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Aliases for THAP1 Gene

Aliases for THAP1 Gene

  • THAP Domain Containing 1 2 3 5
  • THAP Domain Containing, Apoptosis Associated Protein 1 2 3
  • Dystonia 6, Torsion (Autosomal Dominant) 2
  • THAP Domain-Containing Protein 1 3
  • Nuclear Proapoptotic Factor 3
  • THAP Domain Protein 1 3
  • 4833431A01Rik 3
  • DYT6 3

External Ids for THAP1 Gene

Previous HGNC Symbols for THAP1 Gene

  • DYT6

Previous GeneCards Identifiers for THAP1 Gene

  • GC08M042432
  • GC08M042709
  • GC08M042691
  • GC08M041214

Summaries for THAP1 Gene

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 1) is a Protein Coding gene. Diseases associated with THAP1 include Dystonia 6, Torsion and Adolescent-Onset Dystonia Of Mixed Type. GO annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is THAP4.

UniProtKB/Swiss-Prot for THAP1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THAP1 Gene

Genomics for THAP1 Gene

Regulatory Elements for THAP1 Gene

Enhancers for THAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F042893 0.5 FANTOM5 ENCODE 13.2 -52.6 -52615 5.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF143 ZNF207 FOS KLF13 ZNF263 THAP1 HOOK3 FNTA PIR47842
GH08F042892 0.5 ENCODE 12 -49.0 -48976 0.4 PKNOX1 THAP1 HOOK3 PIR47842
GH08F042692 0.7 Ensembl ENCODE 10.7 +150.4 150443 1.0 CTCF ARID4B ZNF2 RAD21 ZNF664 GLIS2 EGR1 PATZ1 ZNF143 SMC3 LOC105379396 THAP1 SLC20A2 CHRNB3 GC08M042590
GH08F043054 0.5 ENCODE 10.4 -213.2 -213205 4.0 PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 HOOK3 IKBKB ENSG00000254673 ENSG00000254198 HGSNAT MIR4469 RNF170 POMK THAP1 FNTA
GH08F043059 0.2 Ensembl 10.4 -216.2 -216170 0.2 ATF3 CEBPG SP7 ENSG00000254673 HOOK3 ENSG00000254198 HGSNAT MIR4469 RNF170 POMK THAP1 GC08P043074 FNTA
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around THAP1 on UCSC Golden Path with GeneCards custom track

Promoters for THAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001390977 231 2600 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for THAP1 Gene

Chromosome:
8
Start:
42,836,674 bp from pter
End:
42,843,331 bp from pter
Size:
6,658 bases
Orientation:
Minus strand

Genomic View for THAP1 Gene

Genes around THAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THAP1 Gene

Proteins for THAP1 Gene

  • Protein details for THAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVV9-THAP1_HUMAN
    Recommended name:
    THAP domain-containing protein 1
    Protein Accession:
    Q9NVV9
    Secondary Accessions:
    • A6NCB6
    • D3DSY5
    • H9KV49
    • Q53FQ1
    • Q6IA99

    Protein attributes for THAP1 Gene

    Size:
    213 amino acids
    Molecular mass:
    24944 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for THAP1 Gene

    Alternative splice isoforms for THAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THAP1 Gene

Post-translational modifications for THAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THAP1 Gene

No data available for DME Specific Peptides for THAP1 Gene

Domains & Families for THAP1 Gene

Gene Families for THAP1 Gene

Protein Domains for THAP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for THAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NVV9

UniProtKB/Swiss-Prot:

THAP1_HUMAN :
  • Belongs to the THAP1 family.
  • Contains 1 THAP-type zinc finger.
Family:
  • Belongs to the THAP1 family.
Similarity:
  • Contains 1 THAP-type zinc finger.
genes like me logo Genes that share domains with THAP1: view

Function for THAP1 Gene

Molecular function for THAP1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for THAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IDA 15863623
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with THAP1: view
genes like me logo Genes that share phenotypes with THAP1: view

Human Phenotype Ontology for THAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for THAP1 Gene

miRTarBase miRNAs that target THAP1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for THAP1 Gene

Localization for THAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THAP1 Gene

Nucleus, nucleoplasm. Nucleus, PML body.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for THAP1 Gene COMPARTMENTS Subcellular localization image for THAP1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for THAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17003378
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IDA --
GO:0016605 PML body IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with THAP1: view

Pathways & Interactions for THAP1 Gene

SuperPathways for THAP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for THAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001935 endothelial cell proliferation IMP 17003378
GO:0006351 transcription, DNA-templated IMP 17003378
GO:0006355 regulation of transcription, DNA-templated IMP 17003378
GO:0007049 cell cycle IEA --
GO:0007346 regulation of mitotic cell cycle IMP 17003378
genes like me logo Genes that share ontologies with THAP1: view

No data available for Pathways by source and SIGNOR curated interactions for THAP1 Gene

Transcripts for THAP1 Gene

Unigene Clusters for THAP1 Gene

THAP domain containing, apoptosis associated protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for THAP1 Gene

