KEGG   Homo sapiens (human): 6683Help
Entry
6683              CDS       T01001                                 

Gene name
SPAST, ADPSP, FSP2, SPG4
Definition
(RefSeq) spastin
  KO
K13254  spastin [EC:3.6.4.3]
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia (SPG)
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
    3.6.4.3  microtubule-severing ATPase
     6683 (SPAST)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: AAA Vps4_C RuvB_N TniB AAA_5 AAA_22 MIT TIP49 AAA_2 AAA_14 Mg_chelatase DUF815 IstB_IS21 AAA_16 AAA_24 AAA_18 P66_CC DUF4368 AAA_33
Motif
Other DBs
NCBI-GeneID: 6683
NCBI-ProteinID: NP_055761
OMIM: 604277
HGNC: 11233
Ensembl: ENSG00000021574
Vega: OTTHUMG00000128455
Pharos: Q9UBP0(Tbio)
UniProt: Q9UBP0 E5KRP5
Structure
PDB: 

Jmol
Position
2p22.3
AA seq 616 aa AA seqDB search
MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPESPHKRNLYYFSYPLFVG
FALLRLVAFHLGLLFVWLCQRFSRALMAAKRSSGAAPAPASASAPAPVPGGEAERVRVFH
KQAFEYISIALRIDEDEKAGQKEQAVEWYKKGIEELEKGIAVIVTGQGEQCERARRLQAK
MMTNLVMAKDRLQLLEKMQPVLPFSKSQTDVYNDSTNLACRNGHLQSESGAVPKRKDPLT
HTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQGSGPAPTTHKGTPKTNRTNK
PSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVIL
PSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEGE
KLVRALFAVARELQPSIIFIDEVDSLLCERREGEHDASRRLKTEFLIEFDGVQSAGDDRV
LVMGATNRPQELDEAVLRRFIKRVYVSLPNEETRLLLLKNLLCKQGSPLTQKELAQLARM
TDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQT
LEAYIRWNKDFGDTTV
NT seq 1851 nt NT seq  +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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