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; OMA:THAP1 - orthologs
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 26,648,169 bp[2] End 26,654,179 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 26.65 – 26.65 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]