Version 5.4
| Homo sapiens Gene: SACS | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-14970.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | SACS | ||||||||||||||||||
| Gene Name | spastic ataxia of Charlevoix-Saguenay (sacsin) | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000151835 | ||||||||||||||||||
| Encoded Proteins |
spastic ataxia of Charlevoix-Saguenay (sacsin)
spastic ataxia of Charlevoix-Saguenay (sacsin)
spastic ataxia of Charlevoix-Saguenay (sacsin)
spastic ataxia of Charlevoix-Saguenay (sacsin)
spastic ataxia of Charlevoix-Saguenay (sacsin)
|
||||||||||||||||||
| Protein Structure |
|
||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| 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). [provided by RefSeq, Apr 2012] |
||||||||||||||||||
| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 13:23328823-23433728 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q12.12 | ||||||||||||||||||
| Transcripts |
|
||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
| Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
| Biological Process |
|
||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||
| Orthologs | |||||||||||||||||||
|
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q9NZJ4 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 26278 | ||||||||||||||||||
| UniGene | Hs.159492 Hs.619032 Hs.694491 | ||||||||||||||||||
| RefSeq | NM_001278055 NM_014363 | ||||||||||||||||||
| HUGO | HGNC:10519 | ||||||||||||||||||
| OMIM | 604490 | ||||||||||||||||||
| CCDS | CCDS9300 | ||||||||||||||||||
| HPRD | 05135 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB018273 AF193556 AK090599 AL157766 BX640926 CR749427 | ||||||||||||||||||
| GenPept | AAF31262 BAA34450 BAC03486 CAE45964 CAH18265 CAI13922 CAI13923 | ||||||||||||||||||
| RNA Seq Atlas | 26278 | ||||||||||||||||||