Aliases &
Descriptions
for SACS gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| spastic ataxia of Charlevoix-Saguenay (sacsin)1 2 | | DNAJC292 3 | | DKFZp686B151671 2 | | OTTHUMP000000181092 | | ARSACS1 2 | | sacsin2 | | KIAA07301 3 | | AR5 | | DnaJ homolog subfamily C member 292 3 | | |
Export aliases for SACS gene to outside databasesPrevious GC identifers: GC13M021882 GC13M017882 GC13M022832 GC13M021700 GC13M022800 GC13M023902 |
Summaries
for SACS gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SACS:
This gene consists of nine exons including a gigantic exon spanning more than 12.8k bp. It encodes the sacsin protein,which includes a UBQ region at the N-terminus, a HEPN domain at the C-terminus and a DnaJ region upstream of the HEPNdomain. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at lowlevels in the pancreas. 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 peripheralneuropathy. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-lengthnature of these variants has not been determined.(provided by RefSeq)
UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4Function: Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processingof other ataxia-linked proteins
Gene Wiki entry for SACS |
Genomic Views
for SACS gene
(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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SACS gene promoter:
FOXD1 PPAR-gamma1 PPAR-gamma2 STAT5A POU3F2 (N-Oct-5b) POU3F2 POU3F2 (N-Oct-5a) MEF-2A Egr-3 Egr-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for SACS
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 13q12 Ensembl cytogenetic band: 13q12.12 HGNC cytogenetic band: 13q11SACS Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 13 GeneLoc Exon Structure GeneLoc location for GC13M004715: view genomic region
(about GC identifiers)
Start:
|
4,715,594 bp from pter |
End:
|
4,820,279 bp from pter |
Size:
|
104,686 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr13- 23,902,965-24,007,841 |
RefSeq DNA sequence:- NC_000013.10 NT_024524.14
|
Proteins
for SACS gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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 alsoshows 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;
PDB structures from  and Proteopedia  :1IUR (3D)
Secondary accessions: O94835 Q5T9J5 Q5T9J7 Q5T9J8 Q68DF5 Q6MZR4 Q8NBF9Alternative splicing: 2 isoforms: Q9NZJ4-1 Q9NZJ4-2 Explore the universe of human proteins at neXtProt for SACS: NX_Q9NZJ4
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_055178.3
ENSEMBL proteins: ENSP00000390925 ENSP00000385844 ENSP00000371729 ENSP00000281578 ENSP00000382868 ENSP00000393446 ENSP00000406565 ENSP00000371735
Human Recombinant Proteins
5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6): About this table
SACS for ontologies About GeneDecksing
Antibodies for SACS:
Assays for SACS: |
Protein
Domains/
Families
for SACS gene(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:Graphical View of Domain Structure for InterPro Entry Q9NZJ4ProtoNet protein and cluster: Q9NZJ4 UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4Domain: The ubiquitin-like domain mediates interaction with the proteasomeDomain: The J domain is functional and is shown to stimulate E.coli dnaK ATPase activitySimilarity: Contains 1 HEPN domainSimilarity: Contains 1 J domainSimilarity: Contains 1 ubiquitin-like domain |
Gene Function
for SACS gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4Function: Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processingof other ataxia-linked proteins
5 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
SACS for ontologies About GeneDecksing
|
Pathways & Interactions
for SACS gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for SACS
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SACS
4 Interacting proteins for SACS (Q9NZJ42) via UniProtKB, MINT, and/or STRINGAbout this table
2 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
SACS for ontologies About GeneDecksing
|
Drugs & Compounds
for SACS gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
SACS for compounds About GeneDecksing
 Browse Tocris compounds for SACS
2 PharmGKB drug compound relationships for SACS geneAbout this table
|
Transcripts
for SACS gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for SACS gene: NM_014363.4 Additional cDNA sequence: AB018273.1 AK024708.1 AK090599.1 AK125458.1 BC039418.1 BX640926.1 CR606941.1 CR749427.1 9 DOTS entries: DT.320807 DT.40127679 DT.120777010 DT.92474423 DT.86846633 DT.97794482 DT.75180492 DT.97784809 DT.121064636 24/123 AceView cDNA sequences (see all 123): BF002151 BM455925 BX640926 CR749427 BU742125 AK090599 BM461688 AA683013 AX746526 BQ575064 AA354920 AA809783 AA904650 AA007449 AI079961 AL119716 AA897178 BG941802 NM_014363 BM543193 AA987300 AI277501 CR606941 BX096955
