PACS1
Function
Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN. Required for normal ER Ca2+ handling in lymphocytes. Together with WDR37, it plays an essential role in lymphocyte development, quiescence and survival. Required for stabilizing peripheral lymphocyte populations (By similarity).
Involvement in disease
Schuurs-Hoeijmakers syndrome
SHMS
An autosomal dominant intellectual developmental disorder characterized by intellectual disability in combination with distinct craniofacial features and genital abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PACS family.
Cellular localization
- Golgi apparatus
- trans-Golgi network
- Localizes in the perinuclear region, probably the TGN.
Alternative names
KIAA1175, PACS1, Phosphofurin acidic cluster sorting protein 1, PACS-1