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Q7Z333 (SETX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable helicase senataxin

EC=3.6.4.-
Alternative name(s):
Amyotrophic lateral sclerosis 4 protein
SEN1 homolog
Gene names
Name:SETX
Synonyms:ALS4, KIAA0625, SCAR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2677 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable helicase, which may be involved in RNA maturation By similarity. Involved in DNA double-strand breaks damage response generated by oxidative stress. Ref.1 Ref.9

Subcellular location

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. Ref.9 Ref.16

Tissue specificity

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). Ref.1 Ref.9 Ref.15 Ref.16

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.16 Ref.17 Ref.18

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15

Sequence similarities

Belongs to the DNA2/NAM7 helicase family.

Sequence caution

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.

The sequence CAD97857.1 differs from that shown. Reason: Frameshift at position 1626.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z333-1)

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.
Isoform 3 (identifier: Q7Z333-3)

The sequence of this isoform differs from the canonical sequence as follows:
     2367-2399: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q7Z333-4)

The sequence of this isoform differs from the canonical sequence as follows:
     2429-2429: M → MQLLPRSFCVHVNHSPFFSPEPKYLHWALK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 26772677Probable helicase senataxin
PRO_0000080724

Regions

Nucleotide binding1963 – 19708ATP Potential
Region2661 – 267717Necessary for nuclear localization
Coiled coil2105 – 213632 Potential
Motif2070 – 208718Bipartite nuclear localization signal Potential

Amino acid modifications

Modified residue6151Phosphoserine Ref.10
Modified residue10171Phosphoserine Ref.7 Ref.10 Ref.11 Ref.12 Ref.14
Modified residue10191Phosphoserine Ref.7 Ref.10 Ref.11 Ref.12 Ref.14
Modified residue16211Phosphoserine Ref.8

Natural variations

Alternative sequence2367 – 239933Missing in isoform 3.
VSP_017124
Alternative sequence24291M → MQLLPRSFCVHVNHSPFFSP EPKYLHWALK in isoform 4.
VSP_028826
Natural variant31T → I in ALS4; heterozygous.
Corresponds to variant rs28941475 [ dbSNP | Ensembl ].
VAR_018776
Natural variant2741M → I in SCAR1. Ref.17
VAR_036646
Natural variant3051W → C in SCAR1. Ref.1
VAR_018777
Natural variant3321R → W in SCAR1. Ref.1
Corresponds to variant rs29001665 [ dbSNP | Ensembl ].
VAR_018778
Natural variant3891L → S in ALS4. Ref.15
Corresponds to variant rs29001584 [ dbSNP | Ensembl ].
VAR_018779
Natural variant4131P → L in SCAR1. Ref.1
VAR_018780
Natural variant6031N → D in SCAR1; atypical; associated with K-653. Ref.18
Corresponds to variant rs116205032 [ dbSNP | Ensembl ].
VAR_036647
Natural variant6531Q → K in SCAR1; atypical; associated with D-603. Ref.18
Corresponds to variant rs116333061 [ dbSNP | Ensembl ].
VAR_036648
Natural variant6601A → G.
Corresponds to variant rs882709 [ dbSNP | Ensembl ].
VAR_018781
Natural variant10611P → L.
Corresponds to variant rs12352982 [ dbSNP | Ensembl ].
VAR_018782
Natural variant11521F → C. Ref.1
Corresponds to variant rs3739922 [ dbSNP | Ensembl ].
VAR_018783
Natural variant11921D → E. Ref.2 Ref.4
Corresponds to variant rs1185193 [ dbSNP | Ensembl ].
VAR_018784
Natural variant12211K → N.
Corresponds to variant rs12344006 [ dbSNP | Ensembl ].
VAR_056208
Natural variant12521G → R. Ref.2 Ref.4
Corresponds to variant rs1183768 [ dbSNP | Ensembl ].
VAR_018785
Natural variant12941R → C in SCAR1. Ref.17
VAR_036649
Natural variant13311P → L.
Corresponds to variant rs11243731 [ dbSNP | Ensembl ].
VAR_018786
Natural variant13861I → V. Ref.2 Ref.4
Corresponds to variant rs543573 [ dbSNP | Ensembl ].
VAR_018787
Natural variant17561F → S in SCAR1; heterozygous in a British family. Ref.1
VAR_018788
Natural variant18551T → A. Ref.4
Corresponds to variant rs2296871 [ dbSNP | Ensembl ].
VAR_018789
Natural variant18551T → P.
Corresponds to variant rs2296871 [ dbSNP | Ensembl ].
VAR_059458
Natural variant21361R → H in ALS4. Ref.15
VAR_018790
Natural variant22131P → L in SCAR1. Ref.1
Corresponds to variant rs28940290 [ dbSNP | Ensembl ].
VAR_018791
Natural variant23681P → R in SCAR1. Ref.16
VAR_036650
Natural variant25871I → V. Ref.2 Ref.4 Ref.6
Corresponds to variant rs1056899 [ dbSNP | Ensembl ].
VAR_018792
Natural variant26121S → G. Ref.4
Corresponds to variant rs3739927 [ dbSNP | Ensembl ].
VAR_018793

Experimental info

Sequence conflict6571L → S in CAD98045. Ref.2
Sequence conflict8661E → G in CAD97857. Ref.2
Sequence conflict8941K → E in CAH18105. Ref.2
Sequence conflict8951E → G in CAD98045. Ref.2
Sequence conflict8951E → G in BAA31600. Ref.5
Sequence conflict9771P → T in CAD97857. Ref.2
Sequence conflict10731F → C in CAD97857. Ref.2
Sequence conflict12761Q → E in BAA31600. Ref.5
Sequence conflict15931R → G in CAH18105. Ref.2
Sequence conflict16261N → K in CAD97857. Ref.2
Sequence conflict16341I → V in CAH18105. Ref.2
Sequence conflict1648 – 16503PVG → TRP in AAH32622. Ref.4
Sequence conflict17251L → P in CAD97857. Ref.2
Sequence conflict18261E → K in CAD98045. Ref.2
Sequence conflict18261E → K in AAH32600. Ref.4
Sequence conflict18261E → K in AAH32622. Ref.4
Sequence conflict18671F → L in AAR13367. Ref.1
Sequence conflict18671F → L in AAH32622. Ref.4
Sequence conflict20781Q → L in CAD97857. Ref.2
Sequence conflict23241M → E in BAB14299. Ref.6
Sequence conflict24231G → E in CAH18105. Ref.2
Sequence conflict24581D → G in CAH18105. Ref.2
Sequence conflict25391P → S in CAD97857. Ref.2
Sequence conflict25651H → R in CAD97857. Ref.2
Sequence conflict25771F → L in BAB14299. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 4.
Checksum: 552FFE4A23A83868

FASTA2,677302,880
        10         20         30         40         50         60 
MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA RDELPFLHEV 

        70         80         90        100        110        120 
LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD ITGQDFENKL RVPLLEILKY 

       130        140        150        160        170        180 
PYLLLHERVN ELCVEALCRM EQANCSFQVF DKHPGIYLFL VHPNEMVRRW AILTARNLGK 

       190        200        210        220        230        240 
VDRDDYYDLQ EVLLCLFKVI ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG 

       250        260        270        280        290        300 
ICMLLTILEE QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL 

       310        320        330        340        350        360 
GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV TCSQIVYNYN 

       370        380        390        400        410        420 
PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD MRVHNSTFLW FIPFVQSLMD 

       430        440        450        460        470        480 
LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV CDKVTEFFLL ILVSVIELHR NKKCLHLLWV 

       490        500        510        520        530        540 
SSQQWVEAVV KCAKLPTTAF TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR 

       550        560        570        580        590        600 
SLLKEGYQLG QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP 

       610        620        630        640        650        660 
PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM KVQDSVLIKA 

       670        680        690        700        710        720 
DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER AEDQIKISTR KQKSVKEISS 

       730        740        750        760        770        780 
YTPKDCTSRN GPERGCDRGI IVSTRLLTDS STDALEKVST SNEDFSLKDD ALAKTSKRKT 

       790        800        810        820        830        840 
KVQKDEICAK LSHVIKKQHR KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN 

       850        860        870        880        890        900 
LSLDPSGVLD DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT 

       910        920        930        940        950        960 
EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS DTLTDSQIDR 

       970        980        990       1000       1010       1020 
DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA NQNNVGDTSR GQVIIISDSD 

      1030       1040       1050       1060       1070       1080 
DDDDERILSL EKLTKQDKIC LEREHPEQHV STVNSKEEKN PVKEEKTETL FQFEESDSQC 

      1090       1100       1110       1120       1130       1140 
FEFESSSEVF SVWQDHPDDN NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE 

      1150       1160       1170       1180       1190       1200 
HTRPRSISVE EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS 

      1210       1220       1230       1240       1250       1260 
IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK KGQNRSSNYL 

      1270       1280       1290       1300       1310       1320 
SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS QRSLDYVAQL RDHGKTVGVV 

      1330       1340       1350       1360       1370       1380 
DTRKKTKLIS PQNLSVRNNK KLLTSQELQM QRQIRPKSQK NRRRLSDCES TDVKRAGSHT 

      1390       1400       1410       1420       1430       1440 
AQNSDIFVPE SDRSDYNCTG GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN 

      1450       1460       1470       1480       1490       1500 
QCDSVVLNGT VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ 

      1510       1520       1530       1540       1550       1560 
NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK YKDCLETTKN 

      1570       1580       1590       1600       1610       1620 
QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS SKSTSRIAGL SKSLETSSAL 

      1630       1640       1650       1660       1670       1680 
SPSLKNKSKG IQSILKVPQP VPLIAQKPVG EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK 

      1690       1700       1710       1720       1730       1740 
YFPSSSPVNI LLSSQSVSDT FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY 

      1750       1760       1770       1780       1790       1800 
GDYFNVFFPL MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA 

      1810       1820       1830       1840       1850       1860 
KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM RNGKTECYLS 

      1870       1880       1890       1900       1910       1920 
IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN QLARAVLNPN PMDFCTKDLL 

      1930       1940       1950       1960       1970       1980 
TTTSERIIAY LRDFNEDQKK AIETAYAMVK HSPSVAKICL IHGPPGTGKS KTIVGLLYRL 

      1990       2000       2010       2020       2030       2040 
LTENQRKGHS DENSNAKIKQ NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD 

      2050       2060       2070       2080       2090       2100 
INLVRLGPEK SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL 

      2110       2120       2130       2140       2150       2160 
CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI ICCTLSTSGG 

      2170       2180       2190       2200       2210       2220 
LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN KLILVGDPKQ LPPTVISMKA 

      2230       2240       2250       2260       2270       2280 
QEYGYDQSMM ARFCRLLEEN VEHNMISRLP ILQLTVQYRM HPDICLFPSN YVYNRNLKTN 

      2290       2300       2310       2320       2330       2340 
RQTEAIRCSS DWPFQPYLVF DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR 

      2350       2360       2370       2380       2390       2400 
NIGIITHYKA QKTMIQKDLD KEFDRKGPAE VDTVDAFQGR QKDCVIVTCV RANSIQGSIG 

      2410       2420       2430       2440       2450       2460 
FLASLQRLNV TITRAKYSLF ILGHLRTLME NQHWNQLIQD AQKRGAIIKT CDKNYRHDAV 

      2470       2480       2490       2500       2510       2520 
KILKLKPVLQ RSLTHPPTIA PEGSRPQGGL PSSKLDSGFA KTSVAASLYH TPSDSKEITL 

      2530       2540       2550       2560       2570       2580 
TVTSKDPERP PVHDQLQDPR LLKRMGIEVK GGIFLWDPQP SSPQHPGATP PTGEPGFPVV 

      2590       2600       2610       2620       2630       2640 
HQDLSHIQQP AAVVAALSSH KPPVRGEPPA ASPEASTCQS KCDDPEEELC HRREARAFSE 

      2650       2660       2670 
GEQEKCGSET HHTRRNSRWD KRTLEQEDSS SKKRKLL 

« Hide

Isoform 3 [UniParc].

