Family

THAP domain-containing protein 1 (IPR026516)

Short name: THAP1

Family relationships

None.

Description

The THAP domain is a C2CH module with zinc-dependent sequence-specific DNA-binding activity [PMID: 15863623]. Several THAP domain-containing proteins have been described. Human THAP1 is a transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression [PMID: 7003378]. It 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. It is a component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. It may also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis [PMID: 12717420, PMID: 17003378, PMID: 20200153].

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 characterised by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions [PMID: 21110056, PMID: 21425335, PMID: 21839475, PMID: 20825472].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER