| Entry |
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| Symbol |
SPG11, ALS5, CMT2X, KIAA1840
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| Name |
(RefSeq) SPG11 vesicle trafficking associated, spatacsin
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| KO |
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| Organism |
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| Pathway |
| hsa05022 | Pathways of neurodegeneration - multiple diseases |
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| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
| H00264 | Charcot-Marie-Tooth disease |
| H00266 | Hereditary spastic paraplegia |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09160 Human Diseases
09164 Neurodegenerative disease
05014 Amyotrophic lateral sclerosis
80208 (SPG11)
05022 Pathways of neurodegeneration - multiple diseases
80208 (SPG11)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03400 DNA repair and recombination proteins [BR:hsa03400]
80208 (SPG11)
DNA repair and recombination proteins [BR:hsa03400]
Eukaryotic type
DSBR (double strand breaks repair)
HR (homologous recombination)
Other HR factors
80208 (SPG11)
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| SSDB |
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| Motif |
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| Other DBs |
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| LinkDB |
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| Position |
15:complement(44562696..44663662)
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| AA seq |
2443 aa
MAAEEGVASAASAGGSWGTAAMGRVLPMLLVPVPAEAMGQLGSRAQLRTQPEALGSLTAA
GSLQVLSLTPGSRGGGRCCLEGPFWHFLWEDSRNSSTPTEKPKLLALGENYELLIYEFNL
KDGRCDATILYSCSREALQKLIDDQDISISLLSLRILSFHNNTSLLFINKCVILHIIFPE
RDAAIRVLNCFTLPLPAQAVDMIIDTQLCRGILFVLSSLGWIYIFDVVDGTYVAHVDLAL
HKEDMCNEQQQEPAKISSFTSLKVSQDLDVAVIVSSSNSAVALNLNLYFRQHPGHLLCER
ILEDLPIQGPKGVDEDDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIKNSKLEVSCCA
PWFQDILHLESPESGNHSTSVQSWAFIPQDIMHGQYNVLQKDHAKTSDPGRSWKIMHISE
QEEPIELKCVSVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKCIPVDSSGDQQL
CFVLTENGLSLILFGLTQEEFLNRLMIHGSASTVDTLCHLNGWGRCSIPIHALEAGIENR
QLDTVNFFLKSKENLFNPSSKSSVSDQFDHLSSHLYLRNVEELIPALDLLCSAIRESYSE
PQSKHFSEQLLNLTLSFLNNQIKELFIHTEELDEHLQKGVNILTSYINELRTFMIKFPWK
LTDAIDEYDVHENVPKVKESNIWKKLSFEEVIASAILNNKIPEAQTFFRIDSHSAQKLEE
LIGIGLNLVFDNLKKNNIKEASELLKNMGFDVKGQLLKICFYTTNKNIRDFLVEILKEKN
YFSEKEKRTIDFVHQVEKLYLGHFQENMQIQSFPRYWIKEQDFFKHKSVLDSFLKYDCKD
EFNKQDHRIVLNWALWWDQLTQESILLPRISPEEYKSYSPEALWRYLTARHDWLNIILWI
GEFQTQHSYASLQQNKWPLLTVDVINQNTSCNNYMRNEILDKLARNGVFLASELEDFECF
LLRLSRIGGVIQDTLPVQNYKTKEGWDFHSQFILYCLEHSLQHLLYVYLDCYKLSPENCP
FLEKKELHEAHPWFEFLVQCRQVASNLTDPKLIFQASLANAQILIPTNQASVSSMLLEGH
TLLALATTMYSPGGVSQVVQNEENENCLKKVDPQLLKMALTPYPKLKTALFPQCTPPSVL
PSDITIYHLIQSLSPFDPSRLFGWQSANTLAIGDAWSHLPHFSSPDLVNKYAIVERLNFA
YYLHNGRPSFAFGTFLVQELIKSKTPKQLIQQVGNEAYVIGLSSFHIPSIGAACVCFLEL
