THAP1

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; OMA:THAP1 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	42,843,325 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	26,654,179 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; gonad; ; testicle; ; muscle of thigh; ; Achilles tendon; ; buccal mucosa cell; ; Epithelium of choroid plexus; ; monocyte; ; gastrocnemius muscle; ; ganglionic eminence;
	Top expressed in
	primary oocyte; ; spermatocyte; ; interventricular septum; ; secondary oocyte; ; otolith organ; ; zygote; ; trigeminal ganglion; ; utricle; ; otic vesicle; ; hand;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	metal ion binding; sequence-specific DNA binding; DNA binding; zinc ion binding; protein binding; identical protein binding; nucleic acid binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; protein homodimerization activity; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	PML body; intracellular membrane-bounded organelle; 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 by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	55145
	73754
	ENSG00000131931
	ENSMUSG00000037214
	Q9NVV9
	Q8CHW1
	NM_199003; NM_018105
	NM_199042
	NP_060575; NP_945354
	NP_950243
	Wikidata
View/Edit Human	View/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).⁵⁶⁷

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.⁸⁹

References

GRCh38: Ensembl release 89: ENSG00000131931 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000037214 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: THAP1 THAP domain containing, apoptosis associated protein 1".
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.
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

External links

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000131931 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid12575992-5] 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.

[pmid12717420-6] 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.

[entrez-7] "Entrez Gene: THAP1 THAP domain containing, apoptosis associated protein 1".

[pmid19182804-8] 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

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Function

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External links