUMAN, Q9BT49
Function: Chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3
and nuclear hormone receptor corepressors

Gene Wiki entry for THAP7 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_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the THAP7 gene promoter:
         p53   Lmo2   MyoD   Olf-1   Pax-2   CUTL1   Pax-2a   MIF-1   c-Ets-1   Pax-2b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTHAP7 promoter sequence
   Search Chromatin IP Primers for THAP7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat THAP7


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

Entrez Gene cytogenetic band: 22q11.2   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

THAP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THAP7 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M021353:  view genomic region     (about GC identifiers)

Start:
21,353,393 bp from pter      End:
21,356,485 bp from pter
Size:
3,093 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: THAP7_HUMAN, Q9BT49 (See protein sequence)
Recommended Name: THAP domain-containing protein 7  
Size: 309 amino acids; 34414 Da
Subunit: Interacts with HDAC3 and nuclear hormone receptor corepressors
Secondary accessions: B2RD97 D3DX40

Explore the universe of human proteins at neXtProt for THAP7: NX_Q9BT49

Explore proteomics data for THAP7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See THAP7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001008695.1  NP_085050.2  

    ENSEMBL proteins: 
     ENSP00000215742   ENSP00000382084  

    THAP7 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

    2 InterPro protein domains:
     IPR026519 THAP7
     IPR006612 Znf_C2CH

    Graphical View of Domain Structure for InterPro Entry Q9BT49

    ProtoNet protein and cluster: Q9BT49

    UniProtKB/Swiss-Prot: THAP7_HUMAN, Q9BT49
    Similarity: Contains 1 THAP-type zinc finger


    Find genes that share domains with THAP7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: THAP7_HUMAN, Q9BT49
    Function: Chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3
    and nuclear hormone receptor corepressors

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0046872metal ion binding IEA--
    GO:0047485protein N-terminus binding IPI17577209
    GO:0070742C2H2 zinc finger domain binding IDA17577209
         
    Find genes that share ontologies with THAP7           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for THAP7

    miRNA
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    miRTarBase miRNAs that target THAP7:
    hsa-mir-16-5p (MIRT051196), hsa-mir-193b-3p (MIRT041375)

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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
    THAP7_HUMAN, Q9BT49: Nucleus. Chromosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular2
    cytoskeleton1
    cytosol1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005694chromosome IEA--
    GO:0016607nuclear speck IDA17577209

    Find genes that share ontologies with THAP7           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 THAP7
    Interactions:

        GeneGlobe Interaction Network for THAP7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for THAP7 (Q9BT492, 3 ENSP000002157424) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0045892negative regulation of transcription, DNA-templated IDA17577209

    Find genes that share ontologies with THAP7           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 THAP7



    (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 THAP7 gene (3 alternative transcripts): 
    NM_001008696.1  NM_001008695.1  NM_030573.2  

    Unigene Cluster for THAP7:

    THAP domain containing 7
    Hs.512756  [show with all ESTs]
    Unigene Representative Sequence: AK024609
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498406 ENST00000215742(uc002zts.1) ENST00000471073 ENST00000399133(uc002ztr.1)
    ENST00000476667 ENST00000466670 ENST00000488975 ENST00000471723
    miRNA
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    hsa-miR-183
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    Additional mRNA sequence: 

    AK024609.1 AK025906.1 AK300715.1 AK315457.1 BC004346.1 CR456343.1 

    21 DOTS entries:

    DT.100844487  DT.452213  DT.102840430  DT.85105373  DT.100711945  DT.100844474  DT.100844478  DT.100844491 
    DT.100658699  DT.100772056  DT.97807924  DT.97845803  DT.95221873  DT.120667977  DT.97845804  DT.100663213 
    DT.100802112  DT.100808092  DT.100844488  DT.75176386  DT.108347 

    Selected AceView cDNA sequences (see all 257):

    NM_030573 BM919759 BQ267940 AI380772 BX444284 BU782953 AK025906 CD105957 
    BU552453 CB242040 CR597191 CR605890 CR602822 BP368954 CR612368 BC004346 
    CR594592 BM976580 BX099067 BG760461 CR611968 CB126758 BG762824 BF972786 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for THAP7 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g
    SP1:                    -           -     -     -     -     -     -     -                 -                                                               
    SP2:                    -           -     -     -     -     -     -     -           -     -     -                                                         
    SP3:                                -     -     -     -     -     -     -                 -                                                               
    SP4:                                                              -     -                 -                                                               
    SP5:                                                        -     -     -                 -                                                               


