Aliases for SHARPIN Gene
External Ids for SHARPIN Gene
Previous GeneCards Identifiers for SHARPIN Gene
GeneCards Summary for SHARPIN Gene
SHARPIN (SHANK Associated RH Domain Interactor) is a Protein Coding gene. Diseases associated with SHARPIN include Branchiootic Syndrome. Among its related pathways are Protein-protein interactions at synapses and TNF signaling (REACTOME). GO annotations related to this gene include identical protein binding and polyubiquitin binding. An important paralog of this gene is RBCK1.
UniProtKB/Swiss-Prot for SHARPIN Gene
Component of the LUBAC complex which conjugates linear polyubiquitin chains in a head-to-tail manner to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with FAM105B/otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis.