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SACS Gene

protein-coding   GIFtS: 58
GCID: GC13M023902

Sacsin Molecular Chaperone

(Previous name: spastic ataxia of Charlevoix-Saguenay (sacsin))
  See SACS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sacsin Molecular Chaperone1 2     SPAX62
Spastic Ataxia Of Charlevoix-Saguenay (Sacsin)1 2     sacsin2
DnaJ Homolog Subfamily C Member 292 3     KIAA07303
DNAJC292 3     AR5
ARSACS2     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SACS Gene:
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). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene
results in multiple transcript variants. (provided by RefSeq, May 2013)

GeneCards Summary for SACS Gene:
SACS (sacsin molecular chaperone) is a protein-coding gene. Diseases associated with SACS include spasticity, and arsacs. GO annotations related to this gene include proteasome binding and chaperone binding.

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 Gene:
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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   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 plasmidSACS promoter sequence
   Search Chromatin IP Primers for SACS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4 (See protein sequence)
Recommended Name: Sacsin  
Size: 4579 amino acids; 521126 Da
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

Explore proteomics data for SACS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys406, Lys714
  • Modification sites at PhosphoSitePlus

  • See SACS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001264984.1  NP_055178.3  

    ENSEMBL proteins: 
     ENSP00000385844   ENSP00000371729   ENSP00000406565   ENSP00000390925   ENSP00000371735  

    SACS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SACS
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SACS

     
    Search eBioscience for Proteins for SACS 

    SACS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SACS
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    Novus Biologicals SACS Antibody
    Abcam antibodies for SACS
    Cloud-Clone Corp. Antibodies for SACS
    Search ThermoFisher Antibodies for SACS
    Search LSBio for Antibodies for SACS

    SACS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SACS
    Cloud-Clone Corp. CLIAs for SACS
    Search eBioscience for ELISAs for SACS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DNAJ: Heat shock proteins / DNAJ (HSP40)

    4 InterPro protein domains:
     IPR000626 Ubiquitin_dom
     IPR007842 HEPN
     IPR001623 DnaJ_domain
     IPR003594 HATPase_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


    Find genes that share domains with SACS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0030544Hsp70 protein binding IPI19208651
    GO:0051087chaperone binding IDA19208651
    GO:0070628proteasome binding IPI19208651
         
    Find genes that share ontologies with SACS           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SACS:
     Increased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SACS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SACS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SACS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SACS

    miRNA
    Products:
        
    miRTarBase miRNAs that target SACS:
    hsa-mir-1226-3p (MIRT036435), hsa-mir-424-5p (MIRT042454), hsa-mir-26b-5p (MIRT029563), hsa-mir-98-5p (MIRT027667)

    Block miRNA regulation of human, mouse, rat SACS using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSACS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SACS
    Predesigned siRNA for gene silencing in human, mouse, rat SACS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SACS

    Clone
    Products:
         
    OriGene clones in human, mouse for SACS (see all 6)
    OriGene ORF clones in mouse, rat for SACS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SACS (NM_014363)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SACS
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SACS

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SACS
    Browse ESI BIO Cell Lines and PureStem Progenitors for SACS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SACS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SACS_HUMAN, Q9NZJ4: Cytoplasm. Note=Predominantly cytoplasmic, a small portion is present in the nucleus and
    also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    nucleus4
    cytosol3
    plasma membrane3
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

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

    Find genes that share ontologies with SACS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SACS
        Androgen Signaling
    Akt Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SACS
    Interactions:

        Search GeneGlobe Interaction Network for SACS

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

    Selected Interacting proteins for SACS (Q9NZJ42, 3 ENSP000003717294) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN4O437072, 3, ENSP000002526994MINT-2856495 I2D: score=3 STRING: ENSP00000252699
    ENSG00000206502Q9P1U03, ENSP000003835034I2D: score=2 STRING: ENSP00000383503
    ENSG00000236949Q9P1U03, ENSP000004165994I2D: score=2 STRING: ENSP00000416599
    ZNRD1Q9P1U03, ENSP000003311114I2D: score=2 STRING: ENSP00000331111
    ENSG00000224859Q9P1U03I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding NAS10655055
    GO:0008219cell death IEA--
    GO:0090084negative regulation of inclusion body assembly IMP19208651

    Find genes that share ontologies with SACS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SACS available from Tocris Bioscience    About this table
    CompoundAction CAS #
    TestosteroneEndogenous androgen receptor agonist[58-22-0]
    FlutamideNon-steroidal androgen receptor antagonist[13311-84-7]
    NilutamideAndrogen receptor antagonist. Orally active[63612-50-0]
    BicalutamideNon-steroidal androgen receptor antagonist[90357-06-5]
    Cl-4AS-1Steroidal androgen receptor agonist[188589-66-4]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SACS gene (2 alternative transcripts): 
    NM_001278055.1  NM_014363.5  

    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:
    ENST00000402364(uc001uoo.2 uc001uoq.1) ENST00000382292 ENST00000455470(uc001uop.1)
    ENST00000423156 ENST00000476776 ENST00000382298(uc001uon.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SACS using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSACS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SACS
    Predesigned siRNA for gene silencing in human, mouse, rat SACS
    Clone
    Products:
         
    OriGene clones in human, mouse for SACS (see all 6)
    OriGene ORF clones in mouse, rat for SACS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SACS (NM_014363)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SACS
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SACS
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SACS
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SACS
      QuantiTect SYBR Green Assays in human, mouse, rat SACS
      QuantiFast Probe-based Assays in human, mouse, rat SACS

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 123):

    BX640926 NM_014363 BG941802 AK125458 N66003 BI856422 AA904650 N71832 
    BU742125 BM455925 AA897178 CR606941 BQ575064 CR749427 AB018273 AI803488 
    AA683013 BF002151 BQ440535 AA809783 AA354920 N95115 AL119716 BM543193 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SACS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SACS Expression
    About this image


    SACS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    SACS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SACS Protein Expression

    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

        Custom PCR Arrays for SACS
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    QuantiFast Probe-based Assays in human, mouse, rat SACS
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SACS gene from Selected species (see all 11)    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)
    84.77(a)
      418944  XM_004938796.1  XP_004938853.1 
    lizard
    (Anolis carolinensis)
    Reptilia SACS6
    spastic ataxia of Charlevoix-Saguenay (sacsin)
    83(a)
    1 ↔ 1
    3(188598418-188669993)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sacs1 spastic ataxia of Charlevoix-Saguenay (sacsin) 73.54(n)
    77.92(a)
      100498588  XM_004912064.1  XP_004912121.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sacs1 spastic ataxia of Charlevoix-Saguenay (sacsin) 67.75(n)
    70.42(a)
      558150  XM_005157480.1  XP_005157537.1 


    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)
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    Paralogs for SACS gene

    Find genes that share paralogs with SACS           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for SACS
    PGOHUM00000242441 PGOHUM00000258702 PGOHUM00000241758


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SACS (see all 2354)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2015050361,2,,4
    Spastic ataxia Charlevoix-Saguenay type (SACS)4 --4861668(+) GAATGG/TTATTA 4 T P mis10--------
    rs1405517621,2,,4
    C,FSpastic ataxia Charlevoix-Saguenay type (SACS)4 --4864229(+) GAACTG/TGTATG 4 Q P mis12Minor allele frequency- T:0.00NA EU 5839
    VAR_0648064
    Spastic ataxia Charlevoix-Saguenay type (SACS)4--see VAR_0648062 C R mis40--------
    VAR_0648224
    Spastic ataxia Charlevoix-Saguenay type (SACS)4--see VAR_0648222 A P mis40--------
    VAR_0648184
    Spastic ataxia Charlevoix-Saguenay type (SACS)4--see VAR_0648182 R Q mis40--------
    VAR_0648174
    Spastic ataxia Charlevoix-Saguenay type (SACS)4--see VAR_0648172 L P mis40--------
    VAR_0648194
    Spastic ataxia Charlevoix-Saguenay type (SACS)4--see VAR_0648192 L P mis40--------
    VAR_0648104
    Spastic ataxia Charlevoix-Saguenay type (SACS)4--see VAR_0648102 H R mis40--------
    VAR_0359864
    A colorectal cancer sample4--see VAR_0359862 M I mis40--------
    VAR_0648244
    Spastic ataxia Charlevoix-Saguenay type (SACS)4--see VAR_0648242 E K mis40--------

    HapMap Linkage Disequilibrium report for SACS (23902965 - 24007841 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SACS (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747131CNV Deletion23290073
    esv2747130CNV Deletion23290073
    esv2747122CNV Deletion23290073
    esv2422502CNV Duplication17116639
    esv2422437CNV Duplication17116639
    nsv455840CNV Loss19166990
    nsv520725CNV Loss19592680
    nsv899921CNV Loss21882294
    nsv899922CNV Loss21882294
    esv2751136CNV Loss17911159

    Human Gene Mutation Database (HGMD): SACS
    Locus Specific Mutation Databases (LSDB): SACS

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 604490   
    OMIM disorders: 270550  
    UniProtKB/Swiss-Prot: SACS_HUMAN, Q9NZJ4
  • Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]: 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 8 diseases for SACS:    
    About MalaCards
    spasticity    arsacs    tactile agnosia    cerebellar ataxia
    infantile onset spinocerebellar ataxia    muscular atrophy    ataxia    prostate cancer

    5 diseases from the University of Copenhagen DISEASES database for SACS:
    Cerebellar ataxia     Friedreich ataxia     Tactile agnosia     Neuropathy
    Infantile onset spinocerebellar ataxia

    Find genes that share disorders with SACS           About GenesLikeMe

    3 Novoseek inferred 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
    GeneReviews: SACS
    Genetic Association Database (GAD): SACS

    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

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    PubMed articles for SACS gene, integrated from 10 sources (see all 93):
    (articles sorted by number of sources associating them with SACS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2, 3 Dunham A.... Ross M.T. (Nature 2004)
    2. 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. (Hum. Mol. Genet. 2009)
    3. 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. (Eur. J. Hum. Genet. 2008)
    4. 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. (Nat. Genet. 2000)
    5. A novel SACS gene mutation in a Tunisian family. (PubMed id 19529988)1, 2, 9 Bouhlal Y.... Amouri R. (J. Mol. Neurosci. 2009)
    6. 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. (J. Neurol. 2008)
    7. Novel SACS mutation in a Belgian family with sacsin-related ataxia. (PubMed id 17716690)1, 2, 9 Ouyang Y.... Takiyama Y. (J. Neurol. Sci. 2008)
    8. Identification of a SACS gene missense mutation in ARSACS. (PubMed id 14718708)1, 2, 9 Ogawa T.... Nishizawa M. (Neurology 2004)
    9. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. (PubMed id 18465152)1, 2, 9 Vermeer S.... Kremer B. (Neurogenetics 2008)
    10. A phenotype without spasticity in sacsin-related ataxia. (PubMed id 15985586)1, 2, 9 Shimazaki H.... Nakano I. (Neurology 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
    About This Section

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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

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    HUGE: KIAA0730

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

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    NameDescription
    PharmGKB entry for SACS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SACS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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