Human Gene ATG16L1 (ENST00000392020.8) Description and Page Index
Description: Homo sapiens autophagy related 16 like 1 (ATG16L1), transcript variant 2, mRNA. (from RefSeq NM_017974) RefSeq Summary (NM_017974): 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]. Gencode Transcript: ENST00000392020.8 Gencode Gene: ENSG00000085978.22 Transcript (Including UTRs) Position: hg38 chr2:233,251,706-233,295,674 Size: 43,969 Total Exon Count: 17 Strand: + Coding Region Position: hg38 chr2:233,251,828-233,294,350 Size: 42,523 Coding Exon Count: 17
ID:A16L1_HUMAN DESCRIPTION: RecName: Full=Autophagy-related protein 16-1; AltName: Full=APG16-like 1; FUNCTION: Plays an essential role in autophagy (By similarity). 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) (By similarity). Interacts with RAB33B (By similarity). INTERACTION: Q9GZQ8:MAP1LC3B; NbExp=2; IntAct=EBI-535909, EBI-373144; Q9BXW4:MAP1LC3C; NbExp=4; IntAct=EBI-535909, EBI-2603996; 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). 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. SIMILARITY: Belongs to the WD repeat ATG16 family. SIMILARITY: Contains 7 WD repeats. SEQUENCE CAUTION: Sequence=BAB15448.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB55412.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q676U5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.