SACS


Summary: 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' (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
sacsin molecular chaperoneMIM:604490Ensembl:ENSG00000151835HGNC:HGNC:10519PA3492713q12.12

Gene Categories:

DRUGGABLE GENOME

GO terms in SACS


Term TypeEvidence TypeGO Term IDGO Des.
BPNASGO:0006457protein folding
BPIMPGO:0090084negative regulation of inclusion body assembly
CCIDAGO:0005634nucleus
CCIDAGO:0005737cytoplasm
CCIDAGO:0005739mitochondrion
CCTASGO:0030424axon
CCTASGO:0030425dendrite
CCTASGO:0070852cell body fiber
MFIPIGO:0030544Hsp70 protein binding
MFIDAGO:0051087chaperone binding
MFIPIGO:0070628proteasome binding

Gene expression in normal tissue: SACS

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SACS


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD594AZD-80551
iGMDRD698Neratinib2
iGMDRD541SNX-2112 (PF-04928473)1
iGMDRD945ML2146
iGMDRD883CIL55A1
iGMDRD154NSC237663
iGMDRD123Isoevodiamine4
iGMDRD251ML1621
iGMDRD137Indisulam5
iGMDRD202Curcumin6
iGMDRD103SN-382
iGMDRD311Dacinostat1
iGMDRD655SCHEMBL6185941
iGMDRD705Nakiterpiosin1
iGMDRD289Parthenolide8
iGMDRD329Merck604
iGMDRD286Nsc 6328395
iGMDRD871BRD63685
iGMDRD322FK 8662
iGMDRD420Leucascandrolide A6
iGMDRD12Bicalutamide1
iGMDRD889Compound 7d-cis4
iGMDRD151CHM-14
iGMDRD433Lexibulin1
iGMDRD126Tipifarnib9
iGMDRD484Pluripotin3
iGMDRD781Sirolimus7
iGMDRD483SCH-5290742
iGMDRD546BMS-7548072
iGMDRD670ML 2102
iGMDRD152179324-69-74
iGMDRD61Kinetin riboside2
iGMDRD687I-BET1511
iGMDRD394BX-7952
iGMDRD260FQI-22
iGMDRD474Avrainvillamide4
iGMDRD513BML-2592
iGMDRD187BRD98763
iGMDRD171Pemetrexed4
iGMDRD391OSU-030121
iGMDRD506Fedratinib2
iGMDRD74Idarubicin2
iGMDRD188Piperlongumine4
iGMDRD356PNU-746545
iGMDRD64Parbendazole5
iGMDRD369TGX-1152
iGMDRD512nutlin 32
iGMDRD486Tosedostat3
iGMDRD307Manumycin A2
iGMDRD262KU-559331
iGMDRD84Lovastatin acid4
iGMDRD614Dabrafenib1
iGMDRD499PDMP1
iGMDRD351GW843682X2
iGMDRD435BI-25364
iGMDRD211(1S,3R)-RSL33
iGMDRD901ELCPK3
iGMDRD267Oligomycin A6
iGMDRD434BMS-5369241
iGMDRD872BRD71373
iGMDRD414MST-3127
iGMDRD42Vorinostat6
iGMDRD353PD03259011
iGMDRD246NPC262
iGMDRD886Compound 1541A2
iGMDRD300Tozasertib5
iGMDRD505Pevonedistat3
iGMDRD1008SR-II-138A2
iGMDRD599Salermide2
iGMDRD387CHIR-990211
iGMDRD144NSC953979
iGMDRD193Fqi12
iGMDRD446LY 21832403
iGMDRD608Refametinib1
iGMDRD130Enzastaurin1
iGMDRD218XAV 9391
iGMDRD634SCHEMBL26080415
iGMDRD8024-methylfasudil1
iGMDRD736UNC12151
iGMDRD138PX 123
iGMDRD574Ruxolitinib1
iGMDRD870BRD636101
iGMDRD885Compound 1106
iGMDRD562Navitoclax3
iGMDRD577BIX012944
iGMDRD100Zebularine5

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SACS

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