KEGG   Homo sapiens (human): 23064
Entry
23064             CDS       T01001                                 
Symbol
SETX, ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2
Name
(RefSeq) senataxin
  KO
K10706  senataxin [EC:5.6.2.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00848  Ataxia with ocular apraxia
H01891  Autosomal recessive spinocerebellar ataxias
H02573  Autosomal recessive spinocerebellar ataxias with axonal neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    23064 (SETX)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    23064 (SETX)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Other transcription-related factors
    Transcription termination factor
     23064 (SETX)
SSDB
Motif
Pfam: AAA_11 AAA_12 AAA_19 UvrD-helicase AAA_30 AAA_22 Viral_helicase1 ResIII SLFN-g3_helicase Helicase_RecD AAA_16 nSTAND3 UvrD_C_2
Other DBs
NCBI-GeneID: 23064
NCBI-ProteinID: NP_055861
OMIM: 608465
HGNC: 445
Ensembl: ENSG00000107290
UniProt: Q7Z333
Position
9:complement(132261356..132356744)
AA seq 2677 aa
MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEV
LWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKY
PYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGK
VDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLG
ICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRL
GSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYN
PEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMD
LKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWV
SSQQWVEAVVKCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIR
SLLKEGYQLGQQSLCKRFWDKLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAP
PCNTFVDLTSACKISPASYNKEESEQMGKTSRKDMHCLEASSPTFSKEPMKVQDSVLIKA
DNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTERAEDQIKISTRKQKSVKEISS
YTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDDALAKTSKRKT
KVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHN
LSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFT
EMTNASEKKSSPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDR
DLHKLSLLAQASVITFPSDSPQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSD
DDDDERILSLEKLTKQDKICLEREHPEQHVSTVNSKEEKNPVKEEKTETLFQFEESDSQC
FEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNGQGCTDYVSEVVKKGAEGIEE
HTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNKRDLVGNDFKS
IDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYL
SCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVV
DTRKKTKLISPQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHT
AQNSDIFVPESDRSDYNCTGGTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLN
QCDSVVLNGTVPTNEVIVSTSEDPLGGGDPTARHIEMAALKEGEPDSSSDAEEDNLFLTQ
NDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQLESLSGTKCKYKDCLETTKN
QGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGLSKSLETSSAL
SPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESK
YFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNY
GDYFNVFFPLMVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELA
KQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLS
IQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLL
TTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRL
LTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGD
INLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRAL
CRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGG
LLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKA
QEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTN
RQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFR
NIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIG
FLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAV
KILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITL
TVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVV
HQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSE
GEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL
NT seq 8034 nt   +upstreamnt  +downstreamnt
atgagcacatgttgttggtgtacgccaggtggtgcttccaccattgacttcctaaagcgc
tatgcttccaacactccgtccggtgaatttcaaacagccgacgaagacctctgctactgc
ttggagtgtgtggctgagtaccacaaagcaagagatgaattgccattcttgcatgaggtt
ttatgggaattagaaaccttacgtctcataaatcactttgaaaaatccatgaaggcagaa
attggagatgatgatgagttatatatagtagacaataatggagagatgccactgtttgac
atcactgggcaagactttgaaaataagcttcgagttcctcttcttgaaatactgaaatat
ccttacttgcttctacatgaacgtgttaacgagttatgtgttgaagcactttgtcggatg
gaacaagccaattgctcctttcaggtgtttgataaacatccagggatctatttgttttta
gtccatcccaatgaaatggttcggcgttgggctatcttgactgcaagaaacttggggaaa
gtggacagagatgattattatgacttacaagaagttttactttgcctttttaaagtcatt
gagttggggcttttagagagtccagacatttatacttcttctgtcctagagaagggtaaa
ctgattcttctgccctcacacatgtatgatactaccaactacaaaagctattggttaggt
atttgcatgttgctgaccattcttgaggaacaagccatggattccctgttgttgggctca
gacaaacaaaatgattttatgcaatcgatacttcacactatggagagggaagcagatgat
gatagtgtggatcctttctggccagcgttacactgttttatggtgattctggatcgcctt
ggatctaaggtctggggtcaacttatggatcctattgtggcatttcaaaccattatcaac
aacgcaagctacaatagagagatccgacatatacggaacagctctgtaaggaccaagtta
gaaccggagtcctatttggatgatatggtgacttgcagccagatcgtatacaattataat
cctgaaaagaccaaaaaggattctggatggagaacagccatttgcccagattattgtcct
aacatgtatgaagaaatggaaacattagccagtgtacttcagtcagatattggtcaagac
atgcgtgttcataacagcacatttctatggttcatcccttttgtccagtccctcatggat
cttaaggatttgggtgtggcttacatagcacaggttgttaatcatctgtactctgaagtc
aaagaagtcctcaaccaaacagatgctgtgtgtgacaaagtcactgaattttttcttcta
attttggtatcagtgattgaactgcatagaaataaaaaatgtttgcatttgctgtgggta
agttcccagcaatgggtggaagccgtcgtcaaatgtgccaagcttcctaccactgcgttt
acacggagttctgagaaatcatctggaaattgctccaaaggaacagcaatgatatcttca
ctgtcattgcattccatgccatctaactctgtacaacttgcttatgtgcagctgattaga
agtctccttaaagaaggttatcagcttgggcagcagtctctttgcaagcgattctgggat
aagctcaacttattccttagaggaaatttatctctaggttggcagttgactagtcaggaa
acccatgagctacaaagttgcttaaagcaaattattagaaacataaaattcaaagcacct
ccatgtaacacttttgtggatctgacttctgcatgtaaaatctctcctgcatcttataat
aaagaagaaagtgaacaaatggggaagacgtctagaaaagatatgcattgtttggaagct
tccagcccaacattttctaaagaaccaatgaaagtgcaagacagtgtattgatcaaagca
gataacactatagaaggtgacaataatgagcaaaattatataaaggatgtgaaactagag
gaccatctcttagctgggtcatgcttaaagcagagtagtaaaaacatttttactgaaaga
