THAP1
Function
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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the THAP1 family.
Tissue Specificity
Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta.
Cellular localization
- Nucleus
- Nucleoplasm
- Nucleus
- PML body
Alternative names
THAP domain-containing protein 1, THAP1