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SACS Gene

protein-coding   GIFtS: 58

GC13M004715
spastic ataxia of Charlevoix-Saguenay (sacsin)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(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     

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

Export aliases for SACS gene to outside databases

Previous GC identifers: GC13M021882 GC13M017882 GC13M022832 GC13M021700 GC13M022800 GC13M023902


(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 HEPN
domain. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low
levels 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 peripheral
neuropathy. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length
nature of these variants has not been determined.(provided by RefSeq)

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

Gene Wiki entry for SACS

(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: 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 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  

(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 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;
PDB structures from and Proteopedia :
1IUR (3D)    
Secondary accessions: O94835 Q5T9J5 Q5T9J7 Q5T9J8 Q68DF5 Q6MZR4 Q8NBF9
Alternative 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 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for SACS 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA19208651
    GO:0005737 cytoplasm IDA19208651
    GO:0005739 mitochondrion IDA19208651
    GO:0030424 axon TAS19208651
    GO:0030425 dendrite TAS19208651
    About this table

    SACS for ontologies           About GeneDecksing



    Antibodies for SACS: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for SACS 
    Novus Biologicals Antibody for SACS
    Browse antibodies at Epitomics

    Assays for SACS: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SACS 
    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:
     IPR000626 Ubiquitin
     IPR019955 Ubiquitin_supergroup
     IPR007842 HEPN
     IPR001623 DnaJ_N
     IPR003594 ATPase-like_ATP-bd

    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 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, 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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for SACS
    Sigma-Aldrich shRNA for SACS
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): SACS
    OriGene shRNA RFP (see all 2): SACS
    OriGene basic RS shRNA (see all 2): SACS
    OriGene siRNA: SACS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SACS 
    miRNA:Sigma-Aldrich microRNA Mimics for SACS
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SACS 
    8/24 SABiosciences Assays for microRNAs that regulate SACS (see all 24):
    hsa-miR-30c hsa-miR-142-5p hsa-miR-106a hsa-miR-938 hsa-miR-30d hsa-miR-340 hsa-miR-519a hsa-miR-223

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: SACS
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: SACS
    OriGene untagged cDNA clones in CMV expression vector: SACS
    OriGene 3'-UTR clone: SACS 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for SACS 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for SACS 

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524 ATP binding IEA--
    GO:0030544 Hsp70 protein binding IPI19208651
    GO:0031072 heat shock protein binding ----
    GO:0051087 chaperone binding IDA19208651
    GO:0070628 proteasome binding IPI19208651
    About this table

    SACS for ontologies           About GeneDecksing


    (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 STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN4O437072MINT-2856495
    PICK1Q9NRD52MINT-2866788
    --Q8IV542MINT-2876882
    --Q5SRJ42MINT-2872865
    About this table

    2 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457 protein folding NAS10655055
    GO:0090084 negative regulation of inclusion body assembly IMP19208651
    About this table

    SACS for ontologies           About GeneDecksing



    (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 Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SACS
    2 PharmGKB drug compound relationships for SACS gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    mercaptopurinePD  FA  GN  12704389
    methotrexatePD  FA  GN  12704389
    About this table



    (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

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for SACS
    Sigma-Aldrich shRNA for SACS
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): SACS
    OriGene shRNA RFP (see all 2): SACS
    OriGene basic RS shRNA (see all 2): SACS
    OriGene siRNA: SACS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SACS 
    miRNA: Sigma-Aldrich microRNA Mimics for SACS
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SACS 
    8/24 SABiosciences Assays for microRNAs that regulate SACS (see all 24):
    hsa-miR-30c hsa-miR-142-5p hsa-miR-106a hsa-miR-938 hsa-miR-30d hsa-miR-340 hsa-miR-519a hsa-miR-223
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: SACS
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: SACS
    OriGene untagged cDNA clones in CMV expression vector: SACS
    OriGene 3'-UTR Clone: SACS 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for SACS 
    Primers: OriGene genome-wide validated SYBR primer pairs: SACS
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SACS: PPH13171A

