DISEASES

Disease-gene associations mined from literature

Literature associating RUBCNL and cervix disease

RUBCNL [ENSP00000396935]

Protein associated with UVRAG as autophagy enhancer; Regulator of autophagy that promotes autophagosome maturation by facilitating the biogenesis of phosphatidylinositol 3-phosphate (PtdIns(3)P) in late steps of autophagy (PubMed:28306502, PubMed:30704899). Acts by antagonizing RUBCN, thereby stimulating phosphatidylinositol 3-kinase activity of the PI3K/PI3KC3 complex . Following anchorage to the autophagosomal SNARE STX17, promotes the recruitment of PI3K/PI3KC3 and HOPS complexes to the autophagosome to regulate the fusion specificity of autophagosomes with late endosomes/lysosomes . Binds phosphoinositides phosphatidylinositol 3-phosphate (PtdIns(3)P), 4- phosphate (PtdIns(4)P) and 5-phosphate (PtdIns(5)P) . In addition to its role in autophagy, acts as a regulator of lipid and glycogen homeostasis (By similarity). May act as a tumor suppressor (Probable).

Synonyms:  RUBCNL,  A0A0A0MRV7,  A8XR14,  B7ZBN5,  E7EMA2 ...

Linkouts:  STRING  Pharos  UniProt