THAP1

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]

THAP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JTG, 2KO0, 2L1G
Identifiers
Aliases	THAP1, DYT6, THAP domain containing, apoptosis associated protein 1, THAP domain containing 1
External IDs	OMIM: 609520 MGI: 1921004 HomoloGene: 10005 GeneCards: THAP1
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p11.21 Start 42,836,674 bp[1] End 42,843,325 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 A2 Start 26,158,141 bp[2] End 26,164,151 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • metal ion binding • sequence-specific DNA binding • DNA binding • zinc ion binding • GO:0001948 protein binding • identical protein binding • nucleic acid binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • protein homodimerization activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • PML body • intracellular membrane-bounded organelle • cell nucleus • nucleoplasm • fibrillar center Biological process • cell cycle • endothelial cell proliferation • regulation of mitotic cell cycle • transcription, DNA-templated • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55145	73754
Ensembl	ENSG00000131931	ENSMUSG00000037214
UniProt	Q9NVV9	Q8CHW1
RefSeq (mRNA)	NM_199003 NM_018105	NM_199042
RefSeq (protein)	NP_060575 NP_945354	NP_950243
Location (UCSC)	Chr 8: 42.84 – 42.84 Mb	Chr 8: 26.16 – 26.16 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

Interactions

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

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.[8][9]

References

1. GRCh38: Ensembl release 89: ENSG00000131931 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037214 - Ensembl, 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. 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. "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

• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard JP (May 2005). "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. doi:10.1073/pnas.0406882102. PMC 1100732. PMID 15863623.
• 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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 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 (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.

External links

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