Q9NVV9.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
THAP domain-containing protein 1
NCBI Official Synonym Full Names
THAP domain containing, apoptosis associated protein 1
NCBI Official Synonym Symbols
NCBI Protein Information
THAP domain-containing protein 1; 4833431A01Rik; THAP domain protein 1; nuclear proapoptotic factor
UniProt Protein Name
THAP domain-containing protein 1
UniProt Entry Name
THAP1_HUMAN
NCBI Summary for THAP1
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]
UniProt Comments for THAP1
THAP1: 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. Defects in THAP1 are the cause of dystonia type 6 (DYT6). 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. Belongs to the THAP1 family.
Protein type: DNA-binding; Cell cycle regulation; Transcription factor
Chromosomal Location of Human Ortholog: 8p11.21
Cellular Component: PML body; nucleus
Molecular Function: protein binding; zinc ion binding; sequence-specific DNA binding
Biological Process: transcription, DNA-dependent; regulation of transcription, DNA-dependent; endothelial cell proliferation; regulation of mitotic cell cycle; cell cycle
Disease: Dystonia 6, Torsion
Research Articles on THAP1
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Products associated with anti-THAP1 antibody
Diseases associated with anti-THAP1 antibody
Organs/Tissues associated with anti-THAP1 antibody
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