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{{for|the region of the U.S. state|Southeast Texas}}
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{{Infobox_gene}}
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'''Probable helicase senataxin''' is an [[enzyme]] that in humans is encoded by the ''SETX'' [[gene]].<ref name="pmid9497266">{{cite journal | vauthors = Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR | title = Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34 | journal = Am J Hum Genet | volume = 62 | issue = 3 | pages = 633–40 |date=Apr 1998 | pmid = 9497266 | pmc = 1376963 | doi = 10.1086/301769 }}</ref><ref name="pmid11022012">{{cite journal | vauthors = Nemeth AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ, Taylor AM | title = Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34 | journal = Am J Hum Genet | volume = 67 | issue = 5 | pages = 1320–6 |date=Nov 2000 | pmid = 11022012 | pmc = 1288574 | doi = 10.1016/S0002-9297(07)62962-0 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SETX senataxin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23064| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Senataxin
| HGNCid = 445
| Symbol = SETX
| AltSymbols =; SCAR1; ALS4; AOA2; DKFZp781B151; FLJ12840; FLJ43459; KIAA0625; bA479K20.2
| OMIM = 608465
| ECnumber =
| Homologene = 41003
| MGIid = 2443480
| GeneAtlas_image1 = PBB_GE_SETX_201964_at_tn.png
| GeneAtlas_image2 = PBB_GE_SETX_201965_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004386 |text = helicase activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0008219 |text = cell death}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 23064
    | Hs_Ensembl = ENSG00000107290
    | Hs_RefseqProtein = NP_055861
    | Hs_RefseqmRNA = NM_015046
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 134129104
    | Hs_GenLoc_end = 134220193
    | Hs_Uniprot = Q7Z333
    | Mm_EntrezGene = 269254
    | Mm_Ensembl = ENSMUSG00000043535
    | Mm_RefseqmRNA = NM_198033
    | Mm_RefseqProtein = NP_932150
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 28947001
    | Mm_GenLoc_end = 29004480
    | Mm_Uniprot = 
  }}
}}
'''Senataxin''', also known as '''SETX''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SETX senataxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23064| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =
| summary_text = 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).<ref name="entrez">{{cite web | title = Entrez Gene: SETX senataxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23064| accessdate = }}</ref>
| summary_text = 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 [[Amyotrophic lateral sclerosis|juvenile amyotrophic lateral sclerosis]] (ALS4).<ref name="entrez"/>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=aoa2  GeneReviews/NCBI/NIH/UW entry on Ataxia with Oculomotor Apraxia Type 2]
* [https://www.ncbi.nlm.nih.gov/omim/606002,608465  OMIM entries on Ataxia with Oculomotor Apraxia Type 2]
* [http://ghr.nlm.nih.gov/gene/SETX Genetics Home Reference]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
*{{cite journal   |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  }}
*{{cite journal  | author=Chance PF, Rabin BA, Ryan SG, ''et al.'' |title=Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 633-40 |year= 1998 |pmid= 9497266 |doi= }}
*{{cite journal   |vauthors=Ishikawa K, Nagase T, Suyama M, etal |title=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. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–76 |year= 1998 |pmid= 9734811 |doi=10.1093/dnares/5.3.169 }}
*{{cite journal | author=Ishikawa K, Nagase T, Suyama M, ''et al.'' |title=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. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169-76 |year= 1998 |pmid= 9734811 |doi= }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=Németh AH, Bochukova E, Dunne E, ''et al.'' |title=Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1320-6 |year= 2000 |pmid= 11022012 |doi= }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Moreira MC, Klur S, Watanabe M, etal |title=Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. |journal=Nat. Genet. |volume=36 |issue= 3 |pages= 225–7 |year= 2004 |pmid= 14770181 |doi= 10.1038/ng1303 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Chen YZ, Bennett CL, Huynh HM, etal |title=DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). |journal=Am. J. Hum. Genet. |volume=74 |issue= 6 |pages= 1128–35 |year= 2004 |pmid= 15106121 |doi= 10.1086/421054 | pmc=1182077 }}
*{{cite journal | author=Moreira MC, Klur S, Watanabe M, ''et al.'' |title=Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. |journal=Nat. Genet. |volume=36 |issue= 3 |pages= 225-7 |year= 2004 |pmid= 14770181 |doi= 10.1038/ng1303 }}
*{{cite journal   |vauthors=Humphray SJ, Oliver K, Hunt AR, etal |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369–74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 | pmc=2734081 }}
*{{cite journal | author=Chen YZ, Bennett CL, Huynh HM, ''et al.'' |title=DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). |journal=Am. J. Hum. Genet. |volume=74 |issue= 6 |pages= 1128-35 |year= 2004 |pmid= 15106121 |doi= 10.1086/421054 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Humphray SJ, Oliver K, Hunt AR, ''et al.'' |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369-74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 }}
*{{cite journal   |vauthors=Duquette A, Roddier K, McNabb-Baltar J, etal |title=Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. |journal=Ann. Neurol. |volume=57 |issue= 3 |pages= 408–14 |year= 2005 |pmid= 15732101 |doi= 10.1002/ana.20408 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Asaka T, Yokoji H, Ito J, etal |title=Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. |journal=Neurology |volume=66 |issue= 10 |pages= 1580–1 |year= 2006 |pmid= 16717225 |doi= 10.1212/01.wnl.0000216135.59699.9b }}
*{{cite journal | author=Duquette A, Roddier K, McNabb-Baltar J, ''et al.'' |title=Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. |journal=Ann. Neurol. |volume=57 |issue= 3 |pages= 408-14 |year= 2005 |pmid= 15732101 |doi= 10.1002/ana.20408 }}
*{{cite journal   |vauthors=Beausoleil SA, Villén J, Gerber SA, etal |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240 }}
*{{cite journal | author=Asaka T, Yokoji H, Ito J, ''et al.'' |title=Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. |journal=Neurology |volume=66 |issue= 10 |pages= 1580-1 |year= 2006 |pmid= 16717225 |doi= 10.1212/01.wnl.0000216135.59699.9b }}
*{{cite journal   |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Beausoleil SA, Villén J, Gerber SA, ''et al.'' |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285-92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240 }}
*{{cite journal   |vauthors=Suraweera A, Becherel OJ, Chen P, etal |title=Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. |journal=J. Cell Biol. |volume=177 |issue= 6 |pages= 969–79 |year= 2007 |pmid= 17562789 |doi= 10.1083/jcb.200701042 | pmc=2064358 }}
*{{cite journal | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Suraweera A, Becherel OJ, Chen P, ''et al.'' |title=Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. |journal=J. Cell Biol. |volume=177 |issue= 6 |pages= 969-79 |year= 2007 |pmid= 17562789 |doi= 10.1083/jcb.200701042 }}
}}
}}
{{refend}}
{{refend}}


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{{gene-9-stub}}

Latest revision as of 06:10, 11 September 2017

For the region of the U.S. state, see Southeast Texas.
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ 3.0 3.1 "Entrez Gene: SETX senataxin".

External links

Further reading



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