LGLDSLKLRVDMKVANIILSYKCRNEDAQYSFIRESVAEKLSKLADGEKTTTEELLVLLE
EGTWNSIQQQEIKRLSSESSSQWALVVQFCRLHNMKLSISYLRECAKANDWLQFIIHSQL
HNYHPAEVKSLIQYFSPVIQDHLRLAFENLPSVPTSKMDSDQVCNKCPQELQGSKQEMTD
LFEILLQCSEEPDSWHWLLVEAVKQQAPILSVLASCLQGASAISCLCVWIITSVEDNVAT
EAMGHIQDSTEDHTWNLEDLSVIWRTLLTRQKSKTLIRGFQLFFKDSPLLLVMEMYELCM
FFRNYKEAEAKLLEFQKSLETLNTAATKVHPVIPAMWLEDQVCFLLKLMLQQCKTQYELG
KLLQLFVEREHLFSDGPDVKKLCILCQILKDTSIAINHTIITSYSIENLQHECRSILERL
QTDGQFALARRVAELAELPVDNLVIKEITQEMQTLKHIEQWSLKQARIDFWKKCHENFKK
NSISSKAASSFFSTQAHVACEHPTGWSSMEERHLLLTLAGHWLAQEDVVPLDKLEELEKQ
IWLCRITQHTLGRNQEETEPRFSRQISTSGELSFDSLASEFSFSKLAALNTSKYLELNSL
PSKETCENRLDWKEQESLNFLIGRLLDDGCVHEASRVCRYFHFYNPDVALVLHCRALASG
EASMEDLHPEIHALLQSAELLEEEAPDIPLRRVHSTSSLDSQKFVTVPSSNEVVTNLEVL
TSKCLHGKNYCRQVLCLYDLAKELGCSYTDVAAQDGEAMLRKILASQQPDRCKRAQAFIS
TQGLKPDTVAELVAEEVTRELLTSSQGTGHKQMFNPTEESQTFLQLTTLCQDRTLVGMKL
LDKISSVPHGELSCTTELLILAHHCFTLTCHMEGIIRVLQAAHMLTDNHLAPSEEYGLVV
RLLTGIGRYNEMTYIFDLLHKKHYFEVLMRKKLDPSGTLKTALLDYIKRCRPGDSEKHNM
IALCFSMCREIGENHEAAARIQLKLIESQPWEDSLKDGHQLKQLLLKALTLMLDAAESYA
KDSCVRQAQHCQRLTKLITLQIHFLNTGQNTMLINLGRHKLMDCILALPRFYQASIVAEA
YDFVPDWAEILYQQVILKGDFNYLEEFKQQRLLKSSIFEEISKKYKQHQPTDMVMENLKK
LLTYCEDVYLYYKLAYEHKFYEIVNVLLKDPQTGCCLKDMLAG |
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| NT seq |
7332 nt +upstreamnt +downstreamnt
atggctgcagaggaaggggtcgcgagtgctgcttccgccggcggtagctggggcaccgcg
gccatggggcgggttctaccgatgctgttggtgccagtccccgccgaggcgatggggcag
ctcggctcccgggcgcagctgcgcacacagccggaggctctggggagcctgacggctgcg
ggcagcctccaagtgctttctttgacgcctggcagccggggcgggggtcgctgctgcctg
gagggccccttctggcactttctatgggaggattctcgtaacagcagcacaccaactgaa
aagcccaaactgctcgctcttggtgaaaattatgaactgcttatctatgaatttaatttg
aaagatggaagatgtgatgcaaccattttgtatagctgtagtagggaggcattgcaaaag
ctcattgacgatcaagatatcagtatttccttattgtctttgagaatcctgtcatttcac
aataacacatcattactgttcatcaacaaatgtgtcatcctacatattatatttcctgaa
agagatgctgcaattagagtactcaactgtttcacacttcccttgcctgcacaggcagtg
gacatgattattgacacgcagctctgcagaggaattctttttgttttgagtagtttaggc
tggatctacatttttgatgttgtggatggtacatatgtagctcatgtggatttagcactt
cacaaagaagacatgtgtaatgagcagcaacaggagccagccaagatttcttcatttact
tcactgaaagtttctcaagacctcgatgttgcagtgattgtcagctcctccaactccgca
gttgctcttaacttaaatttgtatttcaggcaacacccaggacacctactgtgtgaaaga
atactagaagatcttcctattcaaggacctaagggcgtagatgaagatgatcctgttaac
tctgcctacaacatgaaactggccaagttttccttccaaattgataggtcttggaaagcc
cagctatcatcattgaatgaaacaataaagaactccaaactggaggtttcctgttgtgct
ccatggttccaggatattttgcatttggagtcacctgaatctggtaaccacagtacaagt
gtgcagagctgggccttcattccacaggacataatgcatgggcaatataatgttctacag
aaagatcatgccaagaccagtgatccaggaagatcatggaaaataatgcacatcagtgaa
caagaggaacccatagagcttaaatgtgtgtctgtgacaggattcactgcactgtttact
tgggaagtggaaaggatgggctataccattaccctctgggatttggagacccagggcatg
cagtgtttttcccttggcacaaagtgtattcctgtagacagtagtggagaccagcagctg
tgctttgttttgacagagaatggactctctctgattttgtttggtttgactcaagaagag
tttttaaacagactcatgatccatggaagtgccagcactgtggacactctttgtcatctc
aatggctggggaaggtgctcaattcccatacatgcactagaggccgggatagaaaatcgt
