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SACS Gene

protein-coding   GIFtS: 59

GC13M022800
spastic ataxia of Charlevoix-Saguenay (sacsin)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
AR 5
ARSACS 1, 2
DKFZp686B15167 1, 2
KIAA0730 1, 3
OTTHUMP00000018111 2
sacsin 2
Descriptions
spastic ataxia of Charlevoix-Saguenay (sacsin) 2
External Ids
HGNC: 105191
Entrez Gene: 262782
UniProtKB: Q9NZJ43
Ensembl: ENSG000001518357
Search outside databases for aliases for SACS gene

Previous GC identifers: GC13M021882 GC13M017882 GC13M022832 GC13M021700

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4
Function: May function in chaperone-mediated protein folding

Gene Wiki entry 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)
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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: 13q11

SACS 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  
(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)
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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 Q8NBF9
Alternative 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 Drug Discovery Central at Invitrogen for 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
    Recombinant Proteins from Abcam (Sacsin)
    Browse Abnova for 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 IDQualified GO termEvidencePubMed IDs
    GO:0005575 cellular_component ND--
    About this table

    Antibodies for SACS: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Sacsin), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for SACS

    Assays for SACS: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5 InterPro domains/families:
     IPR001623 DnaJ_N
     IPR018253 Heat_shock_DnaJ_CS
     IPR000626 Ubiquitin
     IPR019955 Ubiquitin_supergroup
     IPR007842 HEPN


       GeneDecks  SACS for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9NZJ4

    ProtoNet protein and cluster: Q9NZJ4

    UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4
    Similarity: Contains 1 HEPN domain
    Similarity: Contains 1 J domain

    (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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SACS)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  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  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  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, Q9NZJ4
    Function: May function in chaperone-mediated protein folding

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674 molecular_function ND--
    GO:0005524 ATP binding IEA--
    GO:0031072 heat shock protein binding IEA--
    About this table

    (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 STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN4O437072MINT-2856495
    PICK1Q9NRD52MINT-2866788
    --ENSP000003568233STRING (score=.75)
    --Q8IV542MINT-2876882
    --Q5SRJ42MINT-2872865
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457 protein folding NAS10655055
    GO:0006464 protein modification process IEA--
    About this table
    (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 drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    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 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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SACS)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  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  
    (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


    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 -- -- -- -- -- -- --
    GeneDecks  SACS for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    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, Q9NZJ4
    Tissue specificity: Highly expressed in the central nervous system. Also found in skeletal muscle
    and at low levels in pancreas

    (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 )
    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 (26.75 cM)5
    sacsin1, 5 86.4(n)1
    88.98(a)1
    507201  NM_172809.31  NP_766397.21 
     AC1245555  AF1935575  (see all 15)
    About this table        Species with no ortholog for SACS

    ENSEMBL Gene Tree for SACS
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/182 NCBI SNPs in SACS are shown (see all 182 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 127)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 13 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs27661131,2
    A,C,F,H,O22800581(+) AACTCA/CTATCT 1 -- ng5111Minor allele frequency- C:0.11NA EU EA WA 976
    rs47704331,2
    A,C,F,H22801791(+) TGATCA/GGAGCC 1 -- ut3111Minor allele frequency- G:0.37NA EU EA WA 980
    rs118437311,2
    A,C,F,H22801804(+) CTGATG/AAGAAA 1 -- ut314Minor allele frequency- A:0.02EU EA WA 420
    rs47704351,2
    A,C,F,H22841526(+) CCTCAG/AATACA 1 -- ng314Minor allele frequency- A:0.05EU EA WA 414
    rs20316401,2
    C,F,H,O22828055(+) TTGAGA/TTTCCA 1 N/K mis116Minor allele frequency- T:0.11EU EA WA NA 1470
    rs118393801,2
    C,F,H22807142(+) AAAACT/CTCTTT 1 R/K mis16Minor allele frequency- C:0.03EU EA WA NA 574
    --
    rs170787201,2
    C,F,H22883391(+) TCTCCC/TGGGAT 1 -- ut51 ese36Minor allele frequency- T:0.49NA EU EA 442
    rs170786051,2
    C,F,H22805909(+) TTTGGA/GCCATA 1 V/A mis1 ese313Minor allele frequency- G:0.23NA EA EU WA 1132
    rs170786011,2
    C,F,H22804983(+) AAGAGG/CAAGTG 1 A/P mis111Minor allele frequency- C:0.05NA EU EA WA 982
    rs173257131,2
    C,F,H22826671(+) TTCTGC/TTGAGG 1 A/T mis1 ese311Minor allele frequency- T:0.01NA EU EA WA 982
    About this table

    HapMap Linkage Disequilibrium images for SACS (up to first 250kb)

    (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
    fibers
  • 3 Novoseek disease relationships for SACS gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    arsacs 99.02 16 18484239 (3), 18398442 (2), 14718708 (1), 12873855 (1) (see all 12)
    spastic ataxia 98.81 12 18398442 (2), 11701644 (1), 11788093 (1), 17683082 (1) (see all 11)
    neurodegenerative diseases 57.12 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

    Human Gene Mutation Database: SACS

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

    (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 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    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, 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.genetests.org/query?gene=SACS
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for SACS-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for SACS Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for SACS Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search Novus for antibodies for SACS

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