Activating Signal Cointegrator 1 Complex Subunit 1 (ASCC1) is a protein-coding gene that plays a crucial role in transcriptional regulation and DNA damage repair. The ASCC1 gene encodes a subunit of the Activating Signal Cointegrator 1 (ASC-1) complex, which is involved in gene transactivation by multiple transcription factors, including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB), and serum response factor (SRF) .
The ASCC1 protein contains an N-terminal KH-type RNA-binding motif, which is essential for its role in AP-1 transactivation by the ASC-1 complex . The ASC-1 complex is a tetrameric complex that includes other subunits such as TRIP4 (ASC1), ASCC2, and ASCC3 . This complex can act as both a coactivator and a corepressor, depending on the context, and is involved in pre-mRNA processing and regulation of splicing .
ASCC1 is involved in several critical biological pathways, including DNA damage reversal and homologous recombination repair (HRR) or single-strand annealing (SSA) . It plays a role in the cellular response to DNA damage and is essential for maintaining genomic stability . Additionally, ASCC1 is implicated in the regulation of gene expression in response to gastrin-activated paracrine signals, particularly in the induction of SERPINB2 expression .
Mutations in the ASCC1 gene are associated with several diseases, including Barrett esophagus and esophageal adenocarcinoma . Furthermore, ASCC1 is linked to spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a rare genetic disorder characterized by severe muscle weakness and bone fractures .
The human recombinant form of ASCC1 is used in various research applications to study its function and role in disease. Recombinant proteins are produced through genetic engineering techniques, allowing researchers to investigate the protein’s structure, function, and interactions in a controlled environment. This research is essential for developing potential therapeutic strategies targeting ASCC1-related pathways and diseases.