Aliases for THAP1 Gene
External Ids for THAP1 Gene
Previous HGNC Symbols for THAP1 Gene
Previous GeneCards Identifiers for THAP1 Gene
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]
GeneCards Summary for THAP1 Gene
THAP1 (THAP Domain Containing 1) is a Protein Coding gene. Diseases associated with THAP1 include Dystonia 6, Torsion and Adolescent-Onset Dystonia Of Mixed Type. GO annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is THAP2.
UniProtKB/Swiss-Prot for THAP1 Gene
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.