Aliases for LNX1 Gene
External Ids for LNX1 Gene
Previous HGNC Symbols for LNX1 Gene
Previous GeneCards Identifiers for LNX1 Gene
This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for LNX1 Gene
LNX1 (Ligand Of Numb-Protein X 1) is a Protein Coding gene. Diseases associated with LNX1 include usher syndrome, type 1c and autoimmune enteropathy. Among its related pathways are Immune System and Kit Receptor Signaling Pathway. GO annotations related to this gene include ligase activity and PDZ domain binding. An important paralog of this gene is PDZD2.
UniProtKB/Swiss-Prot for LNX1 Gene
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65 (By similarity).
Isoform 2 provides an endocytic scaffold for IGSF5/JAM4.