PACS1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PACS1 |
| Official Name | phosphofurin acidic cluster sorting protein 1 [Source:HGNC Symbol;Acc:HGNC:30032] |
| Ensembl ID | ENSG00000175115 |
| Bio databases IDs | |
| Aliases | phosphofurin acidic cluster sorting protein 1 |
| Synonyms | MRD17, phosphofurin acidic cluster sorting protein 1, SHMS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PACS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- atropin-1-related region
- Atrophin-1 like domain
- ion channel binding
- central domain
- PACS-1 cytosolic sorting protein
- protein binding
- furin binding domain
- cargo binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- bipolar disorder
- bipolar I disorder
- hereditary disorder
- insomnia
- neurodevelopmental disorder
- mental retardation
- global developmental delay
- autosomal dominant mental retardation type 17
- primary cervical cancer
role in cell
- expression in
- growth
- quantity
- binding in
- S phase
- arborization
- accumulation in
- maturation
- growth in
- interaction in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- Nucleus
- Golgi Apparatus
- cytosol
- trans Golgi network
- growth cone
- dendritic knobs
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PACS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization in Golgi apparatus
- lymphocyte homeostasis
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- cytosol
- Golgi apparatus
- COPI-coated vesicle
Molecular Function
What the gene product does at the molecular level
- protein binding
- ion channel binding