ATG10 Gene - Autophagy Related 10: Function, Mutations, and Disease Associations

ATG10 (Autophagy Related 10) encodes an E2-like enzyme that catalyzes the conjugation of ATG12 to ATG5, a critical step in autophagosome elongation. This protein is essential for autophagy, a lysosomal degradation pathway that removes damaged organelles and protein aggregates. ATG10 functions as a ubiquitin-like conjugating enzyme, forming a thioester intermediate with ATG12 before transferring it to ATG5. The ATG12-ATG5 conjugate then associates with ATG16L1 to form a complex that promotes LC3 lipidation. ATG10 is widely expressed and its dysfunction is linked to neurodegenerative disorders, cancer, and inflammatory diseases.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Autophagy - animal (KEGG: hsa04140)

• Regulation of autophagy (Reactome: R-HSA-1632852)

• LC3/GABARAP conjugation (Reactome: R-HSA-5672003)

ATG10 is a 278-amino acid protein (UniProt Q9H0Y0) belonging to the ubiquitin-conjugating enzyme family. It contains a conserved active site cysteine (Cys165) that forms a thioester intermediate with ATG12. The protein is predominantly cytoplasmic and localizes to the phagophore assembly site. Structural studies reveal a canonical UBC fold with an extended N-terminal region. ATG10 interacts directly with ATG12 and ATG5, and its activity is essential for autophagosome membrane expansion. Post-translational modifications include phosphorylation, which may regulate its stability and function.