SETX

Senataxin
Identifiers
Symbols	SETX ; ALS4; AOA2; SCAR1; bA479K20.2
External IDs	OMIM: 608465 MGI: 2443480 HomoloGene: 41003 GeneCards: SETX Gene
EC number	3.6.1.-
Gene ontology Molecular function • transcription termination site sequence-specific DNA binding • DNA binding • DNA helicase activity • protein binding • ATP binding • identical protein binding Cellular component • nuclear chromosome • chromosome, telomeric region • nucleus • nucleoplasm • nucleolus • cytoplasm • axon • growth cone Biological process • MAPK cascade • double-strand break repair • DNA recombination • termination of RNA polymerase II transcription • mRNA splice site selection • RNA processing • cellular response to DNA damage stimulus • spermatogenesis • circadian rhythm • fibroblast growth factor receptor signaling pathway • positive regulation of neuron projection development • DNA duplex unwinding • positive regulation of RNA splicing • cellular response to oxidative stress • negative regulation of apoptotic process • protein kinase B signaling • cellular response to fibroblast growth factor stimulus • positive regulation of transcription from RNA polymerase II promoter • positive regulation of DNA-templated transcription, termination • cellular response to hydrogen peroxide • cellular response to retinoic acid • positive regulation of DNA-templated transcription, initiation • positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23064	269254
Ensembl	ENSG00000107290	ENSMUSG00000043535
UniProt	Q7Z333	A2AKX3
RefSeq (mRNA)	NM_015046	NM_198033
RefSeq (protein)	NP_055861	NP_932150
Location (UCSC)	Chr 9: 132.26 – 132.35 Mb	Chr 2: 29.12 – 29.18 Mb
PubMed search

Probable helicase senataxin is an enzyme that in humans is encoded by the SETX gene.^[1][2][3]

This gene encodes 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 oculomotor apraxia type 2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).^[3]

References

1. Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR (Apr 1998). "Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34". Am J Hum Genet 62 (3): 633–40. doi:10.1086/301769. PMC 1376963. PMID 9497266.
2. Nemeth AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ, Taylor AM (Nov 2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34". Am J Hum Genet 67 (5): 1320–6. doi:10.1016/S0002-9297(07)62962-0. PMC 1288574. PMID 11022012.
3. "Entrez Gene: SETX senataxin".

External links

• GeneReviews/NCBI/NIH/UW entry on Ataxia with Oculomotor Apraxia Type 2
• OMIM entries on Ataxia with Oculomotor Apraxia Type 2
• Genetics Home Reference

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Ishikawa K, Nagase T, Suyama M, et al. (1998). "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 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Moreira MC, Klur S, Watanabe M, et al. (2004). "Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.". Nat. Genet. 36 (3): 225–7. doi:10.1038/ng1303. PMID 14770181.
• Chen YZ, Bennett CL, Huynh HM, et al. (2004). "DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).". Am. J. Hum. Genet. 74 (6): 1128–35. doi:10.1086/421054. PMC 1182077. PMID 15106121.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9.". Nature 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Duquette A, Roddier K, McNabb-Baltar J, et al. (2005). "Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.". Ann. Neurol. 57 (3): 408–14. doi:10.1002/ana.20408. PMID 15732101.
• Asaka T, Yokoji H, Ito J, et al. (2006). "Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.". Neurology 66 (10): 1580–1. doi:10.1212/01.wnl.0000216135.59699.9b. PMID 16717225.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
• Suraweera A, Becherel OJ, Chen P, et al. (2007). "Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.". J. Cell Biol. 177 (6): 969–79. doi:10.1083/jcb.200701042. PMC 2064358. PMID 17562789.