VPS35L
Function
Acts as a component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079). Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association with the CCC complex and cooperation with the WASH complex on early endosomes. Seems not to be required for CCC complex stability (PubMed:25355947).
(Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface.
Involvement in disease
Ritscher-Schinzel syndrome 3
RTSC3
A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC3 is an autosomal recessive form. Affected individuals show cranio-cerebello-cardiac anomalies, coloboma, microphthalmia, chondrodysplasia punctata, complicated skeletal malformations, periventricular nodular heterotopia and proteinuria.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the VPS35L family.
Cellular localization
- Membrane
- Single-pass membrane protein
- Endosome
- Endosome location is dependent of the association with the CCC and WASH complexes.
Alternative names
C16orf62, 101F10.2, VPS35L, VPS35 endosomal protein-sorting factor-like, Esophageal cancer-associated protein