gctgaagatcaaattaaaataagtacaaggaagcagaagtctgtaaaagagatctcttca
tatacaccaaaggactgtacttcaagaaatggtccagaaaggggatgtgacagaggaata
atagtatcaacacgtttgttgactgattctagcactgatgctttggaaaaagtgtccaca
tcgaatgaagatttctctttaaaggatgatgctcttgctaaaacctcaaaacgaaaaact
aaggtacagaaagatgaaatctgtgcaaagttatcacatgtaataaagaagcaacacagg
aagagtactttggtcgataatactatcaatttagatgaaaatttgactgtatctaacatt
gagagtttctattcaaggaaagatacaggagttcagaaaggagatggtttcatacacaat
ctttctttagaccctagtggtgttctggatgataagaatggagaacaaaaatctcaaaac
aatgtattgccaaaagagaaacaattaaagaatgaagaattagttattttctctttccat
gaaaacaattgtaaaatacaggaatttcatgttgatggtaaagaattgatcccttttaca
gaaatgaccaatgcttcagagaagaaatcatctccctttaaagatcttatgactgtacct
gaatcaagagatgaggagatgagtaatagtaccagtgtgatttattctaacttgacaaga
gaacaggcccctgacatcagtcctaaatctgacaccttaacggattctcagatagacaga
gaccttcacaaattatctttactagctcaagccagtgttattacgttcccatccgattca
cctcagaactcatcgcagctgcaaaggaaagtaaaagaagataaaagatgtttcacagct
aaccaaaataatgttggagatacctcccgtggacaggttattattatttcagattctgat
gatgatgatgatgaaagaatcctgagtcttgagaaactcactaaacaggacaaaatatgc
cttgagagggaacatccagagcagcacgtttcaacagttaatagtaaggaggaaaagaat
ccagtaaaggaagaaaagacagagactctttttcagtttgaggaatctgattctcagtgt
tttgagtttgaaagttcatctgaagtgttttcagtttggcaagatcatccagacgataat
aattcagttcaagatggtgagaaaaaatgtttggctcctatagccaatactacaaatggt
cagggttgtacagattatgtatctgaagttgttaaaaaaggagcagagggcattgaagaa
cacacaagaccacggagtatttctgttgaagaattttgtgaaattgaagtaaaaaagcct
aagagaaaacgatctgaaaaaccaatggctgaagatcctgtgaggccttcatcttctgtc
agaaatgagggccagtctgatactaataagagagatcttgtgggaaatgattttaaaagt
attgatagaaggacttcaactcccaattcacgtattcagagagccactacggtttcacaa
aagaagtcttcaaagctttgtacttgtacagaacccatcaggaaagttccagtttctaag
acccctaagaaaactcattcagatgccaaaaaaggacagaatagaagttcaaattaccta
agttgtagaacaactcctgctatagtgccgccaaagaaatttcgtcagtgtcctgagcca
acttcaacagctgagaaacttggcctgaaaaagggtcctcgtaaggcatatgagttgtcc
cagcggtctttggattatgtagctcaattacgtgatcatggcaaaactgttggagtagtt
gatacccgaaaaaagactaaattaatttctcctcagaacctgtctgtcagaaataataag
aaacttctgactagtcaagaacttcagatgcaaaggcagatcagacccaaatcacaaaaa
aatagacgaagactttctgattgtgaaagtacagatgttaaaagagcagggtcacataca
gcacagaattctgacatatttgtaccagaatctgataggtcagattataattgtacagga
ggaactgaggtacttgccaacagtaacagaaaacagttaataaaatgcatgccttctgaa
ccagaaaccataaaagcaaaacatgggtctccagcaactgatgatgcttgccctttgaac
cagtgtgattctgtagtgttaaatggaacagtaccaacaaatgaagtaattgtctccact
tcagaagaccctctgggtggaggtgatccaacagcacgtcatatagagatggcagctttg
aaagaaggagagcctgactccagcagtgatgcagaggaagataacttatttttaacccaa
aatgatcctgaagatatggatttatgttcacaaatggagaatgacaattataaactcatt
gaactaattcatggaaaagatacagttgaggttgaagaagattctgtaagtcggcctcag
ttggaatctttgagtggcacaaagtgtaagtacaaagattgtcttgaaaccacaaaaaac
cagggtgaatactgcccaaaacactctgaagtgaaagcagcagatgaagatgtatttcgt
aaacctggcttgcctcctcctgcatctaaacctttgagacctaccactaagatttttagc
tcaaagagtacttcacgaattgctggtctttctaaatctttggaaacttcttcagcactt
tcaccgtctctaaaaaataagtcaaaggggatacagtcgattttgaaagtaccacagcca
gttcccctcatagctcagaagccagttggtgaaatgaagaattcgtgcaatgttcttcat
cctcagtctccgaataattccaacaggcaaggttgcaaagttccatttggtgaaagcaaa
tattttccatcttcctctccagtaaacattcttttgtcatcacagtctgtctctgacacc
