Aliases for LRSAM1 Gene
External Ids 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 mixed malaria and autosomal dominant charcot-marie-tooth disease type 2p. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity and hormone activity. An important paralog of this gene is LRRC30.
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.