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THAP1 Gene

protein-coding   GIFtS: 55
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 dystonia musculorum deformans, and familial dystonia. GO annotations related to this gene include sequence-specific DNA 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_167187.2  
Regulatory elements:
   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 Chromatin IP Primers for THAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See THAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000254250   ENSP00000344966   ENSP00000433912  

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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:
     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,
    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: 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:    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:
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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
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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
    THAP1_HUMAN, Q9NVV9: Nucleus, nucleoplasm. Nucleus, PML body
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

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

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

    THAP1 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for THAP1
    Interactions:

        GeneGlobe Interaction Network for THAP1

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

    Selected 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001935endothelial cell proliferation IMP17003378
    GO:0006351transcription, DNA-templated IMP17003378
    GO:0006355regulation of transcription, DNA-templated 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, 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
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    Browse Tocris compounds for 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,
    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 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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    Selected qRT-PCR Assays for microRNAs that regulate THAP1 (see all 10):
    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
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      QuantiTect SYBR Green Assays in human, mouse, rat THAP1
      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 

    Selected AceView cDNA sequences (see all 73):

    AA768676 AL582975 NM_018105 AI475984 BC021721 BI833227 AI095609 NM_199003 
    BU178224 BQ774093 AI497677 CR607366 CN482444 AA278401 BM544773 BM750060 
    AL601236 BI599493 AU126861 BI666740 BI917852 BQ437482 BF001958 BM925989 

    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™, 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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    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

    THAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    THAP1 Protein Expression

    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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    (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 THAP1 gene from Selected 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 82.54(n)1
    90.48(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 75.74(n)
    78.87(a)
      431620  XM_004949341.1  XP_004949398.1 
    lizard
    (Anolis carolinensis)
    Reptilia THAP16
    THAP domain containing, apoptosis associated prote...
    77(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...
    44(a)
    1 ↔ 1
    5(790771-798713) ENSDARG00000059020


    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)
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    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), 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 THAP1 (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, torsion (DYT6)4--see VAR_0666832 D G mis40--------
    VAR_0666924
    Dystonia 6, torsion (DYT6)4--see VAR_0666922 H N mis40--------
    VAR_0666864
    Dystonia 6, torsion (DYT6)4--see VAR_0666862 P L mis40--------
    VAR_0673564
    Dystonia 6, torsion (DYT6)4--see VAR_0673562 A D mis40--------
    VAR_0667024
    Dystonia 6, torsion (DYT6)4--see VAR_0667022 I T mis40--------
    VAR_0666844
    Dystonia 6, torsion (DYT6)4--see VAR_0666842 H P mis40--------
    VAR_0666814
    Dystonia 6, torsion (DYT6)4--see VAR_0666812 R H mis40--------
    VAR_0673574
    Dystonia 6, torsion (DYT6)4--see VAR_0673572 S C mis40--------
    VAR_0667034
    Dystonia 6, torsion (DYT6)4--see VAR_0667032 H P mis40--------
    VAR_0667004
    Dystonia 6, torsion (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609520   
    OMIM disorders: 602629  
    UniProtKB/Swiss-Prot: THAP1_HUMAN, Q9NVV9
  • Dystonia 6, torsion (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

  • 17 diseases for THAP1:    
    About MalaCards
    dystonia musculorum deformans    familial dystonia    spasmodic dysphonia    dyt1 early-onset primary dystonia
    dystonia 6, torsion    dystonia 6    deafness dystonia syndrome    torsion dystonia
    blepharospasm    aicardi-goutieres syndrome    leukemia    ataxia
    endotheliitis    cervicitis    multiple myeloma    myeloma
    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)
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    PubMed articles for THAP1 gene, integrated from 10 sources (see all 61):
    (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. (Oncogene 2003)
    2. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. (PubMed id 20211909)1, 2, 4 Houlden H.... Bhatia K.P. (Neurology 2010)
    3. Prevalence of THAP1 sequence variants in German patients with primary dystonia. (PubMed id 20669277)1, 2, 4 Sohn A.S.... Grundmann K. (Mov. Disord. 2010)
    4. Novel THAP1 sequence variants in primary dystonia. (PubMed id 20083799)1, 2, 4 Xiao J....LeDoux M.S. (Neurology 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. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    7. 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. (J. Neurol. 2012)
    8. Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases. (PubMed id 22377579)1, 2 Ledoux M.S.... Zhao Y. (Parkinsonism Relat. Disord. 2012)
    9. Identification and functional analysis of novel THAP1 mutations. (PubMed id 21847143)1, 2 Lohmann K.... Bruggemann N. (Eur. J. Hum. Genet. 2012)
    10. Novel THAP1 gene mutations in patients with primary dystonia from Southwest China. (PubMed id 21839475)1, 2 Song W.... Shang H.F. (J. Neurol. Sci. 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)
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    Entrez Gene: 55145 HGNC: 20856 AceView: THAP1 Ensembl:ENSG00000131931 euGenes: HUgn55145
    ECgene: THAP1 H-InvDB: THAP1

    (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 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.)
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    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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