FEATURES

FAMILY

DESCRIPTION

Also known as ATG9A_HUMAN, ATG9A, APG9L1. Phospholipid scramblase involved in autophagy by mediating autophagosomal membrane expansion (PubMed:22456507, PubMed:27510922, PubMed:29437695, PubMed:32513819, PubMed:33468622, PubMed:33850023, PubMed:32610138, PubMed:33106659). Cycles between the preautophagosomal structure/phagophore assembly site (PAS) and the cytoplasmic vesicle pool and supplies membrane for the growing autophagosome (PubMed:16940348, PubMed:22456507, PubMed:33106659). Lipid scramblase activity plays a key role in preautophagosomal structure/phagophore assembly by distributing the phospholipids that arrive through ATG2 (ATG2A or ATG2B) from the cytoplasmic to the luminal leaflet of the bilayer, thereby driving autophagosomal membrane expansion (PubMed:33106659). Also required to supply phosphatidylinositol 4-phosphate to the autophagosome initiation site by recruiting the phosphatidylinositol 4-kinase beta (PI4KB) in a process dependent on ARFIP2, but not ARFIP1 (PubMed:30917996). In addition to autophagy, also plays a role in necrotic cell death (By similarity). Homotrimer; forms a homotrimer with a central pore that forms a path between the two membrane leaflets (PubMed:32610138, PubMed:33106659). Interacts (via cytoplasmic its C-terminus) with ATG2A (PubMed:32610138, PubMed:33106659). Interacts with SUPT20H (PubMed:19893488). Interacts (via the tyrosine-based sorting signal motif) with AP4M1; promoting association with the AP-4 complex (PubMed:29180427). Interacts with ARFIP1 and ARFIP2 (PubMed:30917996). Interacts with PI4K2A and PI4KB (PubMed:30917996).

Also known as ATG9A_HUMAN, ATG9A, APG9L1. Phospholipid scramblase involved in autophagy by mediating autophagosomal membrane expansion (PubMed:22456507, PubMed:27510922, PubMed:29437695, PubMed:3 ...

EXTERNAL LINKS

ATG9A

Mutations

Mutation(s) distribution

Mutations table