THAP domain-containing protein 1 (THAP1)

THAP domain-containing protein 1 is a human DNA-binding transcription factor featuring a THAP domain, a type of C2CH zinc finger that coordinates a zinc ion via conserved cysteine and histidine residues. This domain allows the protein to bind particular DNA sequences, notably a consensus bipartite TxxGGGx(A/T) motif. THAP1 regulates gene expression, which is important for cell cycle progression, apoptosis, and cell proliferation. It interacts with other nuclear proteins such as PAWR in nuclear bodies. It is the causative gene for DYT6 dystonia, a rare, inherited movement disorder characterized by involuntary muscle contractions and speech impairment. Mutations in THAP1 disrupt DNA binding, directly linking its function to the disease phenotype. As a member of the THAP protein family, it plays diverse roles across eukaryotic development, though direct pharmacological targeting has not been established. It is not typically considered a receptor, enzyme, or transporter, but is therapeutically relevant due to its disease association.

Other names

DYT6Thanatos-associated protein domain-containing apoptosis-associated protein 1

No drugs directly target THAP1; mechanism relates to DNA binding and transcription regulation.