ttcgttaaagaggtcttaaaatggaaatatgaaatgtttttgaactttggtcagtgtggg
ccccctgcaagtctttgtcagtccatctcaagacctgtgcctgtcagatttcacaattat
ggagattattttaatgtttttttccctttgatggtattgaatacttttgaaacagtggca
caagaatggctcaactctccaaatagagagaatttctatcagttgcaagtacgaaaattt
cctgccgattatataaaatactgggagtttgcagtttatctggaagaatgtgaactggct
aaacagctttatccaaaggaaaacgatttggtgtttttagctcctgagagaataaatgaa
gagaagaaagatacagagagaaatgacatacaagatctccacgaatatcattctggttat
gttcataaatttcgccgcacgtcagtcatgcgtaatgggaaaactgagtgttacctttcc
atccagactcaagagaactttccggccaatttaaacgaacttgtgaattgtattgtaatc
agttctctggtaactacacaaaggaagttgaaagccatgtctctgttgggtagtcggaac
caactggctagagctgttctgaatccaaaccctatggacttctgtacaaaagatttactg
actacaacatctgagagaattattgcgtacttaagagatttcaatgaagatcaaaagaaa
gcaatagaaactgcatatgctatggtgaaacactcaccatcagttgccaaaatctgcttg
attcatggaccacctggaacaggaaaatcaaaaactattgttggcctcctctatcgtcta
ctgacagagaaccagaggaaggggcattcagacgaaaactccaatgccaaaatcaaacaa
aaccgtgtcctcgtgtgtgcaccttccaatgcagctgttgatgaactcatgaaaaaaatt
atccttgaattcaaagaaaaatgtaaagacaagaagaatcctttaggaaactgtggagat
ataaatttagtacgactgggtccagaaaagtctattaatagtgaggttctaaagttcagt
ttggacagccaagtaaaccacagaatgaaaaaagagttaccttctcatgttcaggcgatg
cataaaagaaaggaatttctagattatcagctggatgagctttcccggcagcgagctcta
tgccgaggtggacgggaaatacagaggcaagaattagatgaaaacatttccaaagtttct
aaggaaaggcaggaacttgcttctaaaattaaagaggttcaaggacgcccacagaaaaca
cagagtatcatcatcttagagtcccatatcatctgctgcacgttgagcacaagtggtggt
ttactacttgagtctgctttccgtgggcaagggggtgtccccttcagctgtgtcattgtt
gatgaggctggacagtcttgtgaaattgagactcttactccactcatccatcgctgcaat
aagctcatcctagtaggagatcctaagcagctccctccgacagtcatctctatgaaagca
caggagtatggctacgaccagtcaatgatggctcgcttctgcagactgctggaagagaat
gtagaacacaacatgatcagcaggctgcccattctacagctcactgttcagtacaggatg
catccagacatatgcctcttcccttctaattatgtttataacagaaacttaaaaacaaat
agacagacagaagccattcgatgttcatcagattggccatttcagccataccttgtgttt
gatgttggagatggttcagaaagacgggataatgactcatatataaatgttcaagaaata
aaactggtgatggaaataattaagcttattaaagacaaaagaaaggatgttagttttcga
aacattggcataataactcattacaaggcccagaagacgatgattcagaaggatttggac
aaagagttcgatagaaaaggaccagcagaagtagacactgtggatgcattccagggtcgg
cagaaggattgtgttattgttacgtgtgtcagagcaaatagcatccaaggttcaattgga
ttcctggcaagtttgcagagattgaatgtcaccatcacacgagccaagtacagcctcttc
atcctcggacatttgaggaccctgatggaaaaccagcattggaatcagctgattcaggat
gctcagaagcgtggtgccattattaagacctgtgacaaaaactatagacatgatgcagtg
aagattctgaaactcaagcctgtgctgcagagaagtctcactcaccctcctaccatagcc
ccagaggggtccagaccccagggtggtttgcccagcagcaagctagacagtggatttgcc
aagacatctgttgctgcttctctataccacacaccctctgactccaaggaaattactctt
actgttacttcaaaggaccctgaaagacctcctgttcatgaccaacttcaggacccacga
ctgctgaagaggatgggcattgaggtcaaaggaggaatattcctttgggatccacaaccc
tcgagcccccagcatcctggagcaacacctcctacgggcgagccgggcttccctgtcgtt
caccaggacctgagccatatacagcagcccgctgctgtagtggctgctctgagcagccac
aaacctcccgtgcggggcgaacctccagctgccagtcccgaggcttccacgtgtcagagc
aaatgtgatgacccggaagaggagctctgtcacaggagagaggccagggctttcagtgaa
ggggagcaggagaagtgtggttccgagacccatcacaccaggaggaactctaggtgggac
aagaggacactggagcaggaggacagcagttccaagaaaagaaagcttttatag

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