InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SACS

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.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0030544	Hsp70 protein binding
GO:0051087	chaperone binding
GO:0070628	proteasome binding

Biological Process

GO:0006457	protein folding
GO:0008219	cell death
GO:0090084	negative regulation of inclusion body assembly

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0030424	axon
GO:0030425	dendrite
GO:0070852	cell body fiber

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

PFAM

PF00240
PF14560
PF00226
PF02518
PF13581
PF05168

PRINTS

PR00625

PIRSF

SMART

SM00213
SM00271
SM00387
SM00748

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt