Sacs Gene Summary [Mouse]
Predicted to enable several functions, including Hsp70 protein binding activity; low-density lipoprotein particle receptor binding activity; and proteasome binding activity. Predicted to be involved in negative regulation of inclusion body assembly. Predicted to be located in mitochondrion and nucleus. Is expressed in dorsal root ganglion; facial ganglion; glossopharyngeal ganglion; trigeminal ganglion; and vagus ganglion. Used to study Charlevoix-Saguenay spastic ataxia. Human ortholog(s) of this gene implicated in Charlevoix-Saguenay spastic ataxia. Orthologous to human SACS (sacsin molecular chaperone). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Sacs |
| Official Name | sacsin [Source:MGI Symbol;Acc:MGI:1354724] |
| Ensembl ID | ENSMUSG00000048279 |
| Bio databases IDs | |
| Aliases | sacsin |
| Synonyms | A230052M14, ARSACS, DNAJC29, E130115J16RIK, PPP1R138, RGD1305416, Sacsin, sacsin molecular chaperone, SPAX6 |
| Species | Mouse, Mus musculus |
| 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 mouse Sacs often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SIRPT2 domain
- Ubiquitin family
- SIRPT3 domain
- Hsp70 protein binding
- SIRPT1 domain
- binding protein
- Ubl1_cv_Nsp3_N-like
- chaperone binding
- low-density lipoprotein receptor binding
- ubiquitin-like domain
- identical protein binding
- HEPN domain
Pathways
Biological processes and signaling networks where the Sacs gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- spastic paraplegia
- Charlevoix-Saguenay type spastic ataxia
- neurodegeneration
- hereditary disorder
- hereditary spastic paraplegia
- autosomal recessive spastic ataxia
- astrocytosis
- Charcot-Marie-Tooth disease X-linked type 1
- muscle weakness
role in cell
- quantity
- differentiation
- degeneration
- abnormal morphology
- accumulation
- function
- function in
- assembly
- accumulation in
- assembly 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.
- Plasma Membrane
- Cytoplasm
- Nucleus
- Mitochondria
- nuclear scaffolds
- neurites
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Sacs gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein folding
- negative regulation of inclusion body assembly
Cellular Component
Where in the cell the gene product is active
- dendrite
- nucleus
- cytoplasm
- mitochondrion
- cell body fiber
- axon
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- proteasome binding
- chaperone binding
- Hsp70 protein binding