Homo sapiens (human): 80208 Help Entry 80208             CDS       T01001                                  Symbol SPG11, ALS5, CMT2X, KIAA1840 Name (RefSeq) spatacsin isoform 1   KO K19026   spatacsin Organism hsa  Homo sapiens (human) Pathway hsa04142   Lysosome biogenesis hsa05014   Amyotrophic lateral sclerosis hsa05022   Pathways of neurodegeneration - multiple diseases Network nt06550  Lysosome biogenesis   Element N02017   Retrieval of the lysosomal sorting receptor (CIMPR) from the endosome Disease H00058   Amyotrophic lateral sclerosis (ALS) H00264   Charcot-Marie-Tooth disease H00266   Hereditary spastic paraplegia Brite KEGG Orthology (KO) [BR:hsa00001]  09140 Cellular Processes   09141 Transport and catabolism    04142 Lysosome biogenesis     80208 (SPG11)  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) SSDB OrthologParalogGFIT Motif Pfam:  Spatacsin_C Motif Other DBs NCBI-GeneID:  80208 NCBI-ProteinID:  NP_079413 OMIM:  610844 HGNC:  11226 Ensembl:  ENSP00000261866.7 UniProt:  Q96JI7 Structure PDBPDBj LinkDB All DBs Position 15:complement(44562696..44663662) Genome browser AA seq 2443 aa AA seqDB search 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 NT seq 7332 nt NT seq  +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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