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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SACS Gene

protein-coding GIFtS: 55
GCID: GC13M023902

spastic ataxia of Charlevoix-Saguenay (sacsin)

Explore 29 diseases affiliated with
SACS via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Spastic Ataxia Of Charlevoix-Saguenay (Sacsin)¹ ²		DnaJ Homolog Subfamily C Member 29² ³
DNAJC29¹ ² ³		DKFZp686B15167¹
ARSACS¹ ²		Sacsin¹
KIAA0730¹ ³		AR⁵

External Ids:	HGNC: 10519¹	Entrez Gene: 26278²	Ensembl: ENSG00000151835⁷	OMIM: 604490⁵	UniProtKB: Q9NZJ4³

Export aliases for SACS gene to outside databases

Previous GC identifers: GC13M021882 GC13M017882 GC13M022832 GC13M021700 GC13M022800 GC13M004715

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SACS:

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). (provided by RefSeq, Apr 2012)

UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4

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

summary for SACS:

Androgen receptors (ARs) (also known as dihydrotestosterone receptors) are nuclear hormone receptors of the

NR3C class, which also includes mineralocorticoid, progesterone and glucocorticoid receptors. They are

expressed in bone marrow, mammary gland, prostate, testicular and muscle tissues where they exist as dimers

coupled to Hsp90 and HMGB proteins, which are shed upon ligand binding. Activated androgen receptors bind to

nuclear response elements of the genome, with an inverted palindromic 15 nucleotide sequence, to regulate

gene transcription. Androgen receptors also effect gene expression through interaction with transcription

factors including AP-1, NF-kappaB and STAT. Target genes of androgen receptors include insulin-like growth

factor 1 (IGF-1) and genes involved in the development of primary and secondary male sexual characteristics,

maintenance of sexual function and possibly have a causative role in aggressive behavior. Furthermore,

androgen receptors have recently been shown to have actions that are independent of DNA interactions.

Congential mutations in androgen receptors are associated with androgen insensitivity syndromes, virility

and spinal and bulbar muscular atrophy. Perturbations in androgen receptor expression is also a common

feature of prostate cancer. The human gene encoding the androgen receptor has been localized to Xq11-12.

Gene Wiki entry for SACS (Sacsin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000013.10 NC_018924.1 NT_024524.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SACS gene promoter:
Bach1 p53 AML1a JunB Bach2 FosB Fra-1 GATA-1 JunD c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SACS promoter sequence

Search SABiosciences Chromatin IP Primers for SACS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SACS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12 Ensembl cytogenetic band: 13q12.12 HGNC cytogenetic band: 13q11

SACS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SACS gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M023902: view genomic region (about GC identifiers)

Start:	23,902,965 bp from pter	End:	24,007,841 bp from pter
Size:	104,877 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4 (See protein sequence)

Recommended Name: Sacsin

Size: 4579 amino acids; 521126 Da

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

Sequence caution: Sequence=BAC03486.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=CAH18265.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

2 PDB 3D structures from and Proteopedia for SACS:

1IUR (3D)

3O10 (3D)

Secondary accessions: O94835 Q5T9J5 Q5T9J7 Q5T9J8 Q68DF5 Q6MZR4 Q8NBF9

Alternative splicing: 2 isoforms: Q9NZJ4-1 Q9NZJ4-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SACS: NX_Q9NZJ4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NZJ4

SACS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055178.3

ENSEMBL proteins:

ENSP00000371729 ENSP00000385844 ENSP00000406565 ENSP00000390925 ENSP00000371735

Human Recombinant Protein Products for SACS:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SACS

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	19208651
GO:0005737	cytoplasm	IDA	19208651
GO:0005739	mitochondrion	IDA	19208651
GO:0030424	axon	TAS	19208651
GO:0030425	dendrite	TAS	19208651

SACS for ontologies About GeneDecksing

SACS Antibody Products:

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Assay Products for SACS:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SACS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SACS for domains About GeneDecksing

5 InterPro domains/families:

IPR001623 DnaJ_domain

IPR003594 ATPase-like_ATP-bd

IPR000626 Ubiquitin

IPR019955 Ubiquitin_supergroup

IPR007842 HEPN

Graphical View of Domain Structure for InterPro Entry Q9NZJ4

ProtoNet protein and cluster: Q9NZJ4

UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4

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

Similarity: Contains 1 HEPN domain

Similarity: Contains 1 J domain

Similarity: Contains 1 ubiquitin-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SACS_HUMAN, Q9NZJ4

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

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005524	ATP binding	IEA	--
GO:0030544	Hsp70 protein binding	IPI	19208651
GO:0051087	chaperone binding	IDA	19208651
GO:0070628	proteasome binding	IPI	19208651

SACS for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SACS:

Increased homologous recombina

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SACS

miRNA Products:		miRTarBase miRNAs that target SACS: hsa-mir-488 (MIRT003789)

