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A2AKX3 (SETX_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 60. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·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 homolog
SEN1 homolog
Gene names
Name:Setx
Synonyms:Als4, Kiaa0625
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length2646 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7

Subunit structure

Interacts with PER2; the interaction inhibits termination of circadian target genes. Ref.7

Subcellular location

Nucleusnucleoplasm. Nucleusnucleolus. Cytoplasm. Note: Most abundant in the nucleus By similarity. Detected in granules By similarity. Colocalized in cycling cells with FBL in the nucleolus By similarity. May be detected in the nucleolus only in cycling cells. Ref.6

Tissue specificity

Expressed in cerebellum, hippocampus, olfactory bulb, Bergmann glial fibers, stellate cells and Purkinje cells. Expressed in the epithelial cells of the lens but not in mature lens fiber cells. Expressed in the retina (highly expressed in inner and outer segments of photoreceptors and outer plexiform layer cells but weakly expressed in the inner plexiform and ganglion cell layers). Expressed in the kidney. Ref.6

Sequence similarities

Belongs to the DNA2/NAM7 helicase family.

Sequence caution

The sequence BAC32054.1 differs from that shown. Reason: Frameshift at position 699.

The sequence BAC97987.1 differs from that shown. Reason: The sequence differs from that shown because it is derived from pre-RNA.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A2AKX3-1)

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 2 (identifier: A2AKX3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-381: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 26462646Probable helicase senataxin
PRO_0000307777

Regions

Nucleotide binding1939 – 19468ATP Potential
Region2632 – 264615Necessary for nuclear localization By similarity
Motif2046 – 206318Bipartite nuclear localization signal By similarity

Amino acid modifications

Modified residue10021Phosphoserine By similarity
Modified residue10041Phosphoserine By similarity

Natural variations

Alternative sequence1 – 381381Missing in isoform 2.
VSP_028827

Experimental info

Sequence conflict6441S → C in BAC32054. Ref.2
Sequence conflict10481Q → R in BAC33309. Ref.2

Sequences

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

Last modified February 20, 2007. Version 1.
Checksum: 3036F84EFED4A098

FASTA2,646297,589
        10         20         30         40         50         60 
MSTCCWCTPG GSSTIDVLKR YASSTGSSEF QTADEDLCYC LECVAEYHRA RDEVPFLHEV 

        70         80         90        100        110        120 
LWELETLRLV SHFEKSMKAE AEDDDDLYIV DNNGEEQLFD CSGQDFENKL RVPLFEILKY 

       130        140        150        160        170        180 
PYLLLHERVN ELCVEALCRM EQNNCSFQVF DKYPGIYLFL VHPNEMVRRW AILTARNLGK 

       190        200        210        220        230        240 
VDRDDYYDLQ EVLTCLFKVI ELGLLESPDI YTSSVLEKGK LILLPAHMYD TTNYKNYWLG 

       250        260        270        280        290        300 
ICMLLTILEE QAMDSLLLGS DKQNDFMQSI LHTMEKQSDD DSMDPFWPAL HCFMVILDRL 

       310        320        330        340        350        360 
GSKVWGQLID PIEAFQTIIN NESYNREIQN IRNSSIRTKL EPEPHFDDMV TCSQIVYNFN 

       370        380        390        400        410        420 
PEKTKKDSGW RSAICPDYCP NMYEEMETLA NVLQSDIGQD MRVHNSTFLW FIPFVQSLMD 

       430        440        450        460        470        480 
LKDLGVAYIV EVIHHLYSEV KDVLNQTDAV CDKVTEFFIL ILISVIELHR NKKCLHLLWV 

       490        500        510        520        530        540 
SSQQWVEAVV KCAKLPTTAF VRSCEKSPGS TSRGAAIMSS LALHSVQSNS VQLACVQLIR 

       550        560        570        580        590        600 
GLLKEGYQLG QQTLCKRFWD KLNLFLRGNL SLGWQLTGQE THELQMCLKQ IIRNIKFKMP 

       610        620        630        640        650        660 
QYSTFGDSTS TFKTPPSFKE ESDKIDRKHK KNIYCLENCS PVSSKEPMKA DTHRVLMKVN 

       670        680        690        700        710        720 
TTEEENFKQH YIDLNEEEQE PLPAELCLKQ KSEALFSESA QEQVKISAEK SGKESSSYAP 

       730        740        750        760        770        780 
SNSTSRNGPE WGCDRGVIMS AHSLTDSSSD FMEQVSTSNE DVSLKDGSVG KTSKPSFKLQ 

       790        800        810        820        830        840 
KDEICAKLSH VIKKQIRKST LVDNIIDLEE NTAISDLENC SGTDGGALKE DSIGHNVPSD 

       850        860        870        880        890        900 
PVLDDKHEEQ KSQNSSLFKK EIKSEELDNS SSDDEDKLQI QEGRADDDLV SFTEVTDTLV 

