Q7Z333 (SETX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2677 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Nucleus › nucleoplasm. Nucleus › nucleolus. 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.

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Amyotrophic lateral sclerosis Disease mutation Neurodegeneration
Domain	Coiled coil
Ligand	ATP-binding Nucleotide-binding
Molecular function	Helicase Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	RNA processing Traceable author statement Ref.9. Source: UniProtKB cell death Inferred from electronic annotation. Source: UniProtKB-KW circadian rhythm Inferred from electronic annotation. Source: Compara double-strand break repair Inferred from direct assay Ref.9. Source: UniProtKB termination of RNA polymerase II transcription Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from direct assay Ref.9. Source: UniProtKB nucleolus Inferred from electronic annotation. Source: UniProtKB-SubCell nucleoplasm Inferred from direct assay Ref.9. Source: UniProtKB
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW DNA binding Inferred by curator Ref.9. Source: UniProtKB DNA helicase activity Traceable author statement Ref.9. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2677	2677	Probable helicase senataxin		PRO_0000080724
Regions
	Nucleotide binding	1963 – 1970	8	ATP Potential
	Region	2661 – 2677	17	Necessary for nuclear localization
	Coiled coil	2105 – 2136	32	Potential
	Motif	2070 – 2087	18	Bipartite nuclear localization signal Potential
Amino acid modifications
	Modified residue	615	1	Phosphoserine Ref.10
	Modified residue	1017	1	Phosphoserine Ref.7 Ref.10 Ref.11 Ref.12 Ref.14
	Modified residue	1019	1	Phosphoserine Ref.7 Ref.10 Ref.11 Ref.12 Ref.14
	Modified residue	1621	1	Phosphoserine Ref.8
Natural variations
	Alternative sequence	2367 – 2399	33	Missing in isoform 3.		VSP_017124
	Alternative sequence	2429	1	M → MQLLPRSFCVHVNHSPFFSP EPKYLHWALK in isoform 4.		VSP_028826
	Natural variant	3	1	T → I in ALS4; heterozygous. Corresponds to variant rs28941475 [ dbSNP | Ensembl ].		VAR_018776
	Natural variant	274	1	M → I in SCAR1. Ref.17		VAR_036646
	Natural variant	305	1	W → C in SCAR1. Ref.1		VAR_018777
	Natural variant	332	1	R → W in SCAR1. Ref.1 Corresponds to variant rs29001665 [ dbSNP | Ensembl ].		VAR_018778
	Natural variant	389	1	L → S in ALS4. Ref.15 Corresponds to variant rs29001584 [ dbSNP | Ensembl ].		VAR_018779
	Natural variant	413	1	P → L in SCAR1. Ref.1		VAR_018780
	Natural variant	603	1	N → D in SCAR1; atypical; associated with K-653. Ref.18		VAR_036647
	Natural variant	653	1	Q → K in SCAR1; atypical; associated with D-603. Ref.18		VAR_036648
	Natural variant	660	1	A → G. Corresponds to variant rs882709 [ dbSNP | Ensembl ].		VAR_018781
	Natural variant	1061	1	P → L. Corresponds to variant rs12352982 [ dbSNP | Ensembl ].		VAR_018782
	Natural variant	1152	1	F → C. Ref.1 Corresponds to variant rs3739922 [ dbSNP | Ensembl ].		VAR_018783
	Natural variant	1192	1	D → E. Ref.2 Ref.4 Corresponds to variant rs1185193 [ dbSNP | Ensembl ].		VAR_018784
	Natural variant	1221	1	K → N. Corresponds to variant rs12344006 [ dbSNP | Ensembl ].		VAR_056208
	Natural variant	1252	1	G → R. Ref.2 Ref.4 Corresponds to variant rs1183768 [ dbSNP | Ensembl ].		VAR_018785
	Natural variant	1294	1	R → C in SCAR1. Ref.17		VAR_036649
	Natural variant	1331	1	P → L. Corresponds to variant rs11243731 [ dbSNP | Ensembl ].		VAR_018786
	Natural variant	1386	1	I → V. Ref.2 Ref.4 Corresponds to variant rs543573 [ dbSNP | Ensembl ].		VAR_018787
	Natural variant	1756	1	F → S in SCAR1; heterozygous in a British family. Ref.1		VAR_018788
	Natural variant	1855	1	T → A. Ref.4 Corresponds to variant rs2296871 [ dbSNP | Ensembl ].		VAR_018789
	Natural variant	1855	1	T → P. Corresponds to variant rs2296871 [ dbSNP | Ensembl ].		VAR_059458
	Natural variant	2136	1	R → H in ALS4. Ref.15		VAR_018790
	Natural variant	2213	1	P → L in SCAR1. Ref.1 Corresponds to variant rs28940290 [ dbSNP | Ensembl ].		VAR_018791
	Natural variant	2368	1	P → R in SCAR1. Ref.16		VAR_036650
	Natural variant	2587	1	I → V. Ref.2 Ref.4 Ref.6 Corresponds to variant rs1056899 [ dbSNP | Ensembl ].		VAR_018792
	Natural variant	2612	1	S → G. Ref.4 Corresponds to variant rs3739927 [ dbSNP | Ensembl ].		VAR_018793
Experimental info
	Sequence conflict	657	1	L → S in CAD98045. Ref.2
	Sequence conflict	866	1	E → G in CAD97857. Ref.2
	Sequence conflict	894	1	K → E in CAH18105. Ref.2
	Sequence conflict	895	1	E → G in CAD98045. Ref.2
	Sequence conflict	895	1	E → G in BAA31600. Ref.5
	Sequence conflict	977	1	P → T in CAD97857. Ref.2
	Sequence conflict	1073	1	F → C in CAD97857. Ref.2
	Sequence conflict	1276	1	Q → E in BAA31600. Ref.5
	Sequence conflict	1593	1	R → G in CAH18105. Ref.2
	Sequence conflict	1626	1	N → K in CAD97857. Ref.2
	Sequence conflict	1634	1	I → V in CAH18105. Ref.2
	Sequence conflict	1648 – 1650	3	PVG → TRP in AAH32622. Ref.4
	Sequence conflict	1725	1	L → P in CAD97857. Ref.2
	Sequence conflict	1826	1	E → K in CAD98045. Ref.2
	Sequence conflict	1826	1	E → K in AAH32600. Ref.4
	Sequence conflict	1826	1	E → K in AAH32622. Ref.4
	Sequence conflict	1867	1	F → L in AAR13367. Ref.1
	Sequence conflict	1867	1	F → L in AAH32622. Ref.4
	Sequence conflict	2078	1	Q → L in CAD97857. Ref.2
	Sequence conflict	2324	1	M → E in BAB14299. Ref.6
	Sequence conflict	2423	1	G → E in CAH18105. Ref.2
	Sequence conflict	2458	1	D → G in CAH18105. Ref.2
	Sequence conflict	2539	1	P → S in CAD97857. Ref.2
	Sequence conflict	2565	1	H → R in CAD97857. Ref.2
	Sequence conflict	2577	1	F → L in BAB14299. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 4. Checksum: 552FFE4A23A83868	FASTA	2,677	302,880
	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
	Isoform 3 [UniParc]. Checksum: 6FBDACF73E59C50A	FASTA	2,644	299,420
	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 KEFDRKGFLA SLQRLNVTIT RAKYSLFILG HLRTLMENQH 2410 2420 2430 2440 2450 2460 WNQLIQDAQK RGAIIKTCDK NYRHDAVKIL KLKPVLQRSL THPPTIAPEG SRPQGGLPSS 2470 2480 2490 2500 2510 2520 KLDSGFAKTS VAASLYHTPS DSKEITLTVT SKDPERPPVH DQLQDPRLLK RMGIEVKGGI 2530 2540 2550 2560 2570 2580 FLWDPQPSSP QHPGATPPTG EPGFPVVHQD LSHIQQPAAV VAALSSHKPP VRGEPPAASP 2590 2600 2610 2620 2630 2640 EASTCQSKCD DPEEELCHRR EARAFSEGEQ EKCGSETHHT RRNSRWDKRT LEQEDSSSKK RKLL
	Isoform 4 [UniParc]. Checksum: 8CEE9E4BE6CB0526	FASTA	2,706	306,341
	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 ILGHLRTLMQ LLPRSFCVHV NHSPFFSPEP KYLHWALKEN 2470 2480 2490 2500 2510 2520 QHWNQLIQDA QKRGAIIKTC DKNYRHDAVK ILKLKPVLQR SLTHPPTIAP EGSRPQGGLP 2530 2540 2550 2560 2570 2580 SSKLDSGFAK TSVAASLYHT PSDSKEITLT VTSKDPERPP VHDQLQDPRL LKRMGIEVKG 2590 2600 2610 2620 2630 2640 GIFLWDPQPS SPQHPGATPP TGEPGFPVVH QDLSHIQQPA AVVAALSSHK PPVRGEPPAA 2650 2660 2670 2680 2690 2700 SPEASTCQSK CDDPEEELCH RREARAFSEG EQEKCGSETH HTRRNSRWDK RTLEQEDSSS KKRKLL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY.
[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

GeneReviews

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.
IPI	IPI00142538. IPI00646645. IPI00719643.
RefSeq	NP_055861.3. NM_015046.5.
UniGene	Hs.460317.
3D structure databases
ProteinModelPortal	Q7Z333.
SMR	Q7Z333. Positions 1958-2449.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z333. 5 interactions.
PTM databases
PhosphoSite	Q7Z333.
Polymorphism databases
DMDM	296453021.
Proteomic databases
PaxDb	Q7Z333.
PRIDE	Q7Z333.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000224140; ENSP00000224140; ENSG00000107290. ENST00000372169; ENSP00000361242; ENSG00000107290. ENST00000393220; ENSP00000376913; ENSG00000107290. ENST00000436441; ENSP00000409143; ENSG00000107290.
GeneID	23064.
KEGG	hsa:23064.
UCSC	uc004cbj.3. human. uc004cbk.3. human. uc010mzt.3. human.
Organism-specific databases
CTD	23064.
GeneCards	GC09M135136.
HGNC	HGNC:445. SETX.
HPA	HPA024105.
MIM	602433. phenotype. 606002. phenotype. 608465. gene.
neXtProt	NX_Q7Z333.
Orphanet	803. Amyotrophic lateral sclerosis. 64753. Spinocerebellar ataxia with axonal neuropathy type 2.
PharmGKB	PA24751.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1112.
HOVERGEN	HBG108476.
InParanoid	Q7Z333.
KO	K10706.
OMA	RLINHFE.
OrthoDB	EOG4XWFWX.
PhylomeDB	Q7Z333.
Gene expression databases
ArrayExpress	Q7Z333.
Bgee	Q7Z333.
Genevestigator	Q7Z333.
GermOnline	ENSG00000107290. Homo sapiens.
Family and domain databases
InterPro	IPR026121. Senataxin. [Graphical view]
PANTHER	PTHR10887:SF15. PTHR10887:SF15. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	SETX. human.
GenomeRNAi	23064.
NextBio	44145.
SOURCE	Search...

Entry information

Entry name

SETX_HUMAN

Accession

Primary (citable) accession number: Q7Z333
Secondary accession number(s): A2A396 , 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:	May 1, 2013
This is version 103 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.