Disease-gene associations mined from literature

Literature associating OTULIN and panniculitis

OTULIN [ENSP00000284274]

OTU domain-containing deubiquitinase with linear linkage specificity; Deubiquitinase that specifically removes linear ('Met- 1'-linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response. Associates with the LUBAC complex via direct interaction with RNF31 and counteracts its action by cleaving linear polyubiquitin chains to substrates. Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex. Acts as a negative regulator of NF- kappa-B by counteracting activity of the LUBAC complex. Required for homeostasis of the LUBAC complex by restricting autoubiquination of the LUBAC complex subunit RNF31. Some results have suggested that OTULIN function is restricted to homeostasis of the LUBAC complex, because it is not stably associated with TNF or NOD2 receptor signaling complexes (RSCs). However, further report have shown that it plays active roles in receptor signaling. Acts as a key negative regulator of inflammation by restricting spontaneous inflammation and maintaining immune homeostasis. In myeloid cell, required to prevent unwarranted secretion of cytokines leading to inflammation and autoimmunity by restricting linear polyubiquitin formation. Plays a key role in innate immune response by restricting linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation, probably to limit NOD2-dependent proinflammatory signaling; Belongs to the peptidase C65 family. Otulin subfamily.

Synonyms:  OTULIN,  D6RD57,  Q96BN8,  D6RD57p,  hD6RD57 ...

Linkouts:  STRING  Pharos  UniProt