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Sacsin (SACS)

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ARSACS; DNAJC29; Spastic Ataxia Of Charlevoix Saguenay; DnaJ homolog subfamily C member 29

Sacsin (SACS)
CCC M178
HGNC 10519
MGI 1354724
PubMed 21507954
RGD 1307281
UniProt Q9NZJ4
Wiki Sacsin
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 .

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sacsin (SACS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sacsin (SACS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sacsin (SACS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sacsin (SACS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sacsin (SACS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sacsin (SACS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sacsin (SACS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sacsin (SACS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sacsin (SACS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sacsin (SACS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sacsin (SACS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sacsin (SACS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sacsin (SACS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sacsin (SACS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sacsin (SACS) ELISA Kit Customized Service Offer
  1. "ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF."Nat. Genet. 24:120-125(2000) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and analysis of human chromosome 13." Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "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."DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
  6. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  7. "The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1."Hum. Mol. Genet. 18:1556-1565(2009) [PubMed] [Europe PMC] [Abstract]
  8. "A novel SACS gene mutation in a Tunisian family."J. Mol. Neurosci. 39:333-336(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  12. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  14. "Solution structure of DnaJ domain of human KIAA0730 protein."Submitted (OCT-2003) to the PDB data bank
  15. "Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia."Arch. Neurol. 60:982-988(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey."Neurogenetics 5:165-170(2004) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of a SACS gene missense mutation in ARSACS."Neurology 62:107-109(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia."Mov. Disord. 20:1358-1361(2005) [PubMed] [Europe PMC] [Abstract]
  19. "A phenotype without spasticity in sacsin-related ataxia."Neurology 64:2129-2131(2005) [PubMed] [Europe PMC] [Abstract]
  20. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  21. "New mutation in the non-gigantic exon of SACS in Japanese siblings."Mov. Disord. 22:748-749(2007) [PubMed] [Europe PMC] [Abstract]
  22. "A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay."Eur. J. Hum. Genet. 16:1050-1054(2008) [PubMed] [Europe PMC] [Abstract]
  23. "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene."J. Neurol. 255:803-806(2008) [PubMed] [Europe PMC] [Abstract]
  24. "Novel SACS mutation in a Belgian family with sacsin-related ataxia."J. Neurol. Sci. 264:73-76(2008) [PubMed] [Europe PMC] [Abstract]
  25. "ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia."Neurogenetics 9:207-214(2008) [PubMed] [Europe PMC] [Abstract]
  26. "Mutations in SACS cause atypical and late-onset forms of ARSACS."Neurology 75:1181-1188(2010) [PubMed] [Europe PMC] [Abstract]
  27. "A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy."Eur. J. Neurol. 20:1486-1491(2013) [PubMed] [Europe PMC] [Abstract]