PIGBOS1 Gene: Function, Expression, and Disease Associations | Biomedical Database

PIGBOS1 (PIGB Opposite Strand 1) is a protein-coding gene located on chromosome 18q21.2. It is transcribed from the opposite strand of the PIGB gene, hence its name. The gene encodes a small protein of 106 amino acids that is localized to the mitochondrial outer membrane. PIGBOS1 has been implicated in the regulation of the unfolded protein response (UPR) by interacting with the mitochondrial protein CLCC1, thereby modulating cellular stress responses. Its expression is relatively ubiquitous across tissues, with notable levels in the thyroid and adrenal glands. While no direct disease-causing mutations have been extensively characterized, its role in UPR suggests potential involvement in cancer and metabolic disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Unfolded Protein Response (UPR) - mitochondrial branch

• Mitochondrial stress signaling

PIGBOS1 is a 106-amino acid protein with a single transmembrane domain, localized to the mitochondrial outer membrane. It interacts with CLCC1, a chloride channel protein, to negatively regulate the unfolded protein response (UPR) during endoplasmic reticulum stress. This interaction is crucial for maintaining cellular homeostasis under stress conditions. The protein is widely expressed, with highest levels in endocrine tissues. Its role in UPR suggests potential implications in cancer and metabolic diseases, though clinical evidence is still emerging.