    ECgene alternative splicing isoforms for THAP7

    (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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    THAP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGAGGGG
    THAP7 Expression
    About this image

    THAP7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    THAP7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512756
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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 THAP7 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thap71 , 5 THAP domain containing 71, 5 89(n)1
    92.88(a)1
      16 (10.86 cM)5
    690091  NM_026909.21  NP_081185.11 
     175279825 
    chicken
    (Gallus gallus)
    Aves THAP71 THAP domain containing 7 64.82(n)
    64.82(a)
      776094  XM_001235649.3  XP_001235650.2 
    lizard
    (Anolis carolinensis)
    Reptilia THAP76
    THAP domain containing 7
    60(a)
    1 ↔ 1
    6(78771256-78775854)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.102372 Transcribed sequence with moderate similarity to protein more 69.6(n)    BX689880.1 
    zebrafish
    (Danio rerio)
    Actinopterygii thap71 THAP domain containing 7 48.91(n)
    44.83(a)
      100006965  NM_001103198.1  NP_001096668.1 


    ENSEMBL Gene Tree for THAP7 (if available)
    TreeFam Gene Tree for THAP7 (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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    Selected SNPs for THAP7 (see all 13)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37470841,2
    C,F,H--21353925(+) TCTGAG/AGGGTG 2 -- ds500119Minor allele frequency- A:0.08EA NS NA CSA WA 4008
    rs1862100171,2
    C--21354151(+) CCCTCG/AGTCAG 2 -- ut311Minor allele frequency- A:0.00EU 995
    rs2018718071,2
    --21354152(+) CCTCGA/GTCAGT 2 -- ut310--------
    rs125741,2
    C,F--21354158(+) TCAGTC/GCAGCA 2 -- ut31 ese34Minor allele frequency- G:0.02MN NA WA EU 1403
    rs4269381,2,4
    ----see VAR_0602772 mis40--------
    rs3750310701,2
    ----21354166(+) GCAGCC/TCCTCA 2 -- ut310--------
    rs3734912811,2
    ----21354164(+) CAGCAA/GCCCTC 2 -- ut310--------
    rs3706402951,2
    ----21354165(+) AGCAGC/TCCCTC 2 -- ut310--------
    rs2001090891,2
    ----21354125(+) AAGAGG/ACTGCA 2 -- ut311Minor allele frequency- A:0.00EU 353
    rs3701981541,2
    ----21354138(+) CTTGCC/TGGGCA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for THAP7 (21353393 - 21356485 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for THAP7 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678175CNV Deletion23128226
    nsv436864CNV Insertion17901297
    nsv834141CNV Loss17160897
    nsv523162CNV Loss19592680
    nsv914428CNV Loss21882294
    dgv4872n71CNV Loss21882294
    nsv828960CNV Loss20364138
    nsv471185CNV Loss18288195
    dgv4873n71CNV Loss21882294
    nsv914423CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing THAP7
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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: 609518    OMIM disorders: --


    Find genes that share disorders with THAP7           About GenesLikeMe


    Export disorders for THAP7 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 THAP7 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with THAP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human THAP7 is a chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressor. (PubMed id 15561719)1, 2 Macfarlan T....Chakravarti D. (J. Biol. Chem. 2005)
    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. (Genome Res. 2004)
    3. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    4. 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)
    5. Thanatos-associated protein 7 associates with template activating factor-Ibeta and inhibits histone acetylation to repress transcription. (PubMed id 16195249)1, 9 Macfarlan T....Chakravarti D. (Mol. Endocrinol. 2006)
    6. 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)
    7. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (Cell 2010)

    (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: 80764 HGNC: 23190 AceView: THAP7 Ensembl:ENSG00000184436 euGenes: HUgn80764
    ECgene: THAP7 H-InvDB: THAP7

    (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)
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    NameDescription
    PharmGKB entry for THAP7 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 THAP7 gene:
    Search GeneIP for patents involving THAP7

    GeneCards and IP:
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    (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, eBioscience, antibodies-online, 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
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