		OriGene 3'-UTR Clone: SACS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SACS
		8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate SACS (see all 45):
		hsa-miR-142-5p hsa-miR-100* hsa-miR-106a hsa-miR-938 hsa-miR-30d hsa-miR-519a hsa-miR-223 hsa-miR-30a

		SwitchGear 3'UTR luciferase reporter plasmid: SACS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SACS
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SACS (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SACS (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SACS (NM_014363)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SACS

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SACS

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/14 Interacting proteins for SACS (Q9NZJ4^{2, 3} ENSP00000371729⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTN4	O43707²^,³, ENSP00000252699⁴	MINT-2856495 I2D: score=3 STRING: ENSP00000252699
PICK1	Q9NRD5²^,³, ENSP00000349465⁴	MINT-2866788 I2D: score=3 STRING: ENSP00000349465
ZNRD1	Q9P1U0³, ENSP00000331111⁴	I2D: score=2 STRING: ENSP00000331111
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
TSC22D4	Q9Y3Q8³, ENSP00000300181⁴	I2D: score=2 STRING: ENSP00000300181

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006457	protein folding	NAS	10655055
GO:0008219	cell death	IEA	--
GO:0090084	negative regulation of inclusion body assembly	IMP	19208651

SACS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SACS available from Tocris Bioscience About this table

Compound	Action	CAS #
Nilutamide	Androgen receptor antagonist. Orally active	[63612-50-0]
Bicalutamide	Non-steroidal androgen receptor antagonist	[90357-06-5]
Cl-4AS-1	Steroidal androgen receptor agonist	[188589-66-4]
Finasteride	Type II 5alpha-reductase inhibitor	[98319-26-7]
TFM-4AS-1	Selective androgen receptor modulator (SARM)	--

Search CenterWatch for drugs/clinical trials and news about SACS

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SACS gene:

NM_014363.4

Unigene Cluster for SACS:

Spastic ataxia of Charlevoix-Saguenay (sacsin)

Hs.159492 [show with all ESTs]

Unigene Representative Sequence: NM_014363

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000382292 ENST00000402364(uc001uoo.2 uc001uoq.1) ENST00000455470(uc001uop.1)

ENST00000423156 ENST00000476776 ENST00000382298(uc001uon.2)

miRNA Products:		OriGene 3'-UTR Clone: SACS Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SACS
		8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate SACS (see all 45):
		hsa-miR-142-5p hsa-miR-100* hsa-miR-106a hsa-miR-938 hsa-miR-30d hsa-miR-519a hsa-miR-223 hsa-miR-30a

		SwitchGear 3'UTR luciferase reporter plasmid: SACS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SACS (see all 3) OriGene siRNA: SACS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SACS
		Sirion Biotech Custom design and validation of potent shRNA sequences against SACS

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SACS (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SACS (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SACS (NM_014363)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SACS

Additional cDNA sequence:

AB018273.1 AK024708.1 AK090599.1 AK125458.1 BC039418.1 BX640926.1 CR749427.1

9 DOTS entries:

DT.320807 DT.40127679 DT.120777010 DT.92474423 DT.86846633 DT.75180492 DT.97784809 DT.97794482

DT.121064636

24/123 AceView cDNA sequences (see all 123):

BQ440535 AA354920 AA987300 AA904650 AI277501 AI803488 AA809783 AB018273

BQ575064 BG941802 AA007449 N66003 AA036633 AK090599 BU742125 N71832

BM543193 AK125458 AI079961 AL119716 N95115 BF002151 AA683013 BX096955

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for SACS About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9
SP1:																			-
SP2:
SP3:
SP4:																	-		-

ECgene alternative splicing isoforms for SACS

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SACS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SACS expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SACS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SACS

SOURCE GeneReport for Unigene cluster: Hs.159492

UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4

Tissue specificity: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in

pancreas

SABiosciences Custom PCR Arrays for SACS

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SACS

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SACS gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sacs⁵	sacsin	--		14 (32.13 cM) 61138457
chicken (Gallus gallus)	Aves	SACS¹	spastic ataxia of Charlevoix-Saguenay (sacsin)	79.01(n) 84.84(a)		418944 XM_417138.3 XP_417138.3
lizard (Anolis carolinensis)	Reptilia	SACS⁶	--	83(a)	1 ↔ 1	3(188598418-188626033)
zebrafish (Danio rerio)	Actinopterygii	LOC558150¹	sacsin-like	67.75(n) 70.4(a)		558150 XM_003200045.1 XP_003200093.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G23110⁶	C3HC4-type RING finger domain-containing protein	18(a)	1 ↔ 1	5(7758307-7775671)

ENSEMBL Gene Tree for SACS (if available)
TreeFam Gene Tree for SACS (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SACS gene

SACS for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for SACS
PGOHUM00000242441 PGOHUM00000258702 PGOHUM00000241758

