Family with sequence similarity 177 member A1 (FAM177A1)

Family with sequence similarity 177 member A1 (FAM177A1) is a conserved and ubiquitously expressed human protein localized primarily to the Golgi complex and the endoplasmic reticulum[2][3][4][5]. Its best-characterized biological function is as a negative regulator of the interleukin-1β (IL-1β) inflammatory signaling pathway, where FAM177A1 binds competitively to the E3 ubiquitin ligase TRAF6, preventing the recruitment of the E2 enzyme Ubc13, thereby reducing polyubiquitination and NF-κB–mediated inflammatory gene activation[1][3][4]. Loss of function of FAM177A1 causes a novel autosomal-recessive neurodevelopmental disorder characterized by macrocephaly, global developmental delay, intellectual disability, seizures, hypotonia, and gait disturbance, implicating it in essential brain and immune system regulation[2][4]. In addition, high expression of FAM177A1 has been linked to increased breast cancer recurrence risk, suggesting a possible role as a disease biomarker[1]. Presently, the protein is not classified as a traditional drug target such as a receptor, enzyme, or transporter, and no approved drugs are known to interact directly with it[1][3][4][5].

Other names

FAM177A1C14orf24family with sequence similarity 177 member A1LOC101927178NEDWMGprotein FAM177A1