EuRBPDB

Ensembl ID

ENSG00000151835 (Gene tree)

Gene ID

26278

Gene Symbol

SACS

Alias

ARSACS|KIAA0730|DKFZp686B15167|DNAJC29|SPAX6|PPP1R138

Full Name

sacsin molecular chaperone

Gene Type

protein_coding

Species

Homo_sapiens

Status

putative

Strand

Minus strand

Length

104,918 bases

Position

chr13:23,328,823-23,433,740

Accession

10519

RBP type

non-canonical RBP

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]