DISEASES

Disease-gene associations mined from literature

Literature associating MIB1 and left ventricular noncompaction

MIB1 [ENSP00000261537]

Zinc finger ZZ type with ankyrin repeat domain protein 2; E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF- induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in kinase activation; Ankyrin repeat domain containing

Synonyms:  MIB1,  MIB1p,  hMIB1,  B3KRA8,  MIB1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM