disease:Genetic variations in ATG16L1 are associated with susceptibility to inflammatory bowel disease type 10 (IBD10) [MIM:611081]. IBD is characterized by a chronic relapsing intestinal inflammation. IBD is subdivided into Crohn disease (CD) and ulcerative colitis phenotypes. IBD10 individuals show the phenotype characteristic to CD. It may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. CD is commonly classified as autoimmune disease.,function:Plays an essential role in autophagy.,sequence caution:Wrong choice of CDS.,similarity:Belongs to the WD repeat ATG16 family.,similarity:Contains 7 WD repeats.,subcellular location:Localized to preautophagosomal structure (PAS) where it is involved in the membrane targeting of ATG5.,subunit:Homooligomer. Interacts with ATG5. Part of either the minor and major complexes respectively composed of 4 sets of ATG12-ATG5 and ATG16L1 (400 kDa) or 8 sets of ATG12-ATG5 and ATG16L1 (800 kDa).,
Cytoplasm . Preautophagosomal structure membrane ; Peripheral membrane protein . Endosome membrane ; Peripheral membrane protein . Lysosome membrane ; Peripheral membrane protein . Recruited to omegasomes membranes by WIPI2 (By similarity). Omegasomes are endoplasmic reticulum connected strutures at the origin of preautophagosomal structures (By similarity). Localized to preautophagosomal structure (PAS) where it is involved in the membrane targeting of ATG5 (By similarity). Localizes also to discrete punctae along the ciliary axoneme (By similarity). Upon activation of non-canonical autophagy, recruited to single-membrane endolysosomal compartments (PubMed:29317426). .
Brain,Colon,Epithelium,Fetal brain,Human lung,Mammary gland,Placenta,Small
下载说明书
