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THAP1

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THAP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTHAP1, DYT6, THAP domain containing, apoptosis associated protein 1, THAP domain containing 1
External IDsOMIM: 609520; MGI: 1921004; HomoloGene: 10005; GeneCards: THAP1; OMA:THAP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_199003
NM_018105

NM_199042

RefSeq (protein)

NP_060575
NP_945354

NP_950243

Location (UCSC)Chr 8: 42.84 – 42.84 MbChr 8: 26.65 – 26.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

THAP domain-containing protein 1 is a protein that in humans is encoded by the THAP1 gene. The synonyme is DYT6 (Dystonia 6).[5][6][7]

Function

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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.[7]

Interactions

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THAP1 has been shown to interact with PAWR.[6]

Clinical significance

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Thanatos-associated [THAP] domain-containing apoptosis-associated protein 1 (THAP1) is a DNA-binding protein that has been associated with DYT6 dystonia, a hereditary movement disorder involving sustained, involuntary muscle contractions.[8][9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000131931Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037214Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Roussigne M, Kossida S, Lavigne AC, Clouaire T, Ecochard V, Glories A, Amalric F, Girard JP (Feb 2003). "The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase". Trends in Biochemical Sciences. 28 (2): 66–9. doi:10.1016/S0968-0004(02)00013-0. PMID 12575992.
  6. ^ a b Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard JP (Apr 2003). "THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies". Oncogene. 22 (16): 2432–42. doi:10.1038/sj.onc.1206271. PMID 12717420.
  7. ^ a b "Entrez Gene: THAP1 THAP domain containing, apoptosis associated protein 1".
  8. ^ Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ (Mar 2009). "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia". Nature Genetics. 41 (3): 286–8. doi:10.1038/ng.304. PMID 19182804. S2CID 205348799.
  9. ^ Cem Sengel, Sophie Gavarini, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg (2011): Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain. Journal of Neurochemistry. 2011 Jul 14;: 21752024

Further reading

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  • FactorBook THAP1
  • Link to Wikigenes DYT6 - dystonia 6, torsion (autosomal dominant) [1]
  • Link to Wikigenes THAP1 - THAP domain containing, apoptosis [2]