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 Dystonia. Gene Ontology (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 Summary 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-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.