DISEASES

Disease-gene associations mined from literature

Literature on WIPI1

WIPI1 [ENSP00000262139]

WD repeat domain phosphoinositide-interacting protein 1; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation . Plays an important role in starvation- and calcium- mediated autophagy, as well as in mitophagy . Functions downstream of the ULK1 and PI3-kinases that produce phosphatidylinositol 3-phosphate (PtdIns3P) on membranes of the endoplasmic reticulum once activated . Binds phosphatidylinositol 3-phosphate (PtdIns3P), and maybe other phosphoinositides including PtdIns3,5P2 and PtdIns5P, and is recruited to phagophore assembly sites at the endoplasmic reticulum membranes . There, it assists WIPI2 in the recruitment of ATG12- ATG5-ATG16L1, a complex that directly controls the elongation of the nascent autophagosomal membrane . Involved in xenophagy of Staphylococcus aureus. Invading S.aureus cells become entrapped in autophagosome-like WIPI1 positive vesicles targeted for lysosomal degradation. Plays also a distinct role in controlling the transcription of melanogenic enzymes and melanosome maturation, a process that is distinct from starvation-induced autophagy. May also regulate the trafficking of proteins involved in the mannose-6- phosphate receptor (MPR) recycling pathway. ECO:0000269|PubMed:20114074, ECO:0000269|PubMed:20484055, ECO:0000269|PubMed:20639694, ECO:0000269|PubMed:21317285, ECO:0000269|PubMed:22829830, ECO:0000269|PubMed:23088497,; Belongs to the WD repeat SVP1 family.

Synonyms:  WIPI1,  WIPI1p,  hWIPI1,  G5EA37,  K7EK57 ...

Linkouts:  STRING  Pharos  UniProt  OMIM