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Aliases for SACS Gene

Aliases for SACS Gene

  • Sacsin Molecular Chaperone 2 3
  • Spastic Ataxia Of Charlevoix-Saguenay (Sacsin) 2 3
  • DnaJ Homolog Subfamily C Member 29 3 4
  • DNAJC29 3 4
  • Protein Phosphatase 1, Regulatory Subunit 138 3
  • Regulatory Subunit 138 2
  • Protein Phosphatase 1 2
  • PPP1R138 3
  • KIAA0730 4
  • ARSACS 3
  • Sacsin 3
  • SPAX6 3
  • AR 6

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. Among its related pathways are Pathways in cancer and Akt Signaling. 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

Genomic Location for SACS Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SACS Gene at MOPED

Post-translational modifications for SACS Gene

  • Ubiquitination at Lys406 and Lys714
  • Modification sites at PhosphoSitePlus

Other Protein References for SACS Gene

No data available for DME Specific Peptides for SACS Gene

Domains for SACS Gene

Gene Families for SACS Gene

HGNC:
  • DNAJ :Heat shock proteins / DNAJ (HSP40)

Protein Domains for SACS Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZJ4

UniProtKB/Swiss-Prot:

SACS_HUMAN :
  • Q9NZJ4
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:0005515 protein binding --
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

Phenotypes for SACS Gene

GenomeRNAi human phenotypes for SACS:
genes like me logo Genes that share phenotypes with SACS: view

miRNA for SACS Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SACS Gene COMPARTMENTS Subcellular localization image for SACS gene
Compartment Confidence
mitochondrion 4
nucleus 4
cytosol 3
plasma membrane 3
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
peroxisome 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 for SACS Gene

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

Gene Ontology (GO) - Biological Process for SACS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 10655055
GO:0008219 cell death --
GO:0090084 negative regulation of inclusion body assembly IMP 19208651
genes like me logo Genes that share ontologies with SACS: view

Transcripts for SACS Gene

Unigene Clusters for SACS Gene

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

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 for SACS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SACS Gene

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 expressions with SACS: view

No data available for mRNA differential expression in normal tissues 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 35
  • 99.16 (n)
  • 99.1 (a)
SACS 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SACS 35
  • 81.29 (n)
  • 90.69 (a)
SACS 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SACS 35
  • 91.3 (n)
  • 95.56 (a)
SACS 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sacs 16
Sacs 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SACS 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sacs 35
  • 87.87 (n)
  • 93.55 (a)
chicken
(Gallus gallus)
Aves SACS 35
  • 79.01 (n)
  • 84.77 (a)
SACS 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SACS 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sacs 35
  • 73.54 (n)
  • 77.92 (a)
zebrafish
(Danio rerio)
Actinopterygii sacs 35
  • 67.75 (n)
  • 70.42 (a)
sacs 36
  • 70 (a)
OneToMany
SACS (2 of 3) 36
  • 41 (a)
OneToMany
SACS (3 of 3) 36
  • 82 (a)
OneToMany
Species with no ortholog for SACS:
  • 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 MAF
rs736175 -- 23,342,638(-) AAAAT(A/C)TGAAA intron-variant
rs878480 -- 23,372,823(+) CATCC(C/T)CCACA intron-variant
rs881780 -- 23,373,896(-) AGGCT(A/C)CTGAT intron-variant
rs943242 -- 23,342,394(+) AAGAA(C/T)CTTTT intron-variant
rs1008812 -- 23,392,006(+) GGCTC(A/G)GAATC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422437 CNV Duplication 17116639
esv2422502 CNV Duplication 17116639
esv2747122 CNV Deletion 23290073
esv5325 CNV Complex 18987735
nsv455837 CNV Gain 19166990
nsv525965 CNV Gain 19592680
dgv1561n71 CNV Gain 21882294
nsv899911 CNV Gain 21882294
esv2751136 CNV Loss 17911159
nsv899918 CNV Gain 21882294
nsv899919 CNV Gain 21882294
nsv520725 CNV Loss 19592680
nsv899920 CNV Gain 21882294
nsv521020 CNV Gain 19592680
nsv899921 CNV Loss 21882294
nsv899922 CNV Loss 21882294
esv2747130 CNV Deletion 23290073
nsv521022 CNV Loss 19592680
esv2747131 CNV Deletion 23290073
nsv455840 CNV Loss 19166990

Relevant External Links for SACS Gene

HapMap Linkage Disequilibrium report
SACS
Human Gene Mutation Database (HGMD)
SACS
Locus Specific Mutation Databases (LSDB)
SACS

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

Disorders for SACS Gene

(1) OMIM Diseases for SACS Gene (604490)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for SACS Gene

Disease -log(P) Hits PubMed IDs
arsacs 99 16
spastic ataxia 99 12
neurodegenerative diseases 54.2 2

Relevant External Links for SACS

GeneTests
SACS
GeneReviews
SACS
Genetic Association Database (GAD)
SACS
genes like me logo Genes that share disorders with SACS: view

Publications for SACS Gene

  1. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. (PMID: 10655055) Engert J.C. … Richter A. (Nat. Genet. 2000) 3 4 23
  2. Identification of a SACS gene missense mutation in ARSACS. (PMID: 14718708) Ogawa T. … Nishizawa M. (Neurology 2004) 3 4 23
  3. A phenotype without spasticity in sacsin-related ataxia. (PMID: 15985586) Shimazaki H. … Nakano I. (Neurology 2005) 3 4 23
  4. Novel SACS mutation in a Belgian family with sacsin-related ataxia. (PMID: 17716690) Ouyang Y. … Takiyama Y. (J. Neurol. Sci. 2008) 3 4 23
  5. 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 23

Products for SACS Gene

Sources for SACS Gene

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