PACS1 : phosphofurin acidic cluster sorting protein 1
Description
The PACS1 (phosphofurin acidic cluster sorting protein 1) is a protein-coding gene located on chromosome 11.
The PACS1 gene provides instructions for making a protein called phosphofurin acidic cluster sorting protein 1 (PACS1). The PACS1 protein is found in a complex network of membranes known as the trans-Golgi network, which sorts proteins and other molecules and sends them to their intended destinations inside or outside the cell. Within the trans-Golgi network, this protein helps transport certain molecules and proteins. The PACS1 protein is most active during development before birth.
PACS1 is a coat protein involved in sorting proteins within the trans-Golgi network (TGN). It helps to transport furin and mannose-6-phosphate receptor between endosomes and Golgi by binding to their acidic cluster sorting motifs and connecting them to the AP-1 complex. PACS1 is also involved in the removal of MHC-I from the cell surface to the TGN, a process mediated by HIV-1 Nef. Furthermore, PACS1 plays a crucial role in regulating calcium handling in the endoplasmic reticulum (ER) of lymphocytes, contributing to lymphocyte development, quiescence, and survival. This protein interacts with AP-1, AP-3, FURIN, NPHP1, PKD2, SORL1, and WDR37, forming ternary complexes with FURIN and AP-1. PACS1 also interacts with HIV-1 Nef and Epstein-Barr virus protein BBLF1.
PACS1 is also known as MRD17, SHMS.
Associated Diseases
- Schuurs-Hoeijmakers syndrome
- Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- PACS1 syndrome