    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

    (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
    SACS gene expression
    SACS gene electronic northern expression
    SACS gene sage expression
    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, Q9NZJ4
    Tissue specificity: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in
    pancreas

    Primers: OriGene genome-wide validated SYBR primer pairs: SACS
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SACS: PPH13171A
        SABiosciences Custom PCR Arrays for SACS 


    (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)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SACS1   -- spastic ataxia of Charlevoix-Saguenay (sacsin) 91.31(n)
    95.73(a)
    477339  XM_534533.2  XP_534533.2 
    chimpanzee
    (Pan troglodytes)
    SACS1   -- spastic ataxia of Charlevoix-Saguenay (sacsin) 99.72(n)
    99.8(a)
    452479  XM_001174272.1  XP_001174272.1 
    cow
    (Bos taurus)
    SACS1   -- spastic ataxia of Charlevoix-Saguenay (sacsin) 81.1(n)
    90.74(a)
    539378  XM_586753.3  XP_586753.2 
    rat
    (Rattus norvegicus)
    Sacs1   -- spastic ataxia of Charlevoix-Saguenay (sacsin) 87.81(n)
    93.7(a)
    305940  XM_224256.4  XP_224256.4 
    mouse
    (Mus musculus)
    Sacs1 , 5 14 (32.13 cM)5
    sacsin1, 5 86.4(n)1
    88.98(a)1
    507201  NM_172809.31  NP_766397.21 
     AF1935575  AK0386555  (see all 15)
    About this table        Species with no ortholog for SACS

    ENSEMBL Gene Tree for SACS (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (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

    10/1059 NCBI SNPs in SACS are shown (see all 1059)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 13 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7361751,2
    C,A,H,23916777(-) AAAATA/CTGAAA 1 -- int16Minor allele frequency- C:0.36NA EA WA 216
    rs8784801,2
    C,F,A,23946962(+) CATCCC/TCCACA 1 -- int16Minor allele frequency- T:0.31NS EA WA 506
    rs8817801,2
    C,F,A,H,23948035(-) AGGCTA/CCTGAT 1 -- int13Minor allele frequency- C:0.33NA 6
    rs9432421,2
    C,F,A,H,23916533(+) AAGAAT/CCTTTT 1 -- int15Minor allele frequency- C:0.20NA EA 166
    rs10088121,2
    C,F,O,A,H,23966145(+) GGCTCG/AGAATC 1 -- int118Minor allele frequency- A:0.44NA EA NS 1162
    rs10088131,2
    C,F,A,H,23966252(+) TTGACA/GAGGAC 1 -- int119Minor allele frequency- G:0.45NA EA NS WA 1263
    rs10088141,2
    C,F,O,A,H,23966395(+) TGGTAA/TGCCTC 1 -- int122Minor allele frequency- T:0.42NA EA MN NS WA 1630
    rs10797431,2
    H23928620(+) GAACCC/TTAAGA 1 -- int17Minor allele frequency- T:0.00NA PA NS EA 672
    rs11094371,2
    C,F,24007871(+) TCAGTC/TGCTCC 1 -- ng514Minor allele frequency- T:0.03NS EA 420
    rs13265051,2
    F,H23927168(+) GACAAA/CCCCAG 1 -- int14Minor allele frequency- C:0.03NS EA 414
    About this table

    HapMap 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 

    (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 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 fibers

    3 Novoseek disease relationships for SACS gene

    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)
    About this table

    1 PharmGKB disease relationship for SACS gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1PD  FA  GN  12704389
    About 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

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (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)
    1. 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)
    2. 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)
    3. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. Novel SACS mutation in a Belgian family with sacsin-related ataxia. (PubMed id 17716690)1, 7 Ouyang Y....Takiyama Y. (2008)
    10. Novel compound heterozygous mutations in sacsin-related ataxia. (PubMed id 16198375)1, 7 Yamamoto Y....Sakoda S. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SACS

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for SACS gene:
    Search GeneIP for patents involving SACS

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    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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    GeneCards Homepage - Last full update: 30 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

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