THAP3 Human
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Description
Product Specs
Product Science Overview
THAP Domain Containing, Apoptosis Associated Protein 3, also known as THAP3, is a protein encoded by the THAP3 gene in humans. This protein is part of the THAP (Thanatos-associated protein) domain-containing family, which is involved in various cellular processes, including transcriptional regulation and apoptosis.
The THAP3 gene is located on chromosome 1 at the cytogenetic location 1p36.31. It spans approximately 10,727 base pairs and contains six exons . The gene produces multiple mRNA variants through alternative splicing, resulting in different isoforms of the THAP3 protein .
The THAP3 protein contains a THAP domain, which is a conserved DNA-binding domain found in several proteins involved in apoptosis and cell cycle regulation. Additionally, THAP3 has a host-cell factor 1C (HCFC1) binding motif, which is crucial for its role in transcriptional regulation .
THAP3 is involved in the regulation of transcription by RNA polymerase II. It forms a complex with THAP1, HCFC1, and OGT (O-linked N-acetylglucosamine transferase), which is essential for regulating the transcriptional activity of RRM1 (ribonucleotide reductase M1), a key enzyme in DNA synthesis .
The protein is ubiquitously expressed in various tissues, with the highest expression levels observed in the kidneys. It is also expressed in other organs, including the liver, spleen, adrenal gland, and reproductive organs . THAP3 plays a role in neuronal development and has been implicated in various cellular processes, including apoptosis and cell proliferation .
Mutations or dysregulation of the THAP3 gene have been associated with certain diseases. For example, THAP3 has been linked to cerebrooculofacioskeletal syndrome 4, a rare genetic disorder characterized by developmental abnormalities . Additionally, alterations in THAP3 expression may contribute to the pathogenesis of certain cancers and other diseases involving abnormal cell proliferation and apoptosis .
Recombinant THAP3 protein is used in various research applications to study its function and role in cellular processes. It is also utilized in the development of therapeutic strategies targeting diseases associated with THAP3 dysregulation. Understanding the molecular mechanisms underlying THAP3’s function can provide insights into potential therapeutic targets for treating related disorders.
