SETX

From Wikipedia, the free encyclopedia

Senataxin

Identifiers

SETX; SCAR1; ALS4; AOA2; DKFZp781B151; FLJ12840; FLJ43459; KIAA0625; bA479K20.2

External IDs

OMIM: 608465 MGI: 2443480 HomoloGene: 41003

Gene ontology
Molecular Function:	• nucleotide binding • helicase activity • ATP binding • hydrolase activity
Cellular Component:	• nucleus
Biological Process:	• cell death

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_015046 (mRNA)
NP_055861 (protein)

NM_198033 (mRNA)
NP_932150 (protein)

Location

Chr 9: 134.13 - 134.22 Mb

Chr 2: 28.95 - 29 Mb

Pubmed search

[1]

[2]

Senataxin, also known as SETX, is a human gene.^[1]

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-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).^[1]

[edit] References

^ ^a ^b Entrez Gene: SETX senataxin.

[edit] 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. PMID 8125298.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. 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. PMID 9373149.
Chance PF, Rabin BA, Ryan SG, et al. (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. PMID 9497266.
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. PMID 9734811.
Németh AH, Bochukova E, Dunne E, et al. (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. PMID 11022012.
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. 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. 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. 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. 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. PMID 17562789.