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Q7Z333

- SETX_HUMAN

UniProt

Q7Z333 - SETX_HUMAN

Protein

Probable helicase senataxin

Gene

SETX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 4 (18 May 2010)
      Previous versions | rss
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    Functioni

    Probable helicase involved in RNA maturation. Required for the 3' transcriptional termination of PER1 and CRY2, plays an important role in the circadian rhythm regulation. Involved in DNA double-strand breaks damage response generated by oxidative stress.2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi1963 – 19708ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. DNA binding Source: UniProtKB
    3. DNA helicase activity Source: UniProtKB

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. circadian rhythm Source: Ensembl
    3. DNA duplex unwinding Source: GOC
    4. double-strand break repair Source: UniProtKB
    5. RNA processing Source: UniProtKB
    6. termination of RNA polymerase II transcription Source: Ensembl

    Keywords - Molecular functioni

    Helicase, Hydrolase

    Keywords - Biological processi

    Biological rhythms, DNA damage, DNA repair

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable helicase senataxin (EC:3.6.4.-)
    Alternative name(s):
    Amyotrophic lateral sclerosis 4 protein
    SEN1 homolog
    Gene namesi
    Name:SETX
    Synonyms:ALS4, KIAA0625, SCAR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:445. SETX.

    Subcellular locationi

    Nucleusnucleoplasm. Nucleusnucleolus. Cytoplasm
    Note: May be detected in the nucleolus only in cycling cells By similarity. Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleolus Source: UniProtKB-SubCell
    3. nucleoplasm Source: UniProtKB
    4. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1) [MIM:606002]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti274 – 2741M → I in SCAR1. 1 Publication
    VAR_036646
    Natural varianti305 – 3051W → C in SCAR1. 1 Publication
    VAR_018777
    Natural varianti332 – 3321R → W in SCAR1. 1 Publication
    Corresponds to variant rs29001665 [ dbSNP | Ensembl ].
    VAR_018778
    Natural varianti413 – 4131P → L in SCAR1. 1 Publication
    VAR_018780
    Natural varianti603 – 6031N → D in SCAR1; atypical; associated with K-653. 1 Publication
    Corresponds to variant rs116205032 [ dbSNP | Ensembl ].
    VAR_036647
    Natural varianti653 – 6531Q → K in SCAR1; atypical; associated with D-603. 1 Publication
    Corresponds to variant rs116333061 [ dbSNP | Ensembl ].
    VAR_036648
    Natural varianti1294 – 12941R → C in SCAR1. 1 Publication
    VAR_036649
    Natural varianti1756 – 17561F → S in SCAR1; heterozygous in a British family. 1 Publication
    VAR_018788
    Natural varianti2213 – 22131P → L in SCAR1. 1 Publication
    Corresponds to variant rs28940290 [ dbSNP | Ensembl ].
    VAR_018791
    Natural varianti2368 – 23681P → R in SCAR1. 1 Publication
    VAR_036650
    Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]: A form of amyotrophic lateral sclerosis with childhood- or adolescent-onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31T → I in ALS4; heterozygous.
    Corresponds to variant rs28941475 [ dbSNP | Ensembl ].
    VAR_018776
    Natural varianti389 – 3891L → S in ALS4. 1 Publication
    Corresponds to variant rs29001584 [ dbSNP | Ensembl ].
    VAR_018779
    Natural varianti2136 – 21361R → H in ALS4. 1 Publication
    VAR_018790

    Keywords - Diseasei

    Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

    Organism-specific databases

    MIMi602433. phenotype.
    606002. phenotype.
    Orphaneti357043. Amyotrophic lateral sclerosis type 4.
    64753. Spinocerebellar ataxia with axonal neuropathy type 2.
    PharmGKBiPA24751.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 26772677Probable helicase senataxinPRO_0000080724Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei615 – 6151Phosphoserine1 Publication
    Modified residuei1017 – 10171Phosphoserine5 Publications
    Modified residuei1019 – 10191Phosphoserine5 Publications
    Modified residuei1621 – 16211Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ7Z333.
    PaxDbiQ7Z333.
    PRIDEiQ7Z333.

