SETX

For the region of the U.S. state, see Southeast Texas.

SETX
Identifiers
Aliases	SETX, ALS4, AOA2, SCAR1, bA479K20.2, senataxin, Sen1, SCAN2, STEX
External IDs	OMIM: 608465; MGI: 2443480; HomoloGene: 41003; GeneCards: SETX; OMA:SETX - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q34.13 Start 132,261,356 bp End 132,354,986 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 A3- B Start 29,014,193 bp End 29,072,483 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis Achilles tendon left testis white blood cell monocyte granulocyte right lobe of thyroid gland testicle spleen left lobe of thyroid gland Top expressed in spermatocyte spermatid seminiferous tubule hand superior cervical ganglion mesenteric lymph nodes Gonadal ridge substantia nigra condyle foot More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription termination site sequence-specific DNA binding nucleotide binding protein binding ATP binding helicase activity DNA helicase activity identical protein binding hydrolase activity DNA binding RNA binding Cellular component nucleolus telomere nuclear chromosome chromosome cell projection cytoplasm growth cone nucleoplasm axon 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 by RNA polymerase II 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 NM_177365 RefSeq (protein) NP_055861 NP_001338456 NP_001338457 NP_932150 Location (UCSC) Chr 9: 132.26 – 132.35 Mb Chr 2: 29.01 – 29.07 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Probable helicase senataxin is an enzyme that in humans is encoded by the SETX gene.

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).

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.