Checksum: 6FBDACF73E59C50A
Show »

FASTA2,644299,420
Isoform 4 [UniParc].

Checksum: 8CEE9E4BE6CB0526
Show »

FASTA2,706306,341

References

« Hide 'large scale' references
[1]"Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2."
Moreira M.-C., Klur S., Watanabe M., Nemeth A.H., Le Ber I., Moniz J.-C., Tranchant C., Aubourg P., Tazir M., Schoels L., Pandolfo M., Schulz J.B., Pouget J., Calvas P., Shizuka-Ikeda M., Shoji M., Tanaka M., Izatt L. expand/collapse author list , Shaw C.E., M'Zahem A., Dunne E., Bomont P., Benhassine T., Bouslam N., Stevanin G., Brice A., Guimaraes J., Mendonca P., Barbot C., Coutinho P., Sequeiros J., Duerr A., Warter J.-M., Koenig M.
Nat. Genet. 36:225-227(2004) [PubMed] [Europe PMC] [Abstract]
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)."
Chen Y.-Z., Bennett C.L., Huynh H.M., Blair I.P., Puls I., Irobi J., Dierick I., Abel A., Kennerson M.L., Rabin B.A., Nicholson G.A., Auer-Grumbach M., Wagner K., De Jonghe P., Griffin J.W., Fischbeck K.H., Timmerman V., Cornblath D.R., Chance P.F.
Am. J. Hum. Genet. 74:1128-1135(2004) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_055861.3. NM_015046.5.
XP_005272228.1. XM_005272171.1.
XP_005272229.1. XM_005272172.1.
XP_005272230.1. XM_005272173.1.
UniGeneHs.460317.

3D structure databases

ProteinModelPortalQ7Z333.
SMRQ7Z333. Positions 1728-2463.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116699. 6 interactions.
IntActQ7Z333. 8 interactions.
MINTMINT-4649968.

PTM databases

PhosphoSiteQ7Z333.

Polymorphism databases

DMDM296453021.

Proteomic databases

PaxDbQ7Z333.
PRIDEQ7Z333.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000224140; ENSP00000224140; ENSG00000107290. [Q7Z333-1]
ENST00000372169; ENSP00000361242; ENSG00000107290. [Q7Z333-4]
ENST00000393220; ENSP00000376913; ENSG00000107290. [Q7Z333-3]
GeneID23064.
KEGGhsa:23064.
UCSCuc004cbj.3. human. [Q7Z333-4]
uc004cbk.3. human. [Q7Z333-1]
uc010mzt.3. human. [Q7Z333-3]

Organism-specific databases

CTD23064.
GeneCardsGC09M135136.
HGNCHGNC:445. SETX.
HPAHPA024105.
MIM602433. phenotype.
606002. phenotype.
608465. gene.
neXtProtNX_Q7Z333.
Orphanet357043. Amyotrophic lateral sclerosis type 4.
64753. Spinocerebellar ataxia with axonal neuropathy type 2.
PharmGKBPA24751.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1112.
HOVERGENHBG108476.
InParanoidQ7Z333.
KOK10706.
OMADMDLCSQ.
OrthoDBEOG7JX33B.
PhylomeDBQ7Z333.
TreeFamTF324634.

Gene expression databases

ArrayExpressQ7Z333.
BgeeQ7Z333.
GenevestigatorQ7Z333.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR027417. P-loop_NTPase.
IPR026121. Senataxin.
[Graphical view]
PANTHERPTHR10887:SF15. PTHR10887:SF15. 1 hit.
SUPFAMSSF52540. SSF52540. 2 hits.
ProtoNetSearch...

Other

ChiTaRSSETX. human.
GeneWikiSETX.
GenomeRNAi23064.
NextBio44145.
PROQ7Z333.
SOURCESearch...

Entry information

Entry nameSETX_HUMAN
AccessionPrimary (citable) accession number: Q7Z333
Secondary accession number(s): A2A396 expand/collapse secondary AC list , B2RPB2, B5ME16, C9JQ10, O75120, Q3KQX4, Q5JUJ1, Q68DW5, Q6AZD7, Q7Z3J6, Q8WX33, Q9H9D1, Q9NVP9
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 114 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM