Aliases for SQSTM1 Gene
External Ids for SQSTM1 Gene
Previous HGNC Symbols for SQSTM1 Gene
Previous GeneCards Identifiers for SQSTM1 Gene
This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]
GeneCards Summary for SQSTM1 Gene
SQSTM1 (Sequestosome 1) is a Protein Coding gene. Diseases associated with SQSTM1 include paget disease of bone and periostitis. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and protein serine/threonine kinase activity.
UniProtKB/Swiss-Prot for SQSTM1 Gene
Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family. Required both for the formation and autophagic degradation of polyubiquitin-containing bodies, called ALIS (aggresome-like induced structures) and links ALIS to the autophagic machinery. Involved in midbody ring degradation. May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels.