Biology:THAP1
 Generic protein structure example |
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.[3]
Interactions
THAP1 has been shown to interact with PAWR.[2]
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]
References
- ↑ "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. doi:10.1016/S0968-0004(02)00013-0. PMID 12575992.
- ↑ 2.0 2.1 "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. doi:10.1038/sj.onc.1206271. PMID 12717420.
- ↑ 3.0 3.1 "Entrez Gene: THAP1 THAP domain containing, apoptosis associated protein 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55145.
- ↑ "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia". Nature Genetics 41 (3): 286–8. Mar 2009. doi:10.1038/ng.304. PMID 19182804.
- ↑ 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
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "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. doi:10.1073/pnas.0406882102. PMID 15863623. Bibcode: 2005PNAS..102.6907C.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. Oct 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–14. May 2006. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
External links
- FactorBook THAP1
- Link to Wikigenes DYT6 - dystonia 6, torsion (autosomal dominant) [1]
- Link to Wikigenes THAP1 - THAP domain containing, apoptosis [2]
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