KEGG   Homo sapiens (human): 23064Help
Entry
23064             CDS       T01001                                 

Gene name
SETX, ALS4, AOA2, SCAR1, bA479K20.2
Definition
(RefSeq) senataxin (EC:3.6.1.-)
  KO
K10706  
senataxin [EC:3.6.4.-]
Organism
hsa  Homo sapiens (human)
Disease
H00058  
Amyotrophic lateral sclerosis (ALS)
H00848  
Ataxia with ocular apraxia (AOA)
H00856  
Distal hereditary motor neuropathies (dHMN)
Brite
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.-  
     23064 (SETX)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Other transcription-related factors
    Transcription termination factor
     23064 (SETX)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
9q34.13
AA seq 2677 aa AA seqDB search
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 NT seq  +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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