ATG16L1: Autophagy Related 16 Like 1
Key regulator of autophagy and inflammatory signaling
Gene Information Card
| Symbol | ATG16L1 |
|---|---|
| Full Name | Autophagy Related 16 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 55054 ncbi.nlm.nih.gov/gene/55054 |
| Ensembl ID | ENSG00000085982 |
| UniProt ID | Q676U5 |
| OMIM ID | 610767 |
| HGNC ID | 21498 |
| Aliases | ATG16L, APG16L, FLJ10035, WDR30 |
Description
ATG16L1 (Autophagy Related 16 Like 1) encodes a component of the autophagy machinery. The protein forms a complex with ATG5 and ATG12, which is essential for autophagosome formation. It also plays a role in the regulation of inflammatory responses and pathogen clearance. Polymorphisms in ATG16L1 are strongly associated with susceptibility to Crohn disease, a form of inflammatory bowel disease (IBD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Crohn disease | Impaired autophagy of intracellular bacteria leads to dysregulated inflammatory response | Strong association (GWAS, functional studies) |
| Inflammatory bowel disease (IBD) | Altered autophagic flux and increased IL-1β production | Genetic association and mechanistic evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Colon | 10.8 | Medium |
| Blood | 8.2 | Medium |
| Spleen | 7.9 | Low |
| Lung | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Moderate expression |
| HEK293 | 12.1 | Moderate expression |
| THP-1 | 9.8 | Low expression |
| Caco-2 | 11.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2241880 (T300A) | Missense | ~50% (global) | Reduced autophagy efficiency, increased susceptibility to Crohn disease |
| rs2241879 | Intronic | ~40% | Associated with altered ATG16L1 expression |
Mutation functional classification
Loss of Function (LOF)
T300A variant reduces autophagic clearance of intracellular bacteria, leading to increased inflammatory cytokine production.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not described for ATG16L1.
View complete mutation data：
Gene Ontology (GO)
| • Autophagy | • Protein homodimerization activity |
| • Ubiquitin-like protein conjugation | • Autophagosome assembly |
| • Response to bacterium | • Innate immune response |
Pathways
• Autophagy (KEGG: hsa04140)
• Selective autophagy
• LC3 conjugation
Protein Summary
ATG16L1 is a 607-amino acid protein containing an N-terminal autophagy-related domain and C-terminal WD40 repeats. It functions as a scaffold for the ATG5-ATG12 conjugation system, targeting the complex to the phagophore membrane. The protein is critical for autophagosome elongation and closure. The common T300A variant (rs2241880) impairs autophagy of intracellular bacteria and is a well-established risk factor for Crohn disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATG16L1 Knockout HEK293 Cell Line | EDJ-KQ1068 | Human | 55054 | Details Get a Quote |
| ATG16L1 Knockout A-549 Cell Line | EDJ-KQ20201 | Human | 55054 | Details Get a Quote |
| ATG16L1 Knockout HCT 116 Cell Line | EDJ-KQ20202 | Human | 55054 | Details Get a Quote |
| ATG16L1 Knockout HeLa Cell Line | EDJ-KQ20203 | Human | 55054 | Details Get a Quote |
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