       910        920        930        940        950        960 
KAPCEGHVKM VVESRDKEMR ESTALTSNLV EGQVPHDSSK PLVAGRQIDL CNITLISQTT 

       970        980        990       1000       1010       1020 
VIQFPSGLSK QNSFQLQKGD KRCLTANQNS AATCRGQVIV ISDSDEEEDE DEDERSSSEE 

      1030       1040       1050       1060       1070       1080 
NIKQSKACIG KDCSEHRSLA VNASVEKQLV KEEERYPVEF EDSESQVFEF ESSSEVFSVW 

      1090       1100       1110       1120       1130       1140 
QDHKIDSKNS LQGEQKSYVT HVADSTNNNL GCGDSVSEEV VRNKAEGVKE HAGPHSSVSA 

      1150       1160       1170       1180       1190       1200 
EEFCKTGVKK PKRKRYDKVT AEDPQRPSSS VGTDQLPDRR DLTESDLKSA DMGMATPSSS 

      1210       1220       1230       1240       1250       1260 
VERDSTILQK STKSRTHSKP VRKVPASKAT KKTHSDTRRG QSKSSCYISC RTSPAIVPPK 

      1270       1280       1290       1300       1310       1320 
KLRQCPEPTS TVEKLGLKKA PRKAFELSQR SLECIVQLRD HGKTVGVVDA PKKAKLISPQ 

      1330       1340       1350       1360       1370       1380 
TLSIKNNKKL LTSQDLQFQR LMRSRSHKKR DFDYKNTDTV RVSRIVQGSD VLEADSDEPD 

      1390       1400       1410       1420       1430       1440 
DHRVSEPLAI SNEKQLAKCM LSKTEVAEAS SDPWVTGITC LVNQCESRVL SGGVPTDVVM 

      1450       1460       1470       1480       1490       1500 
VSASEDPVDG GAVTVQVGEV ASVKAAEPAS SSDTDDDDNL FLTQHDPQDM DLCSQLENKT 

      1510       1520       1530       1540       1550       1560 
IIVAHKKDTV QREDSLSRPQ LESLSITKCK YKDCVETTKN QGEYCPRHSE AKAADDGLFR 

      1570       1580       1590       1600       1610       1620 
KPGLPLSVAR PLRPTTTKIF SSSSASRTAN LSKSLESTTL QQSALKNKSS GAQPNLKVTP 

      1630       1640       1650       1660       1670       1680 
PSSMGSQKPV AEVKSLCNIF HFQTPSSSSK QSCKLTFSEN RPTSAASPVN ILLPSQSIFD 

      1690       1700       1710       1720       1730       1740 
TFIKEVLKWK YQMFLNFDKC GAPTSLCQSI SRPVPVRFQD CAEYFNVFLP LIILNAFETV 

      1750       1760       1770       1780       1790       1800 
AQEWLSSPNK ENFYQLQLRK FPADYKKYWE FLIYLNESEL AKQLHPKEND LVFLAPEKSY 

      1810       1820       1830       1840       1850       1860 
MDRHGMQDCS HYYCGYVHKF RRTSVMRSGK AECSLCIQTQ DTLPASVKNL TRCIVISSLV 

      1870       1880       1890       1900       1910       1920 
TTQRKLKAMS LLSSRNQLAR AVLNPNPMDF CTKDLLTTTS ERIVAYLKDF NEDQKKAIET 

      1930       1940       1950       1960       1970       1980 
AYAMVKHSPS VAKICLIHGP PGTGKSKTIV GLLYRLLTEN QRKGHSDENF NAKIKQNRVL 

      1990       2000       2010       2020       2030       2040 
VCAPSNAAVD ELMKKIILEF KEKCKDKKNP LGNCGDINLV RLGPEKSINT EVLKFSLDSQ 

      2050       2060       2070       2080       2090       2100 
VNHRMKKDLP SHIQEMLRRK EILDAQLDEL SRQRALCRGG REMQRQELDE HIAIVSKERQ 

      2110       2120       2130       2140       2150       2160 
ELASKIKEVQ GRPQRAQNTI ILESHVICCT LSTSGGLLLE SAFRGQGGVP FSCVIVDEAG 

      2170       2180       2190       2200       2210       2220 
QSCEVETLSP LIHRCNKLIL VGDPKQLPPT VISMKAQEYG YDQSMMARFC KLLEENVEQN 

      2230       2240       2250       2260       2270       2280 
MIGRLPVLQL TIQYRMHPDI CLFPSNYVYN KNLKTNRLTE SIRCSSEWPF QPYLVFDVGD 

      2290       2300       2310       2320       2330       2340 
GSERRDNDSY INVQEIKLVM EIIKLIKEKR KDISFRNIGI ITHYKAQKTM IQKDLEKEFD 