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75424050^1,2	C,F	--	4715773(+)	`GTATAT/CTTAGC`	1	--	ut3¹		1		WA	118
rs75389729^1,2	F	--	4715988(+)	`AAAAAA/TCTCCA`	1	--	ut3¹		1		WA	118
rs77645021^1,2	F	--	4716127(+)	`CATAAA/GGCAAG`	1	--	ut3¹		1		WA	118
rs11843731^1,2	C,F,A,H	--	4716433(+)	`CTGATG/AAGAAA`	1	--	ut3¹		14		NS EA NA WA	1924
rs76919938^1,2	C	--	4717642(+)	`CATTTA/CAAATA`	2	L F	mis¹		0	--	--	--	--
rs9552930^1,2	C,F,H	--	4722162(+)	`CATACT/CTGAAA`	2	/S /G	mis¹ ese³		8		NS EA NA	5134
rs79291029^1,2	C	--	4723811(+)	`CTTTAA/CCAGCC`	2	G V	mis¹		0	--	--	--	--
rs76194641^1,2	C	--	4728066(+)	`ATGTTG/TTATAG`	2	K Q	mis¹		0	--	--	--	--
rs17078615^1,2	C,F	--	4730030(+)	`AGGAAC/AAAAAT`	1	--	int¹		3		NA	140
rs9578584^1,2	F,H	--	4730561(+)	`GCATAC/TCCTTT`	1	--	int¹		5		NS EA WA	536

HapMap Linkage Disequilibrium report for SACS (23902965 - 24007841 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for SACS
3 CNVs: 5314 5317 9216
Human Gene Mutation Database (HGMD): SACS

Locus Specific Mutation Databases (LSDB): SACS

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SACS

DNA2.0 Custom Variant and Variant Library Synthesis for SACS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SACS for disorders           About GeneDecksing

OMIM gene information: 604490
OMIM disorders: 270550
UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4

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

20/29 diseases for SACS (see all 29): About MalaCards

spastic ataxia arsacs spasticity ataxia

cerebellar ataxia spinal-bulbar muscular atrophy peripheral neuropathy neuropathy

infantile onset spinocerebellar ataxia mitral valve prolapse androgen insensitivity syndrome spastic paraplegia

hereditary spastic paraplegia arachnoid cysts muscular atrophy arachnoiditis

axonal neuropathy paraplegia friedreich ataxia spinocerebellar ataxia

7 diseases from the University of Copenhagen DISEASES database for SACS:

Cerebellar ataxia Friedreich ataxia Tactile agnosia Peripheral neuropathy

Infantile onset spinocerebellar ataxia Peripheral nervous system disease Refsum disease

3 Novoseek disease relationships for SACS gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
arsacs	99	17	18484239 (3), 18398442 (2), 14718708 (1), 12873855 (1) (see all 13)
spastic ataxia	99	12	18398442 (2), 11701644 (1), 11788093 (1), 17683082 (1) (see all 11)
neurodegenerative diseases	54.2	2	12765831 (1), 10655055 (1)

GeneTests: SACS

ARSACS

Export disorders for SACS gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SACS gene, integrated from 9 sources (see all 61):
(articles sorted by number of sources associating them with SACS)

Utopia: connect your pdf to the dynamic
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The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)^{1, 2, 3} Dunham A.... Ross M.T. (2004)
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. (PubMed id 19208651)^{1, 2, 9} Parfitt D.A....Chapple J.P. (2009)
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. (PubMed id 18398442)^{1, 2, 9} Breckpot J....Devriendt K. (2008)
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. (PubMed id 10655055)^{1, 2, 9} Engert J.C.... Richter A. (2000)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. (PubMed id 18484239)^{1, 2, 9} Kamada S....Toyoshima I. (2008)
Novel SACS mutation in a Belgian family with sacsin-related ataxia. (PubMed id 17716690)^{1, 2, 9} Ouyang Y....Takiyama Y. (2008)
Identification of a SACS gene missense mutation in ARSACS. (PubMed id 14718708)^{1, 2, 9} Ogawa T....Nishizawa M. (2004)
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. (PubMed id 18465152)^{1, 2, 9} Vermeer S....Kremer B. (2008)
A phenotype without spasticity in sacsin-related ataxia. (PubMed id 15985586)^{1, 2, 9} Shimazaki H....Nakano I. (2005)
Mutations in SACS cause atypical and late-onset forms of ARSACS. (PubMed id 20876471)^{1, 2} Baets J....De Jonghe P. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26278	HGNC: 10519	AceView: SACS	Ensembl:ENSG00000151835	euGenes: HUgn26278
ECgene: SACS	H-InvDB: SACS

(According to HUGE)
About This Section

HUGE: KIAA0730

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SACS	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SACS

Intellectual Property for SACS gene
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Patent Information for SACS gene:
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GeneCards and IP:
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