sacsin; DnaJ homolog subfamily C member 29; DNAJC29 (SACS, KIAA0730)

Function

• co-chaperone
• acts as a regulator of the Hsp70 chaperone machinery
• may be involved in the processing of other ataxia-linked proteins

Structure

• the ubiquitin-like domain mediates interaction with the proteasome
• the J domain is functional & is shown to stimulate E coli DNAK ATPase activity
• contains 1 HEPN domain
• contains 1 J domain
• contains 1 ubiquitin-like domain

Compartment

• cytoplasm
• predominantly cytoplasmic
• a small portion is present in the nucleus
• shows a partial mitochondrial overlap with the mitochondrial marker Hsp60

Alternative splicing

named isoforms=2

Expression

• highly expressed in the central nervous system
• also expressed in skeletal muscle
• expressed at low levels in pancreas

Pathology

• defects in SACS are the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Laboratory

• SACS gene mutation

More general terms

• DNAJ homolog subfamily C
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=26278
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:26278
• OMIM: https://mirror.omim.org/entry/270550
• OMIM: https://mirror.omim.org/entry/604490
• UniProt: http://www.uniprot.org/uniprot/Q9NZJ4.html