ID:SACS_HUMAN DESCRIPTION: RecName: Full=Sacsin; AltName: Full=DnaJ homolog subfamily C member 29; Short=DNAJC29; FUNCTION: Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins. SUBCELLULAR LOCATION: Cytoplasm. Note=Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60. TISSUE SPECIFICITY: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas. DOMAIN: The ubiquitin-like domain mediates interaction with the proteasome. DOMAIN: The J domain is functional and is shown to stimulate E.coli dnaK ATPase activity. DISEASE: Defects in SACS are the cause of spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]. It is a neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse. SIMILARITY: Contains 1 HEPN domain. SIMILARITY: Contains 1 J domain. SIMILARITY: Contains 1 ubiquitin-like domain. SEQUENCE CAUTION: Sequence=BAC03486.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH18265.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SACS";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NZJ4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
