 |
 | Services
| |
 |
Aliases & Descriptions for SACS
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| AR 5 | | ARSACS 1, 2 | | DKFZp686B15167 1, 2 | | KIAA0730 1, 3 | | OTTHUMP00000018111 2 | | sacsin 2 |
| | | Descriptions |
|---|
| spastic ataxia of Charlevoix-Saguenay (sacsin) 2 |
|
| | Search outside databases for aliases for SACS genePrevious GC identifers: GC13M021882 GC13M017882 GC13M022832 GC13M021700 |
Summaries for SACS(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4Function: May function in chaperone-mediated protein foldingGene Wiki entry for SACS |
Genomic Location for SACS
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the SACS gene 
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 GC13M022800:
(about GC identifiers)
Start:
|
22,800,965 bp from pter |
End:
|
22,883,652 bp from pter |
Size:
|
82,688 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000013.9 NT_024524.13
| Proteins for SACS
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4 (See
protein sequence)Recommended Name: Sacsin Size: 4579 amino acids; 521126 Da
PDB structures from and Proteopedia :1IUR (3D)
 
Secondary accessions: O94835 Q5T9J5 Q5T9J7 Q5T9J8 Q68DF5 Q6MZR4 Q8NBF9Alternative splicing: 2 isoforms: Q9NZJ4-1 Q9NZJ4-2 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_055178.3
ENSEMBL proteins: ENSP00000385844 ENSP00000281578 ENSP00000371735 ENSP00000371729 ENSP00000382868
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | About this table
Antibodies for SACS: Assays for SACS: | Protein
Domains/ Families for SACS(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9NZJ4
ProtoNet protein and cluster: Q9NZJ4 UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4Similarity: Contains 1 HEPN domainSimilarity: Contains 1 J domain | Gene Function for SACS
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014363
Applied Biosystems Silencer® siRNAs for SACS
Sigma-Aldrich siRNA and siRNA Panels for SACS  Sigma-Aldrich shRNA for SACS  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014363                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_014363                                  untagged cDNA clones in CMV expression vector (see all 2): NM_014363 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_014363
UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4Function: May function in chaperone-mediated protein folding3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SACS
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5 Interacting proteins for SACS (ENSP000003717353 Q9NZJ42) via UniProtKB, MINT, and/or STRINGAbout this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for SACS(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
|
Browse Tocris compounds for SACS 2 PharmGKB drug compound relationships for SACS geneAbout this table
|
Transcripts for SACS(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
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 Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014363
Sigma-Aldrich siRNA and siRNA Panels for SACS  Sigma-Aldrich shRNA for SACS  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_014363 REFSEQ mRNAs for SACS gene: NM_014363.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_014363               OriGene GFP tagged cDNA clone in CMV expression vector: NM_014363                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_014363                                  untagged cDNA clones in CMV expression vector (see all 2): NM_014363  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.97784809 DT.121064636 DT.75180492 24/123 AceView cDNA sequences (see all 123
):BQ575064 BG941802 BF002151 AA683013 AI803488 AL119716 BX096955 N95115 AI079961 AK125458 BM543193 CR606941 BX119831 BI856422 AI377467 AB018273 N71832 AA007449 BM455925 BM553671 CR749427 AA460781 AA354920 AA809783
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
5 Ensembl transcripts including schematic representations: ENST00000402364
ENST00000281578
ENST00000382298
ENST00000382292
ENST00000399986
|
Expression for SACS
(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 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SACS expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SACS
1 / 2 / 3 3 probe-sets matching SACS gene Data from
(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 in pancreas |
Orthologs for SACS
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
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 | Paralogs for SACS(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for SACS(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SACS (up to first 250kb)
|
Disorders & Mutations for SACS
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
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 the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec. It is characterized by absent sensory-nerve conduction, reduced motor-nerve velocity and hypermyelination of retinal-nerve fibers3 Novoseek disease relationships for SACS gene
About this table
1 PharmGKB disease relationship for SACS geneAbout this table
GeneTests: SACS ARSACS Human Gene Mutation Database: SACS
|
Medical News for SACS(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for SACS (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/38 PubMed articles for SACS gene (see all 38
):- 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, 3, 4 Engert J.C.... Richter A. (2000)
- The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)3, 4 Dunham A.... Ross M.T. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 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)2, 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)3, 4 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, 3 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, 3 Kamada S....Toyoshima I. (2008)
- Novel SACS mutation in a Belgian family with sacsin-related ataxia. (PubMed id 17716690)1, 3 Ouyang Y....Takiyama Y. (2008)
- Novel compound heterozygous mutations in sacsin-related ataxia. (PubMed id 16198375)1, 3 Yamamoto Y....Sakoda S. (2005)
- A novel mutation in SACS gene in a family from southern Italy. (PubMed id 14718706)1, 3 Criscuolo C....Filla A. (2004)
|
Search for SACS
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SACS
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SACS
(According to HUGE)
About This Section
| |
Specialized Databases showing SACS(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.genetests.org/query?gene=SACS |
|
| | | About This Section
| --
| Services for SACS(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for SACS:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for SACS |
|
 |
 | | | |
GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
|