SETX

Probable helicase senataxin is an enzyme that in humans is encoded by the SETX gene.[5][6][7]

SETX
Identifiers
Aliases	SETX, ALS4, AOA2, SCAR1, bA479K20.2, senataxin, Sen1, SCAN2
External IDs	OMIM: 608465 MGI: 2443480 HomoloGene: 41003 GeneCards: SETX
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.13 Start 132,261,356 bp[1] End 132,354,986 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 B Start 29,124,181 bp[2] End 29,182,471 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transcription termination site sequence-specific DNA binding • nucleotide binding • GO:0001948 protein binding • ATP binding • GO:0008026 helicase activity • GO:0004003 DNA helicase activity • identical protein binding • hydrolase activity • DNA binding • RNA binding Cellular component • nucleolus • chromosome, telomeric region • nuclear chromosome • chromosome • cell projection • cytoplasm • growth cone • nucleoplasm • axon • cell nucleus • nuclear body • intercellular bridge Biological process • cellular response to fibroblast growth factor stimulus • positive regulation of DNA-templated transcription, termination • fibroblast growth factor receptor signaling pathway • positive regulation of RNA splicing • DNA recombination • cellular response to retinoic acid • nervous system development • positive regulation of neuron projection development • DNA repair • RNA processing • termination of RNA polymerase II transcription • cell differentiation • DNA-templated transcription, termination • mRNA splice site selection • cellular response to hydrogen peroxide • positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled • negative regulation of apoptotic process • positive regulation of DNA-templated transcription, initiation • circadian rhythm • cellular response to oxidative stress • spermatogenesis • protein kinase B signaling • rhythmic process • positive regulation of transcription from RNA polymerase II promoter • MAPK cascade • cellular response to DNA damage stimulus • DNA duplex unwinding • double-strand break repair Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23064	269254
Ensembl	ENSG00000107290	ENSMUSG00000043535
UniProt	Q7Z333	A2AKX3
RefSeq (mRNA)	NM_015046 NM_001351527 NM_001351528	NM_198033
RefSeq (protein)	NP_055861 NP_001338456 NP_001338457	NP_932150
Location (UCSC)	Chr 9: 132.26 – 132.35 Mb	Chr 2: 29.12 – 29.18 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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).[7]

References

1. GRCh38: Ensembl release 89: ENSG00000107290 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000043535 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2004Natur.429..369H. 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. S2CID 9501982.
• 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. S2CID 34988349.
• 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. S2CID 14294292.
• 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. S2CID 7827573.
• 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.