DISEASES

Disease-gene associations mined from literature

Literature on OTULIN

OTULIN [ENSP00000284274]

Ubiquitin thioesterase otulin; Deubiquitinase that specifically removes linear ('Met-1'- linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response (PubMed:26997266, PubMed:23708998, PubMed:23746843, PubMed:23806334, PubMed:23827681, PubMed:27523608, PubMed:27559085, PubMed:24726323, PubMed:24726327, PubMed:28919039). 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 regulating the activity of the LUBAC complex . OTULIN function is mainly restricted to homeostasis of the LUBAC complex: acts by removing 'Met- 1'-linked autoubiquitination of the LUBAC complex, thereby preventing inactivation of the LUBAC complex . 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 role in innate immune response by restricting linear polyubiquitin formation on LUBAC complex in response to NOD2 stimulation, probably to limit NOD2- dependent proinflammatory signaling . ECO:0000269|PubMed:23806334, ECO:0000269|PubMed:23827681, ECO:0000269|PubMed:24726323, ECO:0000269|PubMed:24726327, ECO:0000269|PubMed:26670046, ECO:0000269|PubMed:26997266, ECO:0000269|PubMed:27523608, ECO:0000269|PubMed:27559085,; Belongs to the peptidase C65 family. Otulin subfamily.

Synonyms:  OTULIN,  D6RD57,  H0Y8S4,  H0Y9T0,  Q96BN8 ...

Linkouts:  STRING  Pharos  UniProt