DISEASES

Disease-gene associations mined from literature

Literature associating THAP1 and basal ganglia disease

THAP1 [ENSP00000254250]

THAP domain containing, apoptosis associated protein 1; 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; THAP domain containing

Synonyms:  THAP1,  THAP1p,  hTHAP1,  E9PIS9,  Q9NVV9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM