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

THAP1 Gene

protein-coding   GIFtS: 56
GCID: GC08M042691

THAP Domain Containing, Apoptosis Associated Protein 1

(Previous names: dystonia 6, torsion (autosomal dominant))
(Previous symbol: DYT6)
  See 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)
About This Section

Aliases
THAP Domain Containing, Apoptosis Associated Protein 11 2     Nuclear Proapoptotic Factor2
DYT61 2 5     THAP Domain Protein 12
Dystonia 6, Torsion (Autosomal Dominant)1     THAP Domain-Containing Protein 12
4833431A01Rik2     

External Ids:    HGNC: 208561   Entrez Gene: 551452   Ensembl: ENSG000001319317   OMIM: 6095205   UniProtKB: Q9NVV93   

Export aliases for THAP1 gene to outside databases

Previous GC identifers: GC08M042432 GC08M042709 GC08M042810 GC08M041214


(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 THAP1 Gene:
The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes
with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a
proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding
distinct isoforms have been observed. (provided by RefSeq, Jul 2008)

GeneCards Summary for THAP1 Gene: 
THAP1 (THAP domain containing, apoptosis associated protein 1) is a protein-coding gene. Diseases associated with THAP1 include familial dystonia, and spasmodic dysphonia. GO annotations related to this gene include sequence-specific DNA binding and zinc ion binding. An important paralog of this gene is THAP3.

UniProtKB/Swiss-Prot: THAP1_HUMAN, Q9NVV9
Function: DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle
progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating
expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that
is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by
potentiating both serum-withdrawal and TNF-induced apoptosis

Gene Wiki entry for THAP1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the THAP1 gene promoter:
         AP-1   ATF-2   c-Jun   GATA-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTHAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for THAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat THAP1


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

Entrez Gene cytogenetic band: 8p11.21   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p11.1

THAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THAP1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M042691:  view genomic region     (about GC identifiers)

Start:
42,691,817 bp from pter      End:
42,698,474 bp from pter
Size:
6,658 bases      Orientation:
minus 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: THAP1_HUMAN, Q9NVV9 (See protein sequence)
Recommended Name: THAP domain-containing protein 1  
Size: 213 amino acids; 24944 Da
Subunit: Interacts with PAWR. Component of a THAP1/THAP3-HCFC1-OGT complex that contains, either THAP1 or THAP3,
HCFC1 and OGT. Interacts with OGT. Interacts (via the HBM) with HCFC1 (via the Kelch-repeat domain); the
interaction recruits HCFC1 to the RRM1 promoter
Subcellular location: Nucleus, nucleoplasm. Nucleus, PML body
3 PDB 3D structures from and Proteopedia for THAP1:
2JTG (3D)        2KO0 (3D)        2L1G (3D)    
Secondary accessions: A6NCB6 D3DSY5 H9KV49 Q53FQ1 Q6IA99
Alternative splicing: 2 isoforms:  Q9NVV9-1   Q9NVV9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for THAP1: NX_Q9NVV9

Explore proteomics data for THAP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NVV9

  • THAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    THAP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_060575.1  NP_945354.1  

    ENSEMBL proteins: 
     ENSP00000254250   ENSP00000344966   ENSP00000433912  

    Human Recombinant Protein Products for THAP1: 
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    ProSpec Recombinant Protein for THAP1
    Cloud-Clone Corp. Proteins for THAP1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17003378
    GO:0016605PML body IEA--

    THAP1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for THAP1


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

    2 InterPro protein domains:
     IPR006612 Znf_C2CH
     IPR026516 THAP1

    Graphical View of Domain Structure for InterPro Entry Q9NVV9

    ProtoNet protein and cluster: Q9NVV9

    UniProtKB/Swiss-Prot: THAP1_HUMAN, Q9NVV9
    Similarity: Belongs to the THAP1 family
    Similarity: Contains 1 THAP-type zinc finger


    THAP1 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: THAP1_HUMAN, Q9NVV9
    Function: DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle
    progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating
    expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that
    is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by
    potentiating both serum-withdrawal and TNF-induced apoptosis

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IDA15863623
    GO:0043565sequence-specific DNA binding IMP19182804
         
    THAP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for THAP1:
     Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for THAP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for THAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for THAP1 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTHAP1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THAP1