      2350       2360       2370       2380       2390       2400 
KKGPAEVDTV DAFQGRQKDC IIVTCVRASA VQGSIGFLAS LQRLNVTITR AKYSLFILGH 

      2410       2420       2430       2440       2450       2460 
LRTLMENQHW YELIQDAQKR GAIIKTSDPN YRHDAMKILK LKPVLQRSLT HPPATAPEAP 

      2470       2480       2490       2500       2510       2520 
RPQGGLPSNR LDSGLATTSF AASLYHTPSD TVTSKGPERP LLQDRLRDPR LLRRLDAEAK 

      2530       2540       2550       2560       2570       2580 
GTFLKDPQPV SPQLPGVVHL LGEPGFPVVF QDLGFVVPPS TAIVAPLGSH RSPMQAEPPP 

      2590       2600       2610       2620       2630       2640 
AHPAAAASTS KRKYSDPDAG LSHKREPRAF SGEQGRHGSV THHVLRSTDW DRRRLDDSSA 


KRRQFL 

« Hide

Isoform 2 [UniParc].

Checksum: AA0DCF08E90FAEED
Show »

FASTA2,265253,320

References

« Hide 'large scale' references
[1]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
[2]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1050 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-858 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2464-2646.
Strain: C57BL/6J.
Tissue: Head, Retina and Testis.
[3]"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] OF 1745-2646 (ISOFORM 1).
Strain: 129 and C57BL/6.
Tissue: Brain and Mammary tumor.
[4]"Prediction of the coding sequences of mouse homologues of KIAA gene: III. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Nagase T., Ohara O., Koga H.
DNA Res. 10:167-180(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1915-2646 (ISOFORM 1).
Tissue: Embryonic tail.
[5]"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: IDENTIFICATION (ISOFORM 1).
Strain: C57BL/6J.
[6]"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: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[7]"Feedback regulation of transcriptional termination by the mammalian circadian clock PERIOD complex."
Padmanabhan K., Robles M.S., Westerling T., Weitz C.J.
Science 337:599-602(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN CIRCADIAN RHYTHMS, INTERACTION WITH PER2.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL772379, AL845267 Genomic DNA. Translation: CAM16246.1.
AL845267, AL772379 Genomic DNA. Translation: CAM23971.1.
AL845267 Genomic DNA. Translation: CAM23973.2.
AK044730 mRNA. Translation: BAC32054.1. Frameshift.
AK048354 mRNA. Translation: BAC33309.2.
AK077911 mRNA. Translation: BAC37058.1.
BC046382 mRNA. Translation: AAH46382.1.
BC058109 mRNA. Translation: AAH58109.2.
BC079604 mRNA. Translation: AAH79604.2.
AK129177 Transcribed RNA. Translation: BAC97987.1. Sequence problems.
BK001523 mRNA. Translation: DAA01946.1.
CCDSCCDS38090.1. [A2AKX3-1]
RefSeqNP_932150.2. NM_198033.2. [A2AKX3-1]
UniGeneMm.41867.

3D structure databases

ProteinModelPortalA2AKX3.
SMRA2AKX3. Positions 1907-2437.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid234629. 4 interactions.
DIPDIP-56995N.
IntActA2AKX3. 3 interactions.

PTM databases

PhosphoSiteA2AKX3.

Proteomic databases

PaxDbA2AKX3.
PRIDEA2AKX3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000061578; ENSMUSP00000051492; ENSMUSG00000043535. [A2AKX3-1]
GeneID269254.
KEGGmmu:269254.
UCSCuc008izm.1. mouse. [A2AKX3-1]

Organism-specific databases

CTD23064.
MGIMGI:2443480. Setx.
RougeSearch...

Phylogenomic databases

eggNOGCOG1112.
GeneTreeENSGT00730000110642.
HOVERGENHBG108476.
InParanoidA2AKX3.
KOK10706.
OMADMDLCSQ.
OrthoDBEOG7JX33B.
PhylomeDBA2AKX3.
TreeFamTF324634.

Gene expression databases

BgeeA2AKX3.
CleanExMM_SETX.
GenevestigatorA2AKX3.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR027417. P-loop_NTPase.
IPR026121. Senataxin.
[Graphical view]
PANTHERPTHR10887:SF336. PTHR10887:SF336. 1 hit.
SUPFAMSSF52540. SSF52540. 2 hits.
ProtoNetSearch...

Other

NextBio392760.
PROA2AKX3.
SOURCESearch...

Entry information

Entry nameSETX_MOUSE
AccessionPrimary (citable) accession number: A2AKX3
Secondary accession number(s): A2AKX4 expand/collapse secondary AC list , A2AR33, Q6IMG6, Q6PED8, Q6ZQ81, Q80V90, Q8C5P1, Q8C859, Q8C8P6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 60 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot