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

Gene name
SPAST, ADPSP, FSP2, SPG4
Definition
(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)
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: AAA AAA_lid_3 Vps4_C RuvB_N AAA_5 AAA_22 MIT TIP49 TniB AAA_14 AAA_2 Mg_chelatase DUF815 IstB_IS21 AAA_16 AAA_24 P66_CC AAA_18 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: 

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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