SACS - sacsin molecular chaperone Gene
Also Known as SPAX6; ARSACS; DNAJC29; PPP1R138
Species: Homo sapiens
About SACS
This gene has 23 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 7.1), appendix (RPKM 2.8) and 23 other tissues.
Summary
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]
SACS Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001278055.2 | NP_001264984.1 | sacsin isoform 2 |
| NM_014363.6 | NP_055178.3 | sacsin isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables Hsp70 protein binding |
IPI
IPI: Inferred from physical interaction
|
19208651 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
21507954 | GOA |
| enables low-density lipoprotein particle receptor binding |
IDA
IDA: Inferred from direct assay
|
15082773 | GOA |
| enables proteasome binding |
IPI
IPI: Inferred from physical interaction
|
19208651 | GOA |
| enables protein-folding chaperone binding |
IDA
IDA: Inferred from direct assay
|
19208651 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of inclusion body assembly |
IMP
IMP: Inferred from mutant phenotype
|
19208651 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
19208651 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
19208651 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
19208651 | GOA |
SACS Protein Structure
ubiquitin: Ubiquitin family (24 - 67)
HEPN: HEPN domain (4447 - 4568)
- 0
- 800
- 1600
- 2400
- 3200
- 4000
- 4579 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sacsin |
|
SACS Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SACS | Q9NZJ4 | ACTN4 | Homo sapiens | O43707 | 16713569 | |
|
Intra
|
SACS | Q9NZJ4 | PPP1CA | Homo sapiens | P62136 | 19389623 | |
|
Intra
|
SACS | Q9NZJ4 | SACS | Homo sapiens | Q9NZJ4 | 21507954 | |
|
Intra
|
SACS | Q9NZJ4 | P4HA2 | Homo sapiens | O15460-2 | 30021884 | |
|
Intra
|
SACS | Q9NZJ4 | SACS | Homo sapiens | Q9NZJ4 | 21507954 | |
|
Intra
|
SACS | Q9NZJ4 | ADRB2 | Homo sapiens | P07550 | 28298427 | |
|
Intra
|
SACS | Q9NZJ4 | HNRNPA0 | Homo sapiens | Q13151 | 30021884 | |
|
Intra
|
SACS | Q9NZJ4 | SACS | Homo sapiens | Q9NZJ4 | 21507954 | |
|
Intra
|
SACS | Q9NZJ4 | SACS | Homo sapiens | Q9NZJ4 | 21507954 | |
|
Intra
|
SACS | Q9NZJ4 | SOD1 | Homo sapiens | P00441 | 30021884 | |
|
Intra
|
SACS | Q9NZJ4 | PICK1 | Homo sapiens | Q9NRD5 | 16713569 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
|
| Autosomal Recessive Spastic Ataxia |
|
|
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Hereditary Ataxia |
|
|
| Spastic Ataxia |
|
|
| Spasticity |
|
|
| Neuropathy |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
|
| Ataxia With Vitamin E Deficiency |
|
|
| Lichtenstein-Knorr Syndrome |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
|
| Marinesco-Sjogren Syndrome |
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
|
| Hereditary Spastic Paraplegia 23 |
|
|
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
|
| Spinocerebellar Ataxia 38 |
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
|
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
|
| Spastic Paraplegia 7, Autosomal Recessive |
|
|
| Coenzyme Q10 Deficiency Disease |
|
|
| Kearns-Sayre Syndrome |
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Spinocerebellar Ataxia 15 |
|
|
| Cerebellar Disease |
|
|
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
|
| Refsum Disease, Classic |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Peripheral Nervous System Disease |
|
|
| Charcot-Marie-Tooth Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | SACS | VGNC | VGNC:64852 |
| Canis familiaris | SACS | VGNC | VGNC:45842 |
| Bos taurus | SACS | VGNC | VGNC:34260 |
| Mus musculus | SACS | MGD | MGI:1354724 |
| Rattus norvegicus | SACS | RGD | RGD:1307281 |
| Macaca mulatta | SACS | VGNC | VGNC:76963 |
| Others | SACS | NCBI |