THAP1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

PDBOrtholog search: PDBe RCSB
AliasesTHAP1, DYT6, THAP domain containing, apoptosis associated protein 1, THAP domain containing 1
Quick facts Available structures, PDB ...
THAP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTHAP1, DYT6, THAP domain containing, apoptosis associated protein 1, THAP domain containing 1
External IDsOMIM: 609520; MGI: 1921004; HomoloGene: 10005; GeneCards: THAP1; OMA:THAP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_199003
NM_018105

NM_199042

RefSeq (protein)

NP_060575
NP_945354

NP_950243

Location (UCSC)Chr 8: 42.84 – 42.84 MbChr 8: 26.65 – 26.65 Mb
PubMed search[3][4]
Wikidata
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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

Further reading

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