KEGG   Homo sapiens (human): 80208
Entry
80208             CDS       T01001                                 
Symbol
SPG11, ALS5, CMT2X, KIAA1840
Name
(RefSeq) SPG11 vesicle trafficking associated, spatacsin
  KO
K19026  spatacsin
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00264  Charcot-Marie-Tooth disease
H00266  Hereditary spastic paraplegia
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)
SSDB
Motif
Pfam: Spatacsin_C
Other DBs
NCBI-GeneID: 80208
NCBI-ProteinID: NP_079413
OMIM: 610844
HGNC: 11226
Ensembl: ENSG00000104133
UniProt: Q96JI7
Position
15:complement(44562696..44663662)
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
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

  All links  
Disease (4)   
   OMIM (4)   
Gene (34)   
   RefGene (28)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (51)   
   RefSeq(nuc) (15)   
   GenBank (18)   
   EMBL (18)   
Protein domain (1)   
   Pfam (1)   
All databases (105)   

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