Aliases for PACS1 Gene
External Ids for PACS1 Gene
Previous GeneCards Identifiers for PACS1 Gene
This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]
GeneCards Summary for PACS1 Gene
PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1) is a Protein Coding gene. Diseases associated with PACS1 include intellectual disability - craniofacial dysmorphism - cryptorchidism and mental retardation, autosomal dominant 17. Among its related pathways are Infectious disease and Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters. GO annotations related to this gene include ion channel binding.
UniProtKB/Swiss-Prot for PACS1 Gene
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.