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Tbio
SACS
Sacsin

Protein Summary
Description
Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins. 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" ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000382292
  • ENSP00000371729
  • ENSG00000151835
  • ENST00000402364
  • ENSP00000385844

Symbol
  • KIAA0730
  • SPAX6
  • ARSACS
  • DNAJC29
  • PPP1R138
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.84
interacting protein
0.79
protein domain
0.73
PubMedID
0.7
microRNA
0.69


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 236.05   (req: < 5)
Gene RIFs: 41   (req: <= 3)
Antibodies: 44   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 236.05   (req: >= 5)
Gene RIFs: 41   (req: > 3)
Antibodies: 44   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (67)
ENPP6
Tbio
Family:  Enzyme
Novelty:  0.06933544
p_int:  0.999996343
p_ni:  0.000003653
p_wrong:  4e-9
Score:  0.213
Data Source:  BioPlex,STRINGDB
MOCS3
Tbio
Family:  Enzyme
Novelty:  0.039209
p_int:  0.847753601
p_ni:  0.14552504
p_wrong:  0.006721359
Score:  0.312
Data Source:  BioPlex,STRINGDB
TTN
Tbio
Family:  Kinase
Novelty:  0.00040356
Score:  0.666
Data Source:  STRINGDB
NWD2
Tdark
Novelty:  0.09200545
Score:  0.645
Data Source:  STRINGDB
MUC5B
Tbio
Novelty:  0.000832
Score:  0.641
Data Source:  STRINGDB
SGCG
Tbio
Novelty:  0.0064966
Score:  0.64
Data Source:  STRINGDB
KCNK2
Tclin
Family:  IC
Novelty:  0.00315107
Score:  0.615
Data Source:  STRINGDB
UBR4
Tbio
Family:  Enzyme
Novelty:  0.03924839
Score:  0.613
Data Source:  STRINGDB
SLC18A3
Tchem
Family:  Transporter
Novelty:  0.00169007
Score:  0.612
Data Source:  STRINGDB
DNM1L
Tchem
Novelty:  0.00151314
Score:  0.611
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
1
0
1.5
21.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.5
21.5
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
sacsin molecular chaperone
VGNC:5105
452479
Macaque
sacsin molecular chaperone
706831
Mouse
MGI:1354724
50720
Rat
RGD:1307281
305940
Dog
sacsin molecular chaperone
VGNC:45842
477339
Species
Name
OMA
EggNOG
Inparanoid
Chimp
sacsin molecular chaperone
Macaque
sacsin molecular chaperone
Mouse
Rat
Dog
sacsin molecular chaperone
Publication Statistics
PubMed Score 236.05
PubMed score by year
PubTator Score 107.21
PubTator score by year
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Related Publications
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PMID
Year
Title