THAP domain containing apoptosis associated protein 1
THAP domain containing protein 1
THAP domain protein 1
THAP domain-containing protein 1
FunctionDNA-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. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.
Involvement in diseaseDefects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:602629]. DYT6 is 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.
Sequence similaritiesBelongs to the THAP1 family. Contains 1 THAP-type zinc finger.