THAP domain-containing protein 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''THAP1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
. The synonyme is DYT6 (
Dystonia
Dystonia is a neurology, neurological Hyperkinesia, hyperkinetic Movement disorders, movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed po ...
6).
Function
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.
Interactions
THAP1 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...
with
PAWR
PRKC apoptosis WT1 regulator protein, or Prostate apoptosis response-4, is a tumor-suppressor protein coded for in the human by the ''PAWR'' gene, that induces apoptosis in cancer cells, but not in normal cells.
Function
The tumor suppressor ...
.
Clinical significance
Thanatos-associated
HAPdomain-containing apoptosis-associated protein 1 (THAP1) is a DNA-binding protein that has been associated with DYT6
dystonia
Dystonia is a neurology, neurological Hyperkinesia, hyperkinetic Movement disorders, movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed po ...
, a hereditary movement disorder involving sustained, involuntary muscle contractions.
[Cem Sengel, Sophie Gavarini, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg (2011): Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain. Journal of Neurochemistry. 2011 Jul 14;: 21752024]
References
Further reading
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External links
* {{FactorBook, THAP1
* Link to Wikigenes DYT6 - dystonia 6, torsion (autosomal dominant
* Link to Wikigenes THAP1 - THAP domain containing, apoptosi