DISEASES

Disease-gene associations mined from literature

UVRAG disease associations

UVRAG [ENSP00000348455]

UV radiation resistance-associated gene protein; Versatile protein that is involved in regulation of different cellular pathways implicated in membrane trafficking. Involved in regulation of the COPI-dependent retrograde transport from Golgi and the endoplasmic reticulum by associating with the NRZ complex; the function is dependent on its binding to phosphatidylinositol 3- phosphate (PtdIns(3)P) (PubMed:16799551, PubMed:18552835, PubMed:20643123, PubMed:24056303, PubMed:28306502). During autophagy acts as regulatory subunit of the alternative PI3K complex II (PI3KC3- C2) that mediates formation of phosphatidylinositol 3-phosphate and is believed to be involved in maturation of autophagosomes and endocytosis. Activates lipid kinase activity of PIK3C3 . Involved in the regulation of degradative endocytic trafficking and cytokinesis, and in regulation of ATG9A transport from the Golgi to the autophagosome; the functions seems to implicate its association with PI3KC3-C2 . Involved in maturation of autophagosomes and degradative endocytic trafficking independently of BECN1 but depending on its association with a class C Vps complex (possibly the HOPS complex); the association is also proposed to promote autophagosome recruitment and activation of Rab7 and endosome-endosome fusion events . Enhances class C Vps complex (possibly HOPS complex) association with a SNARE complex and promotes fusogenic SNARE complex formation during late endocytic membrane fusion . In case of negative- strand RNA virus infection is required for efficient virus entry, promotes endocytic transport of virions and is implicated in a VAMP8- specific fusogenic SNARE complex assembly .

Synonyms:  UVRAG,  E9PK00,  E9PR71,  H0YDD1,  Q9P2Y5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM