| Gene Symbol | SHARPIN |
|---|---|
| Entrez Gene | 81858 |
| Alt Symbol | SIPL1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | SHANK-associated RH domain interactor |
| Other Description | hSIPL1|shank-associated RH domain-interacting protein|shank-interacting protein-like 1|sharpin |
| Swissprots | Q9H0F6 Q8N2E7 A6NEG3 C0L3L2 Q8IXF5 D3DWL3 Q8TB25 Q8IXF6 Q9BUE4 |
| Accessions | CAI72172 EAW82150 EAW82151 EAW82152 EAW82153 EAW82154 EAW82155 EAW82156 Q9H0F6 AB052764 BAC53797 AB052765 BAC53798 AK075518 BAC11666 AL136816 CAB66750 BC002688 AAH02688 BC017230 AAH17230 BC025244 AAH25244 BC034028 AAH34028 BE877614 BI911222 CN260986 DQ583527 FJ655995 ACN38058 NM_030974 NP_112236 NR_038270 |
| Function | 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. {ECO:0000269|PubMed:21455173, ECO:0000269|PubMed:21455180, ECO:0000269|PubMed:21455181}. |
| Subcellular Location | Cytoplasm, cytosol {ECO:0000269|PubMed:20179993}. Cell junction, synapse {ECO:0000250}. Note=Enriched at synaptic sites in mature neurons where it colocalizes with SHANK1. {ECO:0000250}. |
| Tissue Specificity | Highly expressed in skeletal muscle and placenta and at lower levels in brain, heart, colon without mucosa, thymus, spleen, kidney, liver, small intestine, lung and peripheral blood leukocytes. Up-regulated in various tumor tissues such as kidney, liver, ovary and pancreas tumors. {ECO:0000269|PubMed:20179993}. |