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 Mental Retardation, Autosomal Dominant 17 and Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome. 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. An important paralog of this gene is PACS2.
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.