    PTM databases

    PhosphoSiteiQ7Z333.

    Expressioni

    Tissue specificityi

    Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus).4 Publications

    Gene expression databases

    ArrayExpressiQ7Z333.
    BgeeiQ7Z333.
    GenevestigatoriQ7Z333.

    Organism-specific databases

    HPAiHPA024105.

    Interactioni

    Subunit structurei

    Interacts with PER2; the interaction inhibits termination of circadian target genes.By similarity

    Protein-protein interaction databases

    BioGridi116699. 6 interactions.
    IntActiQ7Z333. 8 interactions.
    MINTiMINT-4649968.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z333.
    SMRiQ7Z333. Positions 1958-2449.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2661 – 267717Necessary for nuclear localizationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili2105 – 213632Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi2070 – 208718Bipartite nuclear localization signalSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the DNA2/NAM7 helicase family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiCOG1112.
    HOVERGENiHBG108476.
    InParanoidiQ7Z333.
    KOiK10706.
    OMAiDMDLCSQ.
    OrthoDBiEOG7JX33B.
    PhylomeDBiQ7Z333.
    TreeFamiTF324634.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR027417. P-loop_NTPase.
    IPR026121. Senataxin.
    [Graphical view]
    PANTHERiPTHR10887:SF336. PTHR10887:SF336. 1 hit.
    SUPFAMiSSF52540. SSF52540. 2 hits.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7Z333-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA     50
    RDELPFLHEV LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD 100
    ITGQDFENKL RVPLLEILKY PYLLLHERVN ELCVEALCRM EQANCSFQVF 150
    DKHPGIYLFL VHPNEMVRRW AILTARNLGK VDRDDYYDLQ EVLLCLFKVI 200
    ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG ICMLLTILEE 250
    QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL 300
    GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV 350
    TCSQIVYNYN PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD 400
    MRVHNSTFLW FIPFVQSLMD LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV 450
    CDKVTEFFLL ILVSVIELHR NKKCLHLLWV SSQQWVEAVV KCAKLPTTAF 500
    TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR SLLKEGYQLG 550
    QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP 600
    PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM 650
    KVQDSVLIKA DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER 700
    AEDQIKISTR KQKSVKEISS YTPKDCTSRN GPERGCDRGI IVSTRLLTDS 750
    STDALEKVST SNEDFSLKDD ALAKTSKRKT KVQKDEICAK LSHVIKKQHR 800
    KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN LSLDPSGVLD 850
    DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT 900
    EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS 950
    DTLTDSQIDR DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA 1000
    NQNNVGDTSR GQVIIISDSD DDDDERILSL EKLTKQDKIC LEREHPEQHV 1050
    STVNSKEEKN PVKEEKTETL FQFEESDSQC FEFESSSEVF SVWQDHPDDN 1100
    NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE HTRPRSISVE 1150
    EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS 1200
    IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK 1250
    KGQNRSSNYL SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS 1300
    QRSLDYVAQL RDHGKTVGVV DTRKKTKLIS PQNLSVRNNK KLLTSQELQM 1350
    QRQIRPKSQK NRRRLSDCES TDVKRAGSHT AQNSDIFVPE SDRSDYNCTG 1400
    GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN QCDSVVLNGT 1450
    VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ 1500
    NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK 1550
    YKDCLETTKN QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS 1600
    SKSTSRIAGL SKSLETSSAL SPSLKNKSKG IQSILKVPQP VPLIAQKPVG 1650
    EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK YFPSSSPVNI LLSSQSVSDT 1700
    FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY GDYFNVFFPL 1750
    MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA 1800
    KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM 1850
    RNGKTECYLS IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN 1900
    QLARAVLNPN PMDFCTKDLL TTTSERIIAY LRDFNEDQKK AIETAYAMVK 1950
    HSPSVAKICL IHGPPGTGKS KTIVGLLYRL LTENQRKGHS DENSNAKIKQ 2000
    NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD INLVRLGPEK 2050
    SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL 2100
    CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI 2150
    ICCTLSTSGG LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN 2200
    KLILVGDPKQ LPPTVISMKA QEYGYDQSMM ARFCRLLEEN VEHNMISRLP 2250
    ILQLTVQYRM HPDICLFPSN YVYNRNLKTN RQTEAIRCSS DWPFQPYLVF 2300
    DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR NIGIITHYKA 2350
    QKTMIQKDLD KEFDRKGPAE VDTVDAFQGR QKDCVIVTCV RANSIQGSIG 2400
    FLASLQRLNV TITRAKYSLF ILGHLRTLME NQHWNQLIQD AQKRGAIIKT 2450
    CDKNYRHDAV KILKLKPVLQ RSLTHPPTIA PEGSRPQGGL PSSKLDSGFA 2500
    KTSVAASLYH TPSDSKEITL TVTSKDPERP PVHDQLQDPR LLKRMGIEVK 2550
    GGIFLWDPQP SSPQHPGATP PTGEPGFPVV HQDLSHIQQP AAVVAALSSH 2600
    KPPVRGEPPA ASPEASTCQS KCDDPEEELC HRREARAFSE GEQEKCGSET 2650
    HHTRRNSRWD KRTLEQEDSS SKKRKLL 2677
    Length:2,677
    Mass (Da):302,880
    Last modified:May 18, 2010 - v4
    Checksum:i552FFE4A23A83868
    GO
    Isoform 3 (identifier: Q7Z333-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2367-2399: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,644
    Mass (Da):299,420
    Checksum:i6FBDACF73E59C50A
    GO
    Isoform 4 (identifier: Q7Z333-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2429-2429: M → MQLLPRSFCVHVNHSPFFSPEPKYLHWALK

    Note: No experimental confirmation available.

    Show »
    Length:2,706
    Mass (Da):306,341
    Checksum:i8CEE9E4BE6CB0526
    GO

    Sequence cautioni

    The sequence CAD97857.1 differs from that shown. Reason: Frameshift at position 1626.
    The sequence BAA91701.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB14299.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti657 – 6571L → S in CAD98045. (PubMed:17974005)Curated
    Sequence conflicti866 – 8661E → G in CAD97857. (PubMed:17974005)Curated
    Sequence conflicti894 – 8941K → E in CAH18105. (PubMed:17974005)Curated
    Sequence conflicti895 – 8951E → G in CAD98045. (PubMed:17974005)Curated
    Sequence conflicti895 – 8951E → G in BAA31600. (PubMed:9734811)Curated
    Sequence conflicti977 – 9771P → T in CAD97857. (PubMed:17974005)Curated
    Sequence conflicti1073 – 10731F → C in CAD97857. (PubMed:17974005)Curated
    Sequence conflicti1276 – 12761Q → E in BAA31600. (PubMed:9734811)Curated
    Sequence conflicti1593 – 15931R → G in CAH18105. (PubMed:17974005)Curated
    Sequence conflicti1626 – 16261N → K in CAD97857. (PubMed:17974005)Curated
    Sequence conflicti1634 – 16341I → V in CAH18105. (PubMed:17974005)Curated
    Sequence conflicti1648 – 16503PVG → TRP in AAH32622. (PubMed:15489334)Curated
    Sequence conflicti1725 – 17251L → P in CAD97857. (PubMed:17974005)Curated
    Sequence conflicti1826 – 18261E → K in CAD98045. (PubMed:17974005)Curated
    Sequence conflicti1826 – 18261E → K in AAH32600. (PubMed:15489334)Curated
    Sequence conflicti1826 – 18261E → K in AAH32622. (PubMed:15489334)Curated
    Sequence conflicti1867 – 18671F → L in AAR13367. (PubMed:14770181)Curated
    Sequence conflicti1867 – 18671F → L in AAH32622. (PubMed:15489334)Curated
    Sequence conflicti2078 – 20781Q → L in CAD97857. (PubMed:17974005)Curated
    Sequence conflicti2324 – 23241M → E in BAB14299. (PubMed:14702039)Curated
    Sequence conflicti2423 – 24231G → E in CAH18105. (PubMed:17974005)Curated
    Sequence conflicti2458 – 24581D → G in CAH18105. (PubMed:17974005)Curated
    Sequence conflicti2539 – 25391P → S in CAD97857. (PubMed:17974005)Curated
    Sequence conflicti2565 – 25651H → R in CAD97857. (PubMed:17974005)Curated
    Sequence conflicti2577 – 25771F → L in BAB14299. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31T → I in ALS4; heterozygous.
    Corresponds to variant rs28941475 [ dbSNP | Ensembl ].
    VAR_018776
    Natural varianti274 – 2741M → I in SCAR1. 1 Publication
    VAR_036646
    Natural varianti305 – 3051W → C in SCAR1. 1 Publication
    VAR_018777
