Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:hereditary_spastic_paraplegia
|
gptkbp:biologicalProcess |
ATPase activity
microtubule binding |
gptkbp:discoveredBy |
2000
|
gptkbp:encodedBy |
SPAST gene
|
gptkbp:Entrez_Gene_ID |
6683
|
gptkbp:function |
microtubule severing
|
https://www.w3.org/2000/01/rdf-schema#label |
Spastin
|
gptkbp:length |
530 amino acids (short isoform)
616 amino acids (long isoform) |
gptkbp:locale |
gptkb:endoplasmic_reticulum
gptkb:cytoplasm |
gptkbp:locatedOnChromosome |
2p22.3
|
gptkbp:mutationAssociatedWith |
causes spastic paraplegia type 4 (SPG4)
|
gptkbp:OMIM |
604277
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
present in many eukaryotes
|
gptkbp:structure |
contains AAA ATPase domain
|
gptkbp:UniProtID |
Q9UBP0
|
gptkbp:bfsParent |
gptkb:ATPases_Associated_with_diverse_cellular_Activities
|
gptkbp:bfsLayer |
7
|