 highest scoring ESTs for SACS:AB018273 AI685137 AK125458 AW295072 AW470182 BX640926 AA007449 AA007493 AA036633 AA195619 Unigene Cluster for SACS: Spastic ataxia of Charlevoix-Saguenay (sacsin) Hs.159492 [show with all ESTs]Unigene Representative Sequence: NM_014363
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for SACS
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | - | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | - | | - | | | |
About this scheme
ECgene alternative splicing isoforms for SACS
9 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000476776 ENST00000423156 ENST00000402364(uc001uoo.2) ENST00000382292
ENST00000281578(uc001uon.2 uc001uop.1 uc001uoq.1) ENST00000399986
ENST00000445163 ENST00000455470 ENST00000382298
|
Expression
for SACS gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| SACS expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching SACS gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 32102_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
1.00 |
1.00 |
AB018273 |
0.80 |
1.00 |
0.91 |
1 |
| 213262_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
AI932370 |
0.60 |
1.00 |
0.82 |
1 |
| 213262_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
SACS for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.159492
Expression variation in blood from EXPOLDB for SACS UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4Tissue specificity: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels inpancreas
SABiosciences Custom PCR Arrays for SACS
|
Orthologs
for SACS gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SACS gene from 5/7 species (see all 7)
About this table Species with no ortholog for SACS
ENSEMBL Gene Tree for SACS (if available) |
Paralogs
for SACS gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| -- |
Genomic Variants
for SACS gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 13 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for SACS (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for SACS
3 CNVs: 5314 5317 9216 | | QIAGEN SeqTarget long-range PCR primers for resequencing SACS |
|
Disorders & Mutations
for SACS gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SACS for disorders About GeneDecksing
OMIM: 604490 disorders: 270550 UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4
Defects in SACS are the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)[MIM:270550]. ARSACS is an early onset neurodegenerative disease with high prevalence in theCharlevoix-Saguenay-Lac-Saint-Jean region of Quebec. It is characterized by absent sensory-nerve conduction, reducedmotor-nerve velocity and hypermyelination of retinal-nerve fibers
3  Novoseek disease relationships for SACS gene
About this table
1 PharmGKB disease relationship for SACS geneAbout this table
GeneTests: SACS
ARSACS
Locus Specific Mutation Databases (LSDB): SACS
Human Gene Mutation Database (HGMD): SACS
Export disorders and mutations for SACS gene to outside databases
|
Medical News
for SACS gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications
for SACS gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/50 PubMed articles for SACS gene, integrated from 7 sources (see all 50):
(articles sorted by number of sources associating them with SACS)- The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. (PubMed id 19208651)1, 2, 7 Parfitt D.A....Chapple J.P. (2009)
- 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, 7 Engert J.C.... Richter A. (2000)
- The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. (PubMed id 10610707)1, 3 Engert J.C....Richter A. (1999)
- Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (1998)
- A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. (PubMed id 18398442)1, 7 Breckpot J....Devriendt K. (2008)
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. (PubMed id 18484239)1, 7 Kamada S....Toyoshima I. (2008)
- Novel SACS mutation in a Belgian family with sacsin-related ataxia. (PubMed id 17716690)1, 7 Ouyang Y....Takiyama Y. (2008)
- Novel compound heterozygous mutations in sacsin-related ataxia. (PubMed id 16198375)1, 7 Yamamoto Y....Sakoda S. (2005)
|
External Searches for SACS gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SACS gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SACS gene
(According to HUGE)
About This Section
| |
Specialized Databases showing SACS gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SACS |
|
| | |
About This Section
| Patent Information for SACS gene:
Search GeneIP for patents involving SACS
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SACS gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for SACS |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for SACS |
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