cagctggacacagtaaatttctttttgaagagcaaggaaaatctttttaatccatcctca
aaatcttctgtatctgatcagtttgatcacttgtcatcccatttatatttaagaaatgtg
gaagagctgataccagcattggatttactttgctcggcaattagagaaagttattctgaa
ccccaaagcaaacacttttcagaacaattgcttaatcttacactgtctttccttaacaac
caaataaaggagcttttcattcacactgaagaactagatgaacatctgcaaaaaggagtg
aacattttgactagctacattaatgaacttcgaaccttcatgataaagtttccttggaag
ctaacagatgctatagatgaatatgatgtacatgaaaatgtccccaaagtaaaggagagc
aatatatggaagaaactcagctttgaggaagttattgccagcgccattttaaacaacaaa
ataccagaggcacagactttcttcaggattgatagtcattctgctcaaaaacttgaggag
cttattggcataggcctaaatttggtctttgacaatttaaaaaagaacaatataaaggaa
gcctctgaacttttgaagaatatggggtttgatgtaaaaggccaattgctcaagatctgc
ttctatacaactaataaaaatatacgtgactttttggttgaaattttaaaagaaaaaaat
tatttttctgaaaaagagaaaagaactatagacttcgtgcatcaagttgagaagctttat
ttgggacatttccaagaaaatatgcaaatccagtcatttcccaggtactggataaaggaa
caagattttttcaagcacaagtctgttttggactcattcctgaaatatgattgtaaagat
gaatttaacaaacaggaccatagaattgtgttaaattgggctctgtggtgggatcaacta
acacaagaatccatccttctccccaggataagtccagaagaatacaaatcatattcccct
gaagccctctggagatacctcacagctcgccatgattggttaaacattatcttatggatt
ggagaatttcaaacccagcatagttatgcttcacttcagcagaacaaatggccccttctg
actgttgatgttattaaccagaatacttcctgtaacaactacatgaggaatgaaatttta
gataagctggccaggaatggggtttttttggcatctgaactggaagactttgaatgcttc
ctcctaagactgagccgtattggaggtgtaatacaggataccctccctgttcaaaactac
aagaccaaagaaggttgggatttccattctcaattcattctctattgtttggagcacagt
ctgcagcatcttctttatgtctaccttgactgttacaaacttagtcctgaaaattgtccc
tttttggaaaaaaaagagttacatgaagcacacccttggtttgaatttttagttcagtgt
cgacaagttgccagtaacttaacagatcccaaactgatcttccaggctagccttgcaaat
gctcagattttgattcccaccaatcaggccagtgtaagcagtatgctattggaaggacat
accctcctggcccttgctactacaatgtattctcctgggggtgtcagtcaggttgttcag
aatgaagaaaatgaaaactgtttgaagaaagtggatccccagctattgaagatggcatta
actccttaccccaagctaaaaactgctctcttcccacagtgcactcctcctagtgtcctg
ccatctgatattacaatctaccaccttattcagtcattatcaccctttgatcctagcaga
ttgtttggctggcagtctgctaacacactagctataggagatgcatggagtcatctccca
catttctctagccctgacctggttaataaatatgctatagtggaacgtctgaattttgct
tattatttacataatgggcggccatcatttgcatttggtacttttctggtccaggaatta
atcaagagcaagactcccaagcagctgatccagcaagtaggcaatgaagcctatgttata
gggctctcctccttccacataccttcaataggagctgcatgtgtttgtttcttagaattg
cttggccttgacagcctcaagctcagagttgatatgaaagtggccaatataattttgagc
tacaagtgcagaaatgaagatgctcagtacagctttatcagagagtctgtagccgaaaaa
ctatctaaactagctgatggtgaaaagacaaccacagaagaattgcttgttctcttagaa
gaaggtacatggaacagcattcagcaacaggaaataaagaggttatccagtgaatctagc
agccaatgggcattagtggtgcagttctgcaggctacacaatatgaaactaagcatatct
taccttagagaatgtgccaaagcaaatgattggctgcagttcattattcacagccaactc
cacaactaccacccagcagaggtgaaatcccttatccagtacttcagcccagtcattcaa
gaccacttaaggctggcttttgagaacttgccctcagtgcccacctccaaaatggacagc
gatcaagtctgcaataagtgcccccaggaacttcaaggaagcaaacaagagatgaccgat
ttatttgaaattctgctccaatgctcagaggagccagactcctggcactggcttctggtt
gaagcagtgaaacaacaggcccctatcctcagtgttctggcctcatgtctccagggtgcc
agtgccatttcttgtctctgtgtttggatcatcacttctgtggaggacaatgttgcaact
