SACS

GENE INFORMATION

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Gene name

SACS (HGNC Symbol)

Synonyms

ARSACS, DKFZp686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6

Description

Sacsin molecular chaperone (HGNC Symbol)

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). 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]

Chromosome

13

Cytoband

q12.12

Chromosome location (bp)

23328823 - 23433728

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000151835 (version 78.38)

Entrez gene

26278

UniProt

Q9NZJ4 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NZJ4

Antibodypedia

SACS antibodies
 

PROTEIN VIEW

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SACS-001
 
SACS-003
 
SACS-004
 
SACS-005
 
SACS-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SACS-001 ENSP00000371729
ENST00000382292
Q9NZJ4
Show all »
Show » Show » 4579 521.1 No 0
SACS-003 ENSP00000385844
ENST00000402364
Q9NZJ4
Show all »
Show » Show » 3829 437 No 0
SACS-004 ENSP00000406565
ENST00000455470
Show » 732 82.7 No 0
SACS-005 ENSP00000390925
ENST00000423156
B2REB0
Show all »
Show » 374 41.6 No 0
SACS-201 ENSP00000371735
ENST00000382298
Q9NZJ4
Show all »
Show » Show » 4579 521.1 No 0