Property Summary

NCBI Gene PubMed Count 55
Grant Count 24
R01 Count 19
Funding $3,139,299.27
PubMed Score 106.66
PubTator Score 95.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
hepatocellular carcinoma 1.300 0.000
astrocytic glioma 1.100 0.007
osteosarcoma 1.856 0.000
atypical teratoid / rhabdoid tumor 1.500 0.000
glioblastoma 1.500 0.000
group 4 medulloblastoma 1.200 0.001
medulloblastoma, large-cell 1.500 0.000
juvenile dermatomyositis 1.072 0.000
tuberculosis and treatment for 6 months -1.300 0.004
primary Sjogren syndrome 1.100 0.006
ovarian cancer -2.200 0.000
dermatomyositis 1.200 0.001

Gene RIF (39)

PMID Text
26231220 The role of senataxin in regulating gene expression on a genome-wide scale in Ataxia oculomotor apraxia 2 neurons is described.
25927548 AOA2 with myoclonus associated with mutations in SETX and AFG3L2
25822250 these data indicate a potentially causal link among inborn errors in SETX, susceptibility to infection and the development of neurologic disorders.
25699710 BRCA1/SETX complexes support a DNA repair mechanism that addresses R-loop-based DNA damage at transcriptional pause sites.
24760770 Results identify novel genes related to senataxin function in normal and disease states.
24694197 genetic variations in the senataxin gene may contribute to Alzheimer's disease pathogenesis in the Taiwanese Han population.
24244371 Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.
24105744 provide evidence that Rrp45, a subunit of the exosome, associates with SETX in a manner dependent on SETX sumoylation
23941260 SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
23786967 This study report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing
More...

AA Sequence

MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEVLWELETLRLI      1 - 70
NHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKYPYLLLHERVNELCVEALCRM     71 - 140
EQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGKVDRDDYYDLQEVLLCLFKVIELGLLESPDI    141 - 210
YTSSVLEKGKLILLPSHMYDTTNYKSYWLGICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADD    211 - 280
DSVDPFWPALHCFMVILDRLGSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMV    281 - 350
TCSQIVYNYNPEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMD    351 - 420
LKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWVSSQQWVEAVV    421 - 490
KCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIRSLLKEGYQLGQQSLCKRFWD    491 - 560
KLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAPPCNTFVDLTSACKISPASYNKEESEQMGKT    561 - 630
SRKDMHCLEASSPTFSKEPMKVQDSVLIKADNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTER    631 - 700
AEDQIKISTRKQKSVKEISSYTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDD    701 - 770
ALAKTSKRKTKVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHN    771 - 840
LSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFTEMTNASEKKS    841 - 910
SPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDRDLHKLSLLAQASVITFPSDS    911 - 980
PQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSDDDDDERILSLEKLTKQDKICLEREHPEQHV    981 - 1050
STVNSKEEKNPVKEEKTETLFQFEESDSQCFEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNG   1051 - 1120
QGCTDYVSEVVKKGAEGIEEHTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNK   1121 - 1190
RDLVGNDFKSIDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYL   1191 - 1260
SCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVVDTRKKTKLIS   1261 - 1330
PQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHTAQNSDIFVPESDRSDYNCTG   1331 - 1400
GTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLNQCDSVVLNGTVPTNEVIVSTSEDPLGGGDP   1401 - 1470
TARHIEMAALKEGEPDSSSDAEEDNLFLTQNDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQ   1471 - 1540
LESLSGTKCKYKDCLETTKNQGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGL   1541 - 1610
SKSLETSSALSPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESK   1611 - 1680
YFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNYGDYFNVFFPL   1681 - 1750
MVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELAKQLYPKENDLVFLAPERINE   1751 - 1820
EKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKL   1821 - 1890
KAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICL   1891 - 1960
IHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKD   1961 - 2030
KKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRAL   2031 - 2100
CRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQ   2101 - 2170
GGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEEN   2171 - 2240
VEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRD   2241 - 2310
NDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGR   2311 - 2380
QKDCVIVTCVRANSIQGSIGFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKT   2381 - 2450
CDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITL   2451 - 2520
TVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQP   2521 - 2590
AAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWD   2591 - 2660
KRTLEQEDSSSKKRKLL                                                        2661 - 2677
//

Text Mined References (63)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26700805 2016 SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination.
26231220 2015 A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.
25927548 2015 An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
25822250 2015 Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25699710 2015 BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
24760770 2014 Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
24694197 2014 Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan.
More...