KEGG   Homo sapiens (human): 6683
Entry
6683              CDS       T01001                                 
Symbol
SPAST, ADPSP, FSP2, SPG4
Name
(RefSeq) spastin
  KO
K13254  spastin [EC:5.6.1.1]
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    6683 (SPAST)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    6683 (SPAST)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.1  Enzymes altering polypeptide conformation or assembly
    5.6.1.1  microtubule-severing ATPase
     6683 (SPAST)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    6683 (SPAST)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Microtubule severing proteins
     6683 (SPAST)
SSDB
Motif
Pfam: AAA AAA_lid_3 Vps4_C RuvB_N AAA_5 AAA_22 TIP49 AAA_14 AAA_16 TniB Mg_chelatase MIT IstB_IS21 DUF815 AAA_24 nSTAND3 AAA_2 DUF4368
Other DBs
NCBI-GeneID: 6683
NCBI-ProteinID: NP_055761
OMIM: 604277
HGNC: 11233
Ensembl: ENSG00000021574
UniProt: Q9UBP0 E5KRP5
Structure
Position
2:32063556..32157637
AA seq 616 aa
MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPESPHKRNLYYFSYPLFVG
FALLRLVAFHLGLLFVWLCQRFSRALMAAKRSSGAAPAPASASAPAPVPGGEAERVRVFH
KQAFEYISIALRIDEDEKAGQKEQAVEWYKKGIEELEKGIAVIVTGQGEQCERARRLQAK
MMTNLVMAKDRLQLLEKMQPVLPFSKSQTDVYNDSTNLACRNGHLQSESGAVPKRKDPLT
HTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQGSGPAPTTHKGTPKTNRTNK
PSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVIL
PSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEGE
KLVRALFAVARELQPSIIFIDEVDSLLCERREGEHDASRRLKTEFLIEFDGVQSAGDDRV
LVMGATNRPQELDEAVLRRFIKRVYVSLPNEETRLLLLKNLLCKQGSPLTQKELAQLARM
TDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQT
LEAYIRWNKDFGDTTV
NT seq 1851 nt   +upstreamnt  +downstreamnt
atgaattctccgggtggacgagggaagaagaaaggctccggcggcgccagcaacccggtg
cctcccaggcctccgcccccttgcctggcccccgcccctcccgccgccgggccggcccct
ccgcccgagtcgccgcataagcggaacctgtactatttctcctacccgctgtttgtaggc
ttcgcgctgctgcgtttggtcgccttccacctggggctcctcttcgtgtggctctgccag
cgcttctcccgcgccctcatggcagccaagaggagctccggggccgcgccagcacctgcc
tcggcctcggccccggcgccggtgccgggcggcgaggccgagcgcgtccgagtcttccac
aaacaggccttcgagtacatctccattgccctgcgcatcgatgaggatgagaaagcagga
cagaaggagcaagctgtggaatggtataagaaaggtattgaagaactggaaaaaggaata
gctgttatagttacaggacaaggtgaacagtgtgaaagagctagacgccttcaagctaaa
atgatgactaatttggttatggccaaggaccgcttacaacttctagagaagatgcaacca
gttttgccattttccaagtcacaaacggacgtctataatgacagtactaacttggcatgc
cgcaatggacatctccagtcagaaagtggagctgttccaaaaagaaaagaccccttaaca
cacactagtaattcactgcctcgttcaaaaacagttatgaaaactggatctgcaggcctt
tcaggccaccatagagcacctagttacagtggtttatccatggtttctggagtgaaacag
ggatctggtcctgctcctaccactcataagggtactccgaaaacaaataggacaaataaa
ccttctacccctacaactgctactcgtaagaaaaaagacttgaagaattttaggaatgtg
gacagcaaccttgctaaccttataatgaatgaaattgtggacaatggaacagctgttaaa
tttgatgatatagctggtcaagacttggcaaaacaagcattgcaagaaattgttattctt
ccttctctgaggcctgagttgttcacagggcttagagctcctgccagagggctgttactc
tttggtccacctgggaatgggaagacaatgctggctaaagcagtagctgcagaatcgaat
gcaaccttctttaatataagtgctgcaagtttaacttcaaaatacgtgggagaaggagag
aaattggtgagggctctttttgctgtggctcgagaacttcaaccttctataatttttata
gatgaagttgatagccttttgtgtgaaagaagagaaggggagcacgatgctagtagacgc
ctaaaaactgaatttctaatagaatttgatggtgtacagtctgctggagatgacagagta
cttgtaatgggtgcaactaataggccacaagagcttgatgaggctgttctcaggcgtttc
atcaaacgggtatatgtgtctttaccaaatgaggagacaagactacttttgcttaaaaat
ctgttatgtaaacaaggaagtccattgacccaaaaagaactagcacaacttgctagaatg
actgatggatactcaggaagtgacctaacagctttggcaaaagatgcagcactgggtcct
atccgagaactaaaaccagaacaggtgaagaatatgtctgccagtgagatgagaaatatt
cgattatctgacttcactgaatccttgaaaaaaataaaacgcagcgtcagccctcaaact
ttagaagcgtacatacgttggaacaaggactttggagataccactgtttaa

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Ontology (4)   
   KEGG BRITE (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (8)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (17)   
   RefSeq(nuc) (5)   
   GenBank (6)   
   EMBL (6)   
3D Structure (7)   
   PDB (7)   
Protein domain (18)   
   Pfam (18)   
All databases (72)   

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