DISEASES

Disease-gene associations mined from literature

ATG14 disease associations

ATG14 [ENSP00000247178]

Beclin 1-associated autophagy-related key regulator; Required for both basal and inducible autophagy. Determines the localization of the autophagy-specific PI3-kinase complex PI3KC3-C1 . Plays a role in autophagosome formation and MAP1LC3/LC3 conjugation to phosphatidylethanolamine . Promotes BECN1 translocation from the trans-Golgi network to autophagosomes . Enhances PIK3C3 activity in a BECN1-dependent manner. Essential for the autophagy-dependent phosphorylation of BECN1 . Stimulates the phosphorylation of BECN1, but suppresses the phosphorylation PIK3C3 by AMPK . Binds to STX17-SNAP29 binary t-SNARE complex on autophagosomes and primes it for VAMP8 interaction to promote autophagosome-endolysosome fusion . Modulates the hepatic lipid metabolism (By similarity). ECO:0000269|PubMed:18843052, ECO:0000269|PubMed:19050071, ECO:0000269|PubMed:19270696, ECO:0000269|PubMed:20713597,; Belongs to the ATG14 family.

Synonyms:  ATG14,  ATG14p,  hATG14,  Q6ZNE5,  Q6ZNE5p ...

Linkouts:  STRING  Pharos  UniProt  OMIM