Aliases for LRSAM1 Gene
External Ids for LRSAM1 Gene
Previous GeneCards Identifiers for LRSAM1 Gene
This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
GeneCards Summary for LRSAM1 Gene
LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1) is a Protein Coding gene. Diseases associated with LRSAM1 include Charcot-Marie-Tooth Disease, Axonal, Type 2P and Charcot-Marie-Tooth Disease. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and hormone activity. An important paralog of this gene is LRRC8B.
UniProtKB/Swiss-Prot for LRSAM1 Gene
E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recognition protein that defends the cytoplasm from invasive pathogens (PubMed:23245322). Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy) (PubMed:23245322, PubMed:25484098).