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).^[5]^[6]^[7]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000131931 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^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.
^ ^a ^b "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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