gaagcaatgggacacattcaggactcaacagaggaccatacctggaaccttgaggatctt
tcagtcatctggagaacattattaacaagacaaaagagcaaaactctcatcagaggtttc
cagcttttctttaaggattccccgttactactggtgatggagatgtatgaactgtgtatg
ttcttcaggaattataaagaagctgaagctaaacttctggagtttcagaagagccttgaa
acgcttaacacagcagccacaaaggtccaccctgtcatccctgccatgtggctggaggat
caggtgtgtttccttttgaagcttatgctacagcagtgtaagacccagtatgagctgggg
aagcttttacagctctttgttgaaagagagcatctcttctctgatggtccagatgtgaaa
aagctttgcatcctttgccagattttgaaggatacatccatagccattaatcatacaatt
attaccagctacagcattgagaatcttcagcatgaatgtagatctattttggaaagactg
cagacagatggacaattcgctttggccaggagggtagcagaattagctgagttacctgtg
gacaacttggttattaaagagataacacaggaaatgcagaccctaaaacacattgaacag
tggtcactaaaacaagcaagaattgacttctggaaaaaatgccatgagaattttaagaaa
aattcaatttcaagcaaagcagcttcttcctttttctcaacccaggcccatgtggcatgt
gagcacccaactggatggagcagcatggaggagcgccatctgctgctcaccttggcaggg
cactggcttgcccaggaggacgtggtgcccttggataagctggaggagctggagaagcag
atctggctgtgccgcatcacccagcacactcttggaagaaatcaggaggaaacagagccc
agattttctcgacagatctcaactagtggtgaactttcctttgatagtttagccagtgag
ttttccttctccaagttggctgctctgaacacatcaaaatacttagaacttaacagcctt
ccatccaaagagacatgcgagaatagattggattggaaagagcaggagtcactaaacttt
ttgattgggcgcctactggatgatggctgtgtgcatgaagcaagtagagtatgccggtat
tttcatttttataatccagatgtcgccttggtattgcactgcagagcactggcctcaggg
gaagctagtatggaggatctgcacccagagatccatgctctcctacaaagtgctgagctg
cttgaggaagaagcacccgacattcccctaaggagagtccacagcacttcaagtctggat
agtcagaagtttgtgacagtgccctccagtaatgaagtggtaactaacctggaagtgctg
acaagcaaatgcctccatgggaagaactactgtcgacaggtcctctgtctgtatgatctt
gccaaggagttgggctgttcctacacagatgttgctgctcaggatggtgaagccatgctc
cggaaaatcttggcctctcagcagcctgaccgatgcaaacgagcccaggccttcatcagc
acacagggccttaagccagatactgtggctgaactcgtggcagaagaggtgacacgggag
ctgcttacttcatcacagggaacaggacataagcagatgttcaacccaacagaggaaagc
cagacatttcttcagctgaccactctgtgtcaagaccgcacattggtaggcatgaagttg
ttggataagatttcctccgttccccatggggaactgtcttgcaccacagagctcctgatc
ctggcccatcattgcttcaccctgacgtgccacatggagggcatcatccgagtcctacag
gccgcccacatgctcacagataaccacctggcccccagtgaggagtatgggctggtggta
cggctcctcactggcattggaaggtacaacgagatgacatacatatttgatttgctgcat
aaaaagcactactttgaagtgctaatgaggaagaagttggatccgagtggtaccctgaaa
acagccctgctggactacatcaaacgctgccgtcctggagacagtgaaaagcacaatatg
attgccctgtgcttcagcatgtgccgggagattggcgagaaccacgaggcagctgcccgc
atccaactgaaattgattgagtctcagccctgggaggacagcctcaaggatgggcaccag
ctgaaacaactgctgctgaaggccctgactctgatgttggatgcagcagagagttatgcc
aaggactcctgtgtgcgacaggcccagcactgtcagcggctcaccaagttgataactctg
cagattcactttctgaacactggccagaacacaatgctcatcaacttgggccgccacaag
ctgatggactgtattctggccctacctcggttctaccaggcttctattgtggctgaggcc
tacgattttgttccagattgggctgaaattttataccagcaagtgattcttaaaggagac
tttaattacttggaagaatttaagcagcaaaggttattaaagtccagtatatttgaagag
atttccaaaaaatataaacaacatcagcctactgacatggtcatggaaaacctgaagaaa
ttactcacatattgtgaagatgtttacctgtattacaagttggcatacgaacacaagttt
tatgaaattgtaaatgtgcttctgaaggaccctcagacaggttgctgtctaaaggacatg
ctagcaggttag |
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