ID:THAP1_HUMAN DESCRIPTION: RecName: Full=THAP domain-containing protein 1; FUNCTION: 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. SUBUNIT: Interacts with PAWR. Component of a THAP1/THAP3-HCFC1-OGT complex that contains, either THAP1 or THAP3, HCFC1 and OGT. Interacts with OGT. Interacts (via the HBM) with HCFC1 (via the Kelch-repeat domain); the interaction recruits HCFC1 to the RRM1 promoter. SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Nucleus, PML body. TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta. DISEASE: Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:602629]. 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 characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions. SIMILARITY: Belongs to the THAP1 family. SIMILARITY: Contains 1 THAP-type zinc finger.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NVV9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0005515 protein binding GO:0008270 zinc ion binding GO:0042802 identical protein binding GO:0042803 protein homodimerization activity GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001935 endothelial cell proliferation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007049 cell cycle GO:0007346 regulation of mitotic cell cycle
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
