THAP1 explained

THAP domain-containing protein 1 is a protein that in humans is encoded by the THAP1 gene. The synonyme is DYT6 (Dystonia 6).^{[1] [2] [3]}

Function

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.

Interactions

THAP1 has been shown to interact with PAWR.

Clinical significance

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.^{[4] [5]}

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . Jan 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . Oct 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard JP . The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity . Proceedings of the National Academy of Sciences of the United States of America . 102 . 19 . 6907–12 . May 2005 . 15863623 . 1100732 . 10.1073/pnas.0406882102 . 2005PNAS..102.6907C . free .
• Huda Zoghbi . Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . Oct 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY . A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration . Cell . 125 . 4 . 801–14 . May 2006 . 16713569 . 10.1016/j.cell.2006.03.032 . 13709685 . free .

External links

• • Link to Wikigenes DYT6 - dystonia 6, torsion (autosomal dominant) http://www.wikigenes.org/e/gene/e/1865.html
• Link to Wikigenes THAP1 - THAP domain containing, apoptosis http://www.wikigenes.org/e/gene/e/55145.html

Notes and References

1. Roussigne M, Kossida S, Lavigne AC, Clouaire T, Ecochard V, Glories A, Amalric F, Girard JP . 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 . Feb 2003 . 12575992 . 10.1016/S0968-0004(02)00013-0 .
2. Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard JP . THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies . Oncogene . 22 . 16 . 2432–42 . Apr 2003 . 12717420 . 10.1038/sj.onc.1206271 . free .
3. Web site: Entrez Gene: THAP1 THAP domain containing, apoptosis associated protein 1.
4. Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ . Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia . Nature Genetics . 41 . 3 . 286–8 . Mar 2009 . 19182804 . 10.1038/ng.304 . 205348799 .
5. 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