MIB E3 ubiquitin protein ligase 1
Annotations refreshed 1 month ago.
Moderate Evidence (Amber)
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
Left Ventricular Noncompaction Cardiomyopathy
left ventricular noncompaction
Abnormality of the skeletal system
hypercholesterolemia, familial, 1
musculoskeletal system disorder
Alzheimer disease
hereditary disease
familial hypertrophic cardiomyopathy
diabetes mellitus
type 2 diabetes mellitus
dilated cardiomyopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
E3 ubiquitin-protein ligase MIB1
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
MIB1 · Q86YT6
Mean pLDDT
83.6/ 100
Confident
1,006 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