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

Relevant External Links for THAP1 Gene

GeneLoc Exon Structure for
THAP1
ECgene alternative splicing isoforms for
THAP1

Expression for THAP1 Gene

mRNA expression in normal human tissues for THAP1 Gene

Protein differential expression in normal tissues from HIPED for THAP1 Gene

This gene is overexpressed in Platelet (55.3) and Pancreas (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for THAP1 Gene



Protein tissue co-expression partners for THAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of THAP1 Gene:

THAP1

SOURCE GeneReport for Unigene cluster for THAP1 Gene:

Hs.7432

mRNA Expression by UniProt/SwissProt for THAP1 Gene:

Q9NVV9-THAP1_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta.
genes like me logo Genes that share expression patterns with THAP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for THAP1 Gene

Orthologs for THAP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for THAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THAP1 34 35
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia THAP1 34 35
  • 93.9 (n)
oppossum
(Monodelphis domestica)
Mammalia THAP1 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thap1 34
  • 83.65 (n)
cow
(Bos Taurus)
Mammalia THAP1 34 35
  • 83.57 (n)
mouse
(Mus musculus)
Mammalia Thap1 34 16 35
  • 82.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia THAP1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves THAP1 34 35
  • 75.74 (n)
lizard
(Anolis carolinensis)
Reptilia THAP1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thap1 34
  • 66.99 (n)
Str.10047 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3565 34
zebrafish
(Danio rerio)
Actinopterygii thap1 35
  • 44 (a)
OneToOne
Species where no ortholog for THAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for THAP1 Gene

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

Paralogs for THAP1 Gene

Paralogs for THAP1 Gene

(4) SIMAP similar genes for THAP1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with THAP1: view

Variants for THAP1 Gene

Sequence variations from dbSNP and Humsavar for THAP1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs118204013 Dystonia 6, torsion (DYT6) [MIM:602629], Pathogenic 42,839,212(-) CAATA(C/T)TTCTT intron-variant, reference, missense
rs138918468 Dystonia 6, torsion (DYT6) [MIM:602629] 42,838,108(+) CTGTG(C/T)GGTCT reference, missense, utr-variant-3-prime
rs267607111 Dystonia 6, torsion (DYT6) [MIM:602629], Pathogenic 42,839,187(-) TGACA(A/G)GGTAA intron-variant, reference, missense
rs267607112 Dystonia 6, torsion (DYT6) [MIM:602629], Pathogenic 42,843,070(-) CCTAC(G/T)GCTGC reference, missense
rs372080941 Dystonia 6, torsion (DYT6) [MIM:602629] 42,839,215(+) AAATA(C/T)TGTGG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for THAP1 Gene

Variant ID Type Subtype PubMed ID
nsv483102 CNV loss 15286789

Variation tolerance for THAP1 Gene

Residual Variation Intolerance Score: 54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 3.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THAP1 Gene

Human Gene Mutation Database (HGMD)
THAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THAP1 Gene

Disorders for THAP1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for THAP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia 6, torsion
  • dyt6
adolescent-onset dystonia of mixed type
  • dystonia 6
dystonia
  • dystonic disease
spasmodic dysphonia
  • laryngeal dystonia
spasmodic dystonia
  • laryngeal dystonia
- elite association - COSMIC cancer census association via MalaCards
Search THAP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THAP1_HUMAN
  • 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. {ECO:0000269 PubMed:19182804, ECO:0000269 PubMed:19345147, ECO:0000269 PubMed:19908320, ECO:0000269 PubMed:19908325, ECO:0000269 PubMed:20083799, ECO:0000269 PubMed:20211909, ECO:0000269 PubMed:20629133, ECO:0000269 PubMed:20669277, ECO:0000269 PubMed:20687191, ECO:0000269 PubMed:20825472, ECO:0000269 PubMed:21110056, ECO:0000269 PubMed:21425335, ECO:0000269 PubMed:21425341, ECO:0000269 PubMed:21800139, ECO:0000269 PubMed:21839475, ECO:0000269 PubMed:21847143, ECO:0000269 PubMed:22377579, ECO:0000269 PubMed:25385508, ECO:0000269 Ref.3}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for THAP1

Genetic Association Database (GAD)
THAP1
Human Genome Epidemiology (HuGE) Navigator
THAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
THAP1
genes like me logo Genes that share disorders with THAP1: view

No data available for Genatlas for THAP1 Gene

Publications for THAP1 Gene

  1. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis- response-4 (Par-4) to PML nuclear bodies. (PMID: 12717420) Roussigne M. … Girard J.-P. (Oncogene 2003) 2 3 4 22 64
  2. Novel THAP1 sequence variants in primary dystonia. (PMID: 20083799) Xiao J. … LeDoux M.S. (Neurology 2010) 3 4 46 64
  3. Prevalence of THAP1 sequence variants in German patients with primary dystonia. (PMID: 20669277) Sohn A.S. … Grundmann K. (Mov. Disord. 2010) 3 4 46 64
  4. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. (PMID: 20211909) Houlden H. … Bhatia K.P. (Neurology 2010) 3 4 46 64
  5. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. (PMID: 19182804) Fuchs T. … Ozelius L.J. (Nat. Genet. 2009) 2 3 4 64

Products for THAP1 Gene

Sources for THAP1 Gene

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