THAP1 cDNA Clone – THAP Domain Containing, Apoptosis Associated Protein 1 (Human)

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, Jul 2008]

THAP1: 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-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis. Defects in THAP1 are the cause of dystonia type 6 (DYT6). 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. Belongs to the THAP1 family.

Protein type: DNA-binding; Cell cycle regulation; Transcription factor

Chromosomal Location of Human Ortholog: 8p11.21

Cellular Component: intracellular membrane-bound organelle; nucleolus; nucleus

Molecular Function: identical protein binding; protein binding; sequence-specific DNA binding; zinc ion binding

Biological Process: endothelial cell proliferation; regulation of mitotic cell cycle; regulation of transcription, DNA-dependent; transcription, DNA-dependent

Disease: Dystonia 6, Torsion