ATG16L1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

Function: Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Ref.11

Subunit structure: 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)

By similarity. Interacts with RAB33B

By similarity. Interacts with TMEM59, TLR2 and NOD2. Ref.11

Subcellular location: Cytoplasm

By similarity. Preautophagosomal structure membrane; Peripheral membrane protein

By similarity. Note: Localized to preautophagosomal structure (PAS) where it is involved in the membrane targeting of ATG5

By similarity.

Involvement in disease: Inflammatory bowel disease 10 (IBD10) [MIM:611081]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.2 Ref.12

Sequence similarities: Belongs to the WD repeat ATG16 family.Contains 7 WD repeats.

Sequence caution: The sequence BAB15448.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.The sequence BAB55412.1 differs from that shown. Reason: Erroneous initiation.