    (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 THAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/582 Interacting proteins for THAP1 (Q9NVV92, 3 ENSP000002542504) via UniProtKB, MINT, STRING, and/or I2D (see all 582)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP2B1P630102, 3, ENSP000003144144MINT-67315 I2D: score=5 STRING: ENSP00000314414
    C1orf35Q9BU762, 3, ENSP000002721394MINT-66905 I2D: score=5 STRING: ENSP00000272139
    DVL2O146412, 3, ENSP000000053404MINT-68378 I2D: score=5 STRING: ENSP00000005340
    FXR2P511162, 3, ENSP000002501134MINT-66457 I2D: score=5 STRING: ENSP00000250113
    PHF1O431892, 3MINT-68124 I2D: score=5 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001935endothelial cell proliferation IMP17003378
    GO:0006351transcription, DNA-dependent IMP17003378
    GO:0006355regulation of transcription, DNA-dependent IMP17003378
    GO:0007049cell cycle IEA--
    GO:0007346regulation of mitotic cell cycle IMP17003378

    THAP1 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 THAP1

    Search CenterWatch for drugs/clinical trials and news about THAP1

    (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,
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    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 THAP1 gene (2 alternative transcripts): 
    NM_018105.2  NM_199003.1  

    Unigene Cluster for THAP1:

    THAP domain containing, apoptosis associated protein 1
    Hs.7432  [show with all ESTs]
    Unigene Representative Sequence: NM_018105
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254250(uc003xpk.3 uc003xpl.3) ENST00000345117 ENST00000529779
    ENST00000532093
    miRNA
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    hsa-miR-429 hsa-miR-589* hsa-miR-4282 hsa-miR-374c hsa-miR-144 hsa-miR-200c hsa-miR-655 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidTHAP1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat THAP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat THAP1

    Additional mRNA sequence: 

    AK001339.1 AK223231.1 AL832077.1 BC021721.2 CR457256.1 

    4 DOTS entries:

    DT.105920  DT.100022310  DT.95271442  DT.100716740 

    24/73 AceView cDNA sequences (see all 73):

    AA768676 AL582975 NM_199003 CR607366 AI475984 BM544773 BI833227 BQ774093 
    AA278401 NM_018105 AI497677 BU178224 BC021721 CN482444 AI095609 AA427973 
    BX372323 BG563619 BG180519 CB995843 BM925989 CA449343 CR457256 BG497522 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for THAP1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:              -               


    ECgene alternative splicing isoforms for THAP1

    (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

    THAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTCCTATT
    THAP1 Expression
    About this image


    See THAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for THAP1

    SOURCE GeneReport for Unigene cluster: Hs.7432

    UniProtKB/Swiss-Prot: THAP1_HUMAN, Q9NVV9
    Tissue specificity: Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and
    placenta

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for THAP1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thap11 , 5 THAP domain containing, apoptosis associated protein more1, 5 84.6(n)1
    93.81(a)1
      8 (14.40 cM)5
    737541  NM_199042.21  NP_950243.11 
     261582125 
    chicken
    (Gallus gallus)
    Aves THAP11 THAP domain containing, apoptosis associated protein more 77(n)
    81.69(a)
      431620  XM_429172.2  XP_429172.2 
    lizard
    (Anolis carolinensis)
    Reptilia THAP16
    Uncharacterized protein
    76(a)
    1 ↔ 1
    GL343339.1(849653-856006)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.35652 Xenopus laevis transcribed sequence with moderate similarity more 75.77(n)    BX845877.1 
    zebrafish
    (Danio rerio)
    Actinopterygii thap16
    THAP domain containing, apoptosis associated prote...
    43(a)
    1 ↔ 1
    5(790771-798713)


    ENSEMBL Gene Tree for THAP1 (if available)
    TreeFam Gene Tree for THAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for THAP1 gene
    THAP32  ENSG000002580642  THAP22  THAP52  THAP82  
    4 SIMAP similar genes for THAP1 using alignment to 2 protein entries:     THAP1_HUMAN (see all proteins):
    THAP3    DKFZP564I0422    THAP2    THAP8

