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Literature summary for 5.6.1.1 extracted from

  • Schickel, J.; Beetz, C.; Froemmel, C.; Heide, G.; Sasse, A.; Hemmerich, P.; Deufel, T.
    Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin) (2006), Neurology, 66, 421-423.
    View publication on PubMed

Application

Application Comment Organism
medicine a major fraction of autosomal dominant cases of hereditary spastic paraplegia (HSP) is caused by mutations in SPG4 encoding spastin Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
coding sequence of spastin fused N-terminally to EGFP (pEGFP-N3 vector) Homo sapiens

Protein Variants

Protein Variants Comment Organism
406-415del localizes as wild type, but lacks microtubule severing activity Homo sapiens
I406V mutant resembles wild type Homo sapiens
K388R difference in localization and ability to sever microtubules Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endosome
-
Homo sapiens 5768
-
nucleus
-
Homo sapiens 5634
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + H2O Homo sapiens
-
ADP + phosphate
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
HEp-2 cell
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + H2O
-
Homo sapiens ADP + phosphate
-
?

Synonyms

Synonyms Comment Organism
spastin
-
Homo sapiens