    Natural varianti332 – 3321R → W in SCAR1. 1 Publication
    Corresponds to variant rs29001665 [ dbSNP | Ensembl ].
    VAR_018778
    Natural varianti389 – 3891L → S in ALS4. 1 Publication
    Corresponds to variant rs29001584 [ dbSNP | Ensembl ].
    VAR_018779
    Natural varianti413 – 4131P → L in SCAR1. 1 Publication
    VAR_018780
    Natural varianti603 – 6031N → D in SCAR1; atypical; associated with K-653. 1 Publication
    Corresponds to variant rs116205032 [ dbSNP | Ensembl ].
    VAR_036647
    Natural varianti653 – 6531Q → K in SCAR1; atypical; associated with D-603. 1 Publication
    Corresponds to variant rs116333061 [ dbSNP | Ensembl ].
    VAR_036648
    Natural varianti660 – 6601A → G.
    Corresponds to variant rs882709 [ dbSNP | Ensembl ].
    VAR_018781
    Natural varianti1061 – 10611P → L.
    Corresponds to variant rs12352982 [ dbSNP | Ensembl ].
    VAR_018782
    Natural varianti1152 – 11521F → C.1 Publication
    Corresponds to variant rs3739922 [ dbSNP | Ensembl ].
    VAR_018783
    Natural varianti1192 – 11921D → E.2 Publications
    Corresponds to variant rs1185193 [ dbSNP | Ensembl ].
    VAR_018784
    Natural varianti1221 – 12211K → N.
    Corresponds to variant rs12344006 [ dbSNP | Ensembl ].
    VAR_056208
    Natural varianti1252 – 12521G → R.2 Publications
    Corresponds to variant rs1183768 [ dbSNP | Ensembl ].
    VAR_018785
    Natural varianti1294 – 12941R → C in SCAR1. 1 Publication
    VAR_036649
    Natural varianti1331 – 13311P → L.
    Corresponds to variant rs11243731 [ dbSNP | Ensembl ].
    VAR_018786
    Natural varianti1386 – 13861I → V.2 Publications
    Corresponds to variant rs543573 [ dbSNP | Ensembl ].
    VAR_018787
    Natural varianti1756 – 17561F → S in SCAR1; heterozygous in a British family. 1 Publication
    VAR_018788
    Natural varianti1855 – 18551T → A.1 Publication
    Corresponds to variant rs2296871 [ dbSNP | Ensembl ].
    VAR_018789
    Natural varianti1855 – 18551T → P.
    Corresponds to variant rs2296871 [ dbSNP | Ensembl ].
    VAR_059458
    Natural varianti2136 – 21361R → H in ALS4. 1 Publication
    VAR_018790
    Natural varianti2213 – 22131P → L in SCAR1. 1 Publication
    Corresponds to variant rs28940290 [ dbSNP | Ensembl ].
    VAR_018791
    Natural varianti2368 – 23681P → R in SCAR1. 1 Publication
    VAR_036650
    Natural varianti2587 – 25871I → V.3 Publications
    Corresponds to variant rs1056899 [ dbSNP | Ensembl ].
    VAR_018792
    Natural varianti2612 – 26121S → G.1 Publication
    Corresponds to variant rs3739927 [ dbSNP | Ensembl ].
    VAR_018793

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei2367 – 239933Missing in isoform 3. 1 PublicationVSP_017124Add
    BLAST
    Alternative sequencei2429 – 24291M → MQLLPRSFCVHVNHSPFFSP EPKYLHWALK in isoform 4. CuratedVSP_028826

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY362728 mRNA. Translation: AAR13367.1.
    BX537849 mRNA. Translation: CAD97857.1. Frameshift.
    BX538166 mRNA. Translation: CAD98045.1.
    CR749249 mRNA. Translation: CAH18105.1.
    AL159997, AL353701 Genomic DNA. Translation: CAI40854.1.
    AL159997 Genomic DNA. Translation: CAI40857.1.
    AL353701, AL159997 Genomic DNA. Translation: CAM14151.1.
    BC032600 mRNA. Translation: AAH32600.2.
    BC032622 mRNA. Translation: AAH32622.2.
    BC078166 mRNA. Translation: AAH78166.1.
    BC106017 mRNA. Translation: AAI06018.1.
    BC137350 mRNA. Translation: AAI37351.1.
    AB014525 mRNA. Translation: BAA31600.2.
    AK001456 mRNA. Translation: BAA91701.1. Different initiation.
    AK022902 mRNA. Translation: BAB14299.1. Different initiation.
    CCDSiCCDS6947.1. [Q7Z333-1]
    RefSeqiNP_055861.3. NM_015046.5. [Q7Z333-1]
    XP_005272228.1. XM_005272171.1. [Q7Z333-4]
    XP_005272229.1. XM_005272172.1. [Q7Z333-4]
    XP_005272230.1. XM_005272173.1. [Q7Z333-4]
    UniGeneiHs.460317.

    Genome annotation databases

    EnsembliENST00000224140; ENSP00000224140; ENSG00000107290. [Q7Z333-1]
    GeneIDi23064.
    KEGGihsa:23064.
    UCSCiuc004cbj.3. human. [Q7Z333-4]
    uc004cbk.3. human. [Q7Z333-1]
    uc010mzt.3. human. [Q7Z333-3]

    Polymorphism databases

    DMDMi296453021.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY362728 mRNA. Translation: AAR13367.1 .
    BX537849 mRNA. Translation: CAD97857.1 . Frameshift.
    BX538166 mRNA. Translation: CAD98045.1 .
    CR749249 mRNA. Translation: CAH18105.1 .
    AL159997 , AL353701 Genomic DNA. Translation: CAI40854.1 .
    AL159997 Genomic DNA. Translation: CAI40857.1 .
    AL353701 , AL159997 Genomic DNA. Translation: CAM14151.1 .
    BC032600 mRNA. Translation: AAH32600.2 .
    BC032622 mRNA. Translation: AAH32622.2 .
    BC078166 mRNA. Translation: AAH78166.1 .
    BC106017 mRNA. Translation: AAI06018.1 .
    BC137350 mRNA. Translation: AAI37351.1 .
    AB014525 mRNA. Translation: BAA31600.2 .
    AK001456 mRNA. Translation: BAA91701.1 . Different initiation.
    AK022902 mRNA. Translation: BAB14299.1 . Different initiation.
    CCDSi CCDS6947.1. [Q7Z333-1 ]
    RefSeqi NP_055861.3. NM_015046.5. [Q7Z333-1 ]
    XP_005272228.1. XM_005272171.1. [Q7Z333-4 ]
    XP_005272229.1. XM_005272172.1. [Q7Z333-4 ]
    XP_005272230.1. XM_005272173.1. [Q7Z333-4 ]
    UniGenei Hs.460317.

    3D structure databases

    ProteinModelPortali Q7Z333.
    SMRi Q7Z333. Positions 1958-2449.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116699. 6 interactions.
    IntActi Q7Z333. 8 interactions.
    MINTi MINT-4649968.

    PTM databases

    PhosphoSitei Q7Z333.

    Polymorphism databases

    DMDMi 296453021.

    Proteomic databases

    MaxQBi Q7Z333.
    PaxDbi Q7Z333.
    PRIDEi Q7Z333.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000224140 ; ENSP00000224140 ; ENSG00000107290 . [Q7Z333-1 ]
    GeneIDi 23064.
    KEGGi hsa:23064.
    UCSCi uc004cbj.3. human. [Q7Z333-4 ]
    uc004cbk.3. human. [Q7Z333-1 ]
    uc010mzt.3. human. [Q7Z333-3 ]

    Organism-specific databases

    CTDi 23064.
    GeneCardsi GC09M135136.
    GeneReviewsi SETX.
    HGNCi HGNC:445. SETX.
    HPAi HPA024105.
    MIMi 602433. phenotype.
    606002. phenotype.
    608465. gene.
    neXtProti NX_Q7Z333.
    Orphaneti 357043. Amyotrophic lateral sclerosis type 4.
    64753. Spinocerebellar ataxia with axonal neuropathy type 2.
    PharmGKBi PA24751.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1112.
    HOVERGENi HBG108476.
    InParanoidi Q7Z333.
    KOi K10706.
    OMAi DMDLCSQ.
    OrthoDBi EOG7JX33B.
    PhylomeDBi Q7Z333.
    TreeFami TF324634.

    Miscellaneous databases

    ChiTaRSi SETX. human.
    GeneWikii SETX.
    GenomeRNAii 23064.
    NextBioi 44145.
    PROi Q7Z333.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z333.
    Bgeei Q7Z333.
    Genevestigatori Q7Z333.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR027417. P-loop_NTPase.
    IPR026121. Senataxin.
    [Graphical view ]
    PANTHERi PTHR10887:SF336. PTHR10887:SF336. 1 hit.
    SUPFAMi SSF52540. SSF52540. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT CYS-1152, VARIANTS SCAR1 CYS-305; TRP-332; LEU-413; SER-1756 AND LEU-2213.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 447-2677 (ISOFORM 3), VARIANTS GLU-1192; ARG-1252; VAL-1386 AND VAL-2587.
      Tissue: Amygdala, Fetal kidney and Retina.
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLU-1192; ARG-1252; VAL-1386; ALA-1855; VAL-2587 AND GLY-2612.
      Tissue: Peripheral nerve, Retinoblastoma, Testis and Uterus.
    5. "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."
      Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-2677 (ISOFORM 1).
      Tissue: Brain.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1762-2677 (ISOFORM 1), VARIANT VAL-2587.
      Tissue: Teratocarcinoma.
    7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017 AND SER-1019, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1621, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage."
      Suraweera A., Becherel O.J., Chen P., Rundle N., Woods R., Nakamura J., Gatei M., Criscuolo C., Filla A., Chessa L., Fusser M., Epe B., Gueven N., Lavin M.F.
      J. Cell Biol. 177:969-979(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-615; SER-1017 AND SER-1019, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017 AND SER-1019, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017 AND SER-1019, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017 AND SER-1019, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. Cited for: VARIANTS ALS4 SER-389 AND HIS-2136, TISSUE SPECIFICITY.
    16. "Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease."
      Chen Y.-Z., Hashemi S.H., Anderson S.K., Huang Y., Moreira M.-C., Lynch D.R., Glass I.A., Chance P.F., Bennett C.L.
      Neurobiol. Dis. 23:97-108(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCAR1 ARG-2368, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    17. "Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX."
      Asaka T., Yokoji H., Ito J., Yamaguchi K., Matsushima A.
      Neurology 66:1580-1581(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCAR1 ILE-274 AND CYS-1294.
    18. "In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome."
      Bassuk A.G., Chen Y.Z., Batish S.D., Nagan N., Opal P., Chance P.F., Bennett C.L.
      Neurogenetics 8:45-49(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCAR1 ASP-603 AND LYS-653.

    Entry informationi

    Entry nameiSETX_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z333
    Secondary accession number(s): A2A396
    , B2RPB2, B5ME16, C9JQ10, O75120, Q3KQX4, Q5JUJ1, Q68DW5, Q6AZD7, Q7Z3J6, Q8WX33, Q9H9D1, Q9NVP9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 118 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3