THAP1

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. [provided by RefSeq]

THAP domain containing, apoptosis associated protein 1

DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.

Biological Process cell cycleSource:UniProtKB-KW
Biological Process DNA-templated transcriptionSource:UniProtKB1 Publication
Biological Process endothelial cell proliferationSource:UniProtKB1 Publication
Biological Process negative regulation of transcription by RNA polymerase IISource:NTNU_SB1 Publication
Biological Process regulation of DNA-templated transcriptionSource:UniProtKB1 Publication
Biological Process regulation of mitotic cell cycleSource:UniProtKB1 Publication
Biological Process regulation of transcription by RNA polymerase IISource:GO_Central1 Publication

Nucleus, nucleoplasm
Nucleus, PML body

Dystonia 6, torsion (DYT6):
A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.