Homo sapiens Protein: SACS | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-14976.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SACS | ||||||||||||||||||
Protein Name | spastic ataxia of Charlevoix-Saguenay (sacsin) | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000371729 | ||||||||||||||||||
InnateDB Gene | IDBG-14970 (SACS) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
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. {ECO:0000269PubMed:19208651}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000269PubMed:19208651}. Note=Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60. | ||||||||||||||||||
Disease Associations | Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]: 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. {ECO:0000269PubMed:10655055, ECO:0000269PubMed:12873855, ECO:0000269PubMed:14718708, ECO:0000269PubMed:15156359, ECO:0000269PubMed:15985586, ECO:0000269PubMed:16007637, ECO:0000269PubMed:17290461, ECO:0000269PubMed:17716690, ECO:0000269PubMed:18398442, ECO:0000269PubMed:18465152, ECO:0000269PubMed:18484239, ECO:0000269PubMed:19529988, ECO:0000269PubMed:20876471}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000626
Ubiquitin-like IPR001623 DnaJ domain IPR003594 Histidine kinase-like ATPase, C-terminal domain IPR007842 HEPN IPR029071 Ubiquitin-related domain |
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PFAM |
PF00240
PF14560 PF00226 PF02518 PF13581 PF05168 |
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PRINTS |
PR00625
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PIRSF | |||||||||||||||||||
SMART |
SM00213
SM00271 SM00387 SM00748 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9NZJ4 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9NZJ4 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 26278 | ||||||||||||||||||
UniGene | Hs.694491 | ||||||||||||||||||
RefSeq | XP_005266395 | ||||||||||||||||||
HUGO | HGNC:10519 | ||||||||||||||||||
OMIM | 604490 | ||||||||||||||||||
CCDS | CCDS9300 | ||||||||||||||||||
HPRD | 05135 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB018273 AF193556 AK090599 AL157766 BX640926 CR749427 | ||||||||||||||||||
GenPept | AAF31262 BAA34450 BAC03486 CAE45964 CAH18265 CAI13922 CAI13923 | ||||||||||||||||||