Version 5.4
Bos taurus Gene: SACS
Summary
InnateDB Gene IDBG-631104.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SACS
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000001867
Encoded Proteins
IDBP-682606
spastic ataxia of Charlevoix-Saguenay (sacsin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000151835:
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 12:34876100-34917630
Strand Forward strand
Band
Transcripts
ENSBTAT00000002433 ENSBTAP00000002433
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0030544 Hsp70 protein binding
GO:0051087 chaperone binding
GO:0070628 proteasome binding
Biological Process
GO:0090084 negative regulation of inclusion body assembly
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000151835
View Gene Order
ENSMUSG00000048279
View Gene Order
Cross-References
SwissProt
TrEMBL F1N4J2
UniProt Splice Variant
Entrez Gene 539378
UniGene Bt.61903
RefSeq XM_005194149 XM_005213824
HUGO HGNC:10519
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02033208 DAAA02033209
GenPept
RNA Seq Atlas 539378

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca