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Aliases for SACS Gene

Aliases for SACS Gene

  • Sacsin Molecular Chaperone 2 3 5
  • Spastic Ataxia Of Charlevoix-Saguenay (Sacsin) 2 3
  • Protein Phosphatase 1, Regulatory Subunit 138 2 3
  • DnaJ Homolog Subfamily C Member 29 3 4
  • DNAJC29 3 4
  • PPP1R138 3
  • KIAA0730 4
  • ARSACS 3
  • Sacsin 3
  • SPAX6 3

External Ids for SACS Gene

Previous GeneCards Identifiers for SACS Gene

  • GC13M021882
  • GC13M017882
  • GC13M022832
  • GC13M021700
  • GC13M022800
  • GC13M023902
  • GC13M004715

Summaries for SACS Gene

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 Spastic Ataxia, Charlevoix-Saguenay Type and Arsacs. GO annotations related to this gene include chaperone binding and proteasome binding.

UniProtKB/Swiss-Prot for SACS Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SACS Gene

Genomics for SACS Gene

Regulatory Elements for SACS Gene

Enhancers for SACS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F023319 1 Ensembl ENCODE 17.8 +111.7 111719 6.0 CTCF PKNOX1 JUN SIN3A RAD21 ZBTB40 POLR2A SMC3 FOS CREM SACS RPLP1P13 SDAD1P4
GH13F023468 0.9 Ensembl ENCODE 11.2 -36.4 -36422 2.6 SOX13 RFX1 BHLHE40 TEAD4 REST FEZF1 ZIC2 JUND SMARCA4 SCRT2 C1QTNF9B C1QTNF9B-AS1 MIPEP SACS TNFRSF19 LINC00327 LINC00352
GH13F023372 1 ENCODE 8.6 +57.6 57559 8.3 PKNOX1 ATF1 CREB3L1 SIN3A ZNF48 ZNF2 GLIS2 CBX5 ZNF143 ZNF207 C1QTNF9B-AS1 MIPEP C1QTNF9B SACS RPLP1P13 SACS-AS1
GH13F023459 0.6 Ensembl 11.9 -26.8 -26773 1.8 USF1 BHLHE40 MAX JUNB NR2F2 CBX5 CREM NFE2L2 SPI1 SACS C1QTNF9B C1QTNF9B-AS1 MIPEP TNFRSF19 LINC00327
GH13F023461 0.4 Ensembl 11.9 -28.1 -28073 0.4 ZNF664 SACS C1QTNF9B C1QTNF9B-AS1 MIPEP TNFRSF19 LINC00327
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SACS on UCSC Golden Path with GeneCards custom track

Promoters for SACS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000512864 628 1800 SOX13 MAX ZNF384 FEZF1 ZNF644 GLIS2 ZBTB48 POLR2A PRDM10 ZBTB20

Genomic Location for SACS Gene

Chromosome:
13
Start:
23,328,823 bp from pter
End:
23,433,728 bp from pter
Size:
104,906 bases
Orientation:
Minus strand

Genomic View for SACS Gene

Genes around SACS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SACS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SACS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SACS Gene

Proteins for SACS Gene

  • Protein details for SACS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZJ4-SACS_HUMAN
    Recommended name:
    Sacsin
    Protein Accession:
    Q9NZJ4
    Secondary Accessions:
    • O94835
    • Q5T9J5
    • Q5T9J7
    • Q5T9J8
    • Q68DF5
    • Q6MZR4
    • Q8NBF9

    Protein attributes for SACS Gene

    Size:
    4579 amino acids
    Molecular mass:
    521126 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03486.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH18265.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SACS Gene

    Alternative splice isoforms for SACS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SACS Gene

Post-translational modifications for SACS Gene

  • Ubiquitination at Lys 406 and Lys 714
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SACS Gene

Domains & Families for SACS Gene

Protein Domains for SACS Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZJ4

UniProtKB/Swiss-Prot:

SACS_HUMAN :
  • The ubiquitin-like domain mediates interaction with the proteasome.
Domain:
  • The ubiquitin-like domain mediates interaction with the proteasome.
  • The J domain is functional and is shown to stimulate E.coli dnaK ATPase activity.
  • Contains 1 HEPN domain.
  • Contains 1 J domain.
  • Contains 1 ubiquitin-like domain.
genes like me logo Genes that share domains with SACS: view

Function for SACS Gene

Molecular function for SACS Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030544 Hsp70 protein binding IPI 19208651
GO:0051087 chaperone binding IDA 19208651
GO:0070628 proteasome binding IPI 19208651
genes like me logo Genes that share ontologies with SACS: view
genes like me logo Genes that share phenotypes with SACS: view

Human Phenotype Ontology for SACS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SACS Gene

Localization for SACS Gene

Subcellular locations from UniProtKB/Swiss-Prot for SACS Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SACS gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19208651
GO:0005737 cytoplasm IDA 19208651
GO:0005739 mitochondrion IDA 19208651
GO:0030424 axon TAS 19208651
GO:0030425 dendrite TAS 19208651
genes like me logo Genes that share ontologies with SACS: view

Pathways & Interactions for SACS Gene

No Data Available

Gene Ontology (GO) - Biological Process for SACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 10655055
GO:0090084 negative regulation of inclusion body assembly IMP 19208651
genes like me logo Genes that share ontologies with SACS: view

No data available for Pathways by source and SIGNOR curated interactions for SACS Gene

Transcripts for SACS Gene

Unigene Clusters for SACS Gene

Spastic ataxia of Charlevoix-Saguenay (sacsin):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SACS Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: -
SP2:
SP3:
SP4: - -

Relevant External Links for SACS Gene

GeneLoc Exon Structure for
SACS
ECgene alternative splicing isoforms for
SACS

Expression for SACS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SACS Gene

Protein differential expression in normal tissues from HIPED for SACS Gene

This gene is overexpressed in Esophagus (43.7) and Liver (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SACS Gene



NURSA nuclear receptor signaling pathways regulating expression of SACS Gene:

SACS

SOURCE GeneReport for Unigene cluster for SACS Gene:

Hs.159492

mRNA Expression by UniProt/SwissProt for SACS Gene:

Q9NZJ4-SACS_HUMAN
Tissue specificity: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.
genes like me logo Genes that share expression patterns with SACS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for SACS Gene

Orthologs for SACS Gene

This gene was present in the common ancestor of chordates.

Orthologs for SACS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SACS 34 35
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia SACS 34 35
  • 91.3 (n)
oppossum
(Monodelphis domestica)
Mammalia SACS 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sacs 34
  • 87.87 (n)
mouse
(Mus musculus)
Mammalia Sacs 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SACS 34 35
  • 81.29 (n)
chicken
(Gallus gallus)
Aves SACS 34 35
  • 79.01 (n)
lizard
(Anolis carolinensis)
Reptilia SACS 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sacs 34
  • 73.54 (n)
zebrafish
(Danio rerio)
Actinopterygii SACS (3 of 3) 35
  • 82 (a)
OneToMany
sacs 34 35
  • 67.75 (n)
SACS (2 of 3) 35
  • 41 (a)
OneToMany
Species where no ortholog for SACS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SACS Gene

ENSEMBL:
Gene Tree for SACS (if available)
TreeFam:
Gene Tree for SACS (if available)

Paralogs for SACS Gene

Pseudogenes.org Pseudogenes for SACS Gene

genes like me logo Genes that share paralogs with SACS: view

No data available for Paralogs for SACS Gene

Variants for SACS Gene

Sequence variations from dbSNP and Humsavar for SACS Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs137853016 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550], Pathogenic 23,331,656(-) CTTTT(C/G)CTTTT reference, missense
rs137853017 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550], Pathogenic 23,338,040(-) CAGTA(C/T)GGCCC reference, missense
rs137853018 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550], Pathogenic 23,334,134(-) ATGCA(C/T)GGCAT reference, missense
rs137853019 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550], Pathogenic 23,340,715(-) ACTCT(C/T)TGACC reference, missense
rs140551762 Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550], Likely pathogenic 23,335,483(+) GAACT(G/T)GTATG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SACS Gene

Variant ID Type Subtype PubMed ID
nsv561336 CNV loss 21841781
nsv561335 CNV loss 21841781
nsv561334 CNV gain 21841781
nsv561292 CNV loss 21841781
nsv525965 CNV gain 19592680
nsv521022 CNV loss 19592680
nsv521020 CNV gain 19592680
nsv520725 CNV loss 19592680
nsv455840 CNV loss 19166990
nsv455837 CNV gain 19166990
nsv1151909 OTHER inversion 26484159
nsv1149929 CNV deletion 26484159
nsv1140246 OTHER inversion 24896259
nsv1120010 CNV deletion 24896259
nsv1078303 OTHER inversion 25765185
nsv1046767 CNV gain 25217958
esv5325 OTHER complex 18987735
esv3892319 CNV gain 25118596
esv3892311 CNV gain 25118596
esv3631519 CNV gain 21293372
esv3631516 CNV gain 21293372
esv3580576 CNV loss 25503493
esv3170768 CNV deletion 24192839
esv2751136 CNV loss 17911159
esv2422502 CNV duplication 17116639
esv2422437 CNV duplication 17116639
dgv97e215 CNV deletion 23714750
dgv3084n54 CNV gain 21841781
dgv1615n100 CNV gain 25217958

Variation tolerance for SACS Gene

Residual Variation Intolerance Score: 0.367% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.20; 96.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SACS Gene

Human Gene Mutation Database (HGMD)
SACS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SACS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SACS Gene

Disorders for SACS Gene

MalaCards: The human disease database

(14) MalaCards diseases for SACS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic ataxia, charlevoix-saguenay type
  • charlevoix-saguenay spastic ataxia
arsacs
  • spastic ataxia, charlevoix-saguenay type
spastic ataxia
ataxia
spasticity
- elite association - COSMIC cancer census association via MalaCards
Search SACS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SACS_HUMAN
  • 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. {ECO:0000269 PubMed:10655055, ECO:0000269 PubMed:12873855, ECO:0000269 PubMed:14718708, ECO:0000269 PubMed:15156359, ECO:0000269 PubMed:15985586, ECO:0000269 PubMed:16007637, ECO:0000269 PubMed:17290461, ECO:0000269 PubMed:17716690, ECO:0000269 PubMed:18398442, ECO:0000269 PubMed:18465152, ECO:0000269 PubMed:18484239, ECO:0000269 PubMed:19529988, ECO:0000269 PubMed:20876471, ECO:0000269 PubMed:27133561}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SACS

Genetic Association Database (GAD)
SACS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SACS
genes like me logo Genes that share disorders with SACS: view

No data available for Genatlas for SACS Gene

Publications for SACS Gene

  1. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. (PMID: 19208651) Parfitt D.A. … Chapple J.P. (Hum. Mol. Genet. 2009) 3 4 22 64
  2. A novel SACS gene mutation in a Tunisian family. (PMID: 19529988) Bouhlal Y. … Amouri R. (J. Mol. Neurosci. 2009) 3 4 22 64
  3. Novel SACS mutation in a Belgian family with sacsin-related ataxia. (PMID: 17716690) Ouyang Y. … Takiyama Y. (J. Neurol. Sci. 2008) 3 4 22 64
  4. A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. (PMID: 18398442) Breckpot J. … Devriendt K. (Eur. J. Hum. Genet. 2008) 3 4 22 64
  5. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. (PMID: 18465152) Vermeer S. … Kremer B. (Neurogenetics 2008) 3 4 22 64

Products for SACS Gene

Sources for SACS Gene

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