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Aliases for THAP1 Gene

Aliases for THAP1 Gene

  • THAP Domain Containing, Apoptosis Associated Protein 1 2 3
  • DYT6 3 6
  • Dystonia 6, Torsion (Autosomal Dominant) 2
  • THAP Domain-Containing Protein 1 3
  • Nuclear Proapoptotic Factor 3
  • THAP Domain Protein 1 3
  • 4833431A01Rik 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, Apoptosis Associated Protein 1) is a Protein Coding gene. Diseases associated with THAP1 include dystonia 6, torsion and dystonia 6. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is THAP3.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for THAP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for THAP1 Gene at MOPED

Post-translational modifications for THAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THAP1 Gene

Antibody Products

No data available for DME Specific Peptides for THAP1 Gene

Domains for THAP1 Gene

Gene Families for THAP1 Gene

HGNC:
  • THAP :THAP (C2CH-type zinc finger) domain containing

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 :
  • Q9NVV9
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 --
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IDA 15863623
GO:0042802 identical protein binding IPI 16189514
GO:0043565 sequence-specific DNA binding IMP 19182804
genes like me logo Genes that share ontologies with THAP1: view

Phenotypes for THAP1 Gene

GenomeRNAi human phenotypes for THAP1:
genes like me logo Genes that share phenotypes with THAP1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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 IDA 17003378
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with THAP1: view

Pathways 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 for THAP1 Gene

Transcripts for THAP1 Gene

Unigene Clusters for THAP1 Gene

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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for THAP1

Primer 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 for THAP1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for THAP1 Gene

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 expressions with THAP1: view

Expression partners for THAP1 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia THAP1 35
  • 83.57 (n)
  • 96.24 (a)
THAP1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia THAP1 35
  • 93.9 (n)
  • 97.65 (a)
THAP1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Thap1 35
  • 82.54 (n)
  • 90.48 (a)
Thap1 16
Thap1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia THAP1 35
  • 99.84 (n)
  • 100 (a)
THAP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thap1 35
  • 83.65 (n)
  • 89.52 (a)
oppossum
(Monodelphis domestica)
Mammalia THAP1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia THAP1 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves THAP1 35
  • 75.74 (n)
  • 78.87 (a)
THAP1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THAP1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10047 35
thap1 35
  • 66.99 (n)
  • 67.8 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3565 35
zebrafish
(Danio rerio)
Actinopterygii thap1 36
  • 44 (a)
OneToOne
Species with no ortholog for THAP1:
  • 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

Selected 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 MAF
rs1298675 -- 42,836,323(+) cctcc(C/T)gggtt downstream-variant-500B
rs3211072 -- 42,839,243(-) AACAA(G/T)TTACT reference, missense, intron-variant
rs4299997 -- 42,841,771(+) TTACA(A/C/G)AAATT intron-variant
rs4737076 -- 42,841,288(+) AACAG(G/T)TGTAT intron-variant
rs10107916 -- 42,840,153(+) TCATT(A/C)CACTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv890846 CNV Gain 21882294

Relevant External Links for THAP1 Gene

HapMap Linkage Disequilibrium report
THAP1
Human Gene Mutation Database (HGMD)
THAP1
Locus Specific Mutation Databases (LSDB)
THAP1

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

Disorders for THAP1 Gene

(1) OMIM Diseases for THAP1 Gene (609520)

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

No data available for Novoseek inferred disease relationships and 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 23
  2. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. (PMID: 15863623) Clouaire T. … Girard J.-P. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23
  3. 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
  4. Novel THAP1 sequence variants in primary dystonia. (PMID: 20083799) Xiao J. … LeDoux M.S. (Neurology 2010) 3 4 48
  5. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. (PMID: 20211909) Houlden H. … Bhatia K.P. (Neurology 2010) 3 4 48

Products for THAP1 Gene

Sources for THAP1 Gene

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