    THAP1 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

    10/230 SNPs in THAP1 are shown (see all 230)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666834
    Dystonia 6 (DYT6)4--see VAR_0666832 D G mis40--------
    VAR_0666924
    Dystonia 6 (DYT6)4--see VAR_0666922 H N mis40--------
    VAR_0666864
    Dystonia 6 (DYT6)4--see VAR_0666862 P L mis40--------
    VAR_0673564
    Dystonia 6 (DYT6)4--see VAR_0673562 A D mis40--------
    VAR_0667024
    Dystonia 6 (DYT6)4--see VAR_0667022 I T mis40--------
    VAR_0666844
    Dystonia 6 (DYT6)4--see VAR_0666842 H P mis40--------
    VAR_0666814
    Dystonia 6 (DYT6)4--see VAR_0666812 R H mis40--------
    VAR_0673574
    Dystonia 6 (DYT6)4--see VAR_0673572 S C mis40--------
    VAR_0667034
    Dystonia 6 (DYT6)4--see VAR_0667032 H P mis40--------
    VAR_0667004
    Dystonia 6 (DYT6)4--see VAR_0667002 Y C mis40--------

    HapMap Linkage Disequilibrium report for THAP1 (42691817 - 42698474 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for THAP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv890846CNV Gain21882294


    Human Gene Mutation Database (HGMD): THAP1

    Locus Specific Mutation Databases (LSDB): THAP1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing THAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for THAP1

    (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
    OMIM gene information: 609520   
    OMIM disorders: 602629  
    UniProtKB/Swiss-Prot: THAP1_HUMAN, Q9NVV9
  • Dystonia 6 (DYT6) [MIM:602629]: A primary torsion dystonia. Dystonia is defined by the presence of
    sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized
    by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression
    to involve multiple body regions. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 13 diseases for THAP1:    About MalaCards
    familial dystonia    spasmodic dysphonia    dystonia 6    dystonia 6, torsion
    early-onset primary dystonia    torsion dystonia    dystonia musculorum deformans    blepharospasm
    aicardi-goutieres syndrome    leukemia    endotheliitis    cervicitis
    prostatitis

    5 diseases from the University of Copenhagen DISEASES database for THAP1:
    Familial dystonia     Movement disease     Deafness dystonia syndrome     Eyelid disease
    Aicardi-Goutieres syndrome

    THAP1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): THAP1
    Human Genome Epidemiology (HuGE) Navigator: THAP1 (7 documents)

    Export disorders for THAP1 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 THAP1 gene, integrated from 9 sources (see all 59):
    (articles sorted by number of sources associating them with THAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis- response-4 (Par-4) to PML nuclear bodies. (PubMed id 12717420)1, 2, 3, 9 Roussigne M.... Girard J.-P. (2003)
    2. THAP1 mutations (DYT6) are an additional cause of ear ly-onset dystonia. (PubMed id 20211909)1, 2, 4 Houlden H....Bhatia K.P. (2010)
    3. Prevalence of THAP1 sequence variants in German patie nts with primary dystonia. (PubMed id 20669277)1, 2, 4 SAPhn A.S....Grundmann K. (2010)
    4. Novel THAP1 sequence variants in primary dystonia. (PubMed id 20083799)1, 2, 4 Xiao J....LeDoux M.S. (2010)
    5. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. (PubMed id 19182804)1, 2, 3 Fuchs T.... Ozelius L.J. (2009)
    6. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. (PubMed id 15863623)1, 2, 9 Clouaire T....Girard J.P. (2005)
    7. Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases. (PubMed id 22377579)1, 2 Ledoux M.S.... Zhao Y. (2012)
    8. Novel THAP1 gene mutations in patients with primary dystonia from Southwest China. (PubMed id 21839475)1, 2 Song W.... Shang H.F. (2011)
    9. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. (PubMed id 21800139)1, 2 Cheng F.B....Wang L. (2011)
    10. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. (PubMed id 21425335)1, 2 Schneider S.A.... Lohmann K. (2011)

    (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)
    About This Section
    Entrez Gene: 55145 HGNC: 20856 AceView: THAP1 Ensembl:ENSG00000131931 euGenes: HUgn55145
    ECgene: THAP1 H-InvDB: THAP1

    (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 THAP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for THAP1 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
    Patent Information for THAP1 gene:
    Search GeneIP for patents involving THAP1

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



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