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Senataxin (SETX)

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SCAR1; ALS4; AOA2; Amyotrophic Lateral Sclerosis 4; Spinocerebellar Ataxia,Recessive,Non-Friedreich Type 1; SEN1 homolog; Probable helicase senataxin

Senataxin (SETX)
CCC C841
HGNC 445
MGI 2443480
PubMed 19515850
RGD 1565575
UniProt Q7Z333
Wiki SETX
Probable helicase senataxin is a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).
Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus).

Organism species: Homo sapiens (Human)

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

Organism species: Mus musculus (Mouse)

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

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Senataxin (SETX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Senataxin (SETX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Senataxin (SETX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Senataxin (SETX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Senataxin (SETX) ELISA Kit Customized Service Offer
  1. "Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2." Nat. Genet. 36:225-227(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  3. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  8. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage."J. Cell Biol. 177:969-979(2007) [PubMed] [Europe PMC] [Abstract]
  10. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  11. "Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation."Hum. Mol. Genet. 18:3384-3396(2009) [PubMed] [Europe PMC] [Abstract]
  12. "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]
  13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  14. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  15. "Senataxin modulates neurite growth through fibroblast growth factor 8 signalling."Brain 134:1808-1828(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Role of senataxin in DNA damage and telomeric stability."DNA Repair 10:199-209(2011) [PubMed] [Europe PMC] [Abstract]
  17. "Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination."Mol. Cell 42:794-805(2011) [PubMed] [Europe PMC] [Abstract]
  18. "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]
  19. "A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage."Genes Dev. 27:2227-2232(2013) [PubMed] [Europe PMC] [Abstract]
  20. "Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response."Mol. Cell. Biol. 33:406-417(2013) [PubMed] [Europe PMC] [Abstract]
  21. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  22. "DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)."Am. J. Hum. Genet. 74:1128-1135(2004) [PubMed] [Europe PMC] [Abstract]
  23. "Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease."Neurobiol. Dis. 23:97-108(2006) [PubMed] [Europe PMC] [Abstract]
  24. "Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX."Neurology 66:1580-1581(2006) [PubMed] [Europe PMC] [Abstract]
  25. "In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome."Neurogenetics 8:45-49(2007) [PubMed] [Europe PMC] [Abstract]
  26. "Senataxin mutations and amyotrophic lateral sclerosis."Amyotroph. Lateral Scler. 12:223-227(2011) [PubMed] [Europe PMC] [Abstract]
  27. "A new SETX mutation producing AOA2 in two siblings."Int. J. Neurosci. 123:670-673(2013) [PubMed] [Europe PMC] [Abstract]
  28. "Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1."J. Neurol. Sci. 331:158-160(2013) [PubMed] [Europe PMC] [Abstract]
  29. "SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein."Orphanet J. Rare Dis. 8:123-123(2013) [PubMed] [Europe PMC] [Abstract]
  30. "Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide."PLoS ONE 8:E78837-E78837(2013) [PubMed] [Europe PMC] [Abstract]