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Description

Sequestosome-1 (UniProt: Q13501, also known as EBI3-associated protein of 60 kDa, EBIAP, p60, Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa, Ubiquitin-binding protein p62) is encoded by the SQSTM1 (also known as ORCA, OSIL) gene (Gene ID 8878) in human. Sequestosome-1 is a multifunctional protein that binds ubiquitin and regulates the activation of the nuclear factor kappa-B (NF-kappaB) signaling pathway. It functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 (TRAF6) to mediate the activation of NF-kappaB in response to upstream signals. Defects in sequestosome-1 are a cause of Paget disease of bone (PDB), a metabolic bone disease affecting the axial skeleton and is characterized by focal areas of increased and disorganized bone turn-over due to activated osteoclasts. Mutations in SQSTM1 gene can lead to frontotemporal dementia and/or amyotrophic lateral sclerosis 3. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.