SACS Gene Summary [Human]
This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Details
| Type | Protein Coding |
| Official Symbol | SACS |
| Official Name | sacsin molecular chaperone [Source:HGNC Symbol;Acc:HGNC:10519] |
| Ensembl ID | ENSG00000151835 |
| Bio databases IDs | |
| Aliases | sacsin molecular chaperone, protein phosphatase 1, regulatory subunit 138 |
| Synonyms | A230052M14, ARSACS, DNAJC29, E130115J16RIK, PPP1R138, RGD1305416, Sacsin, sacsin molecular chaperone, SPAX6 |
| 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 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 human 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 human 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