|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:ALS1
gptkb:Cu/Zn_superoxide_dismutase
gptkb:SODC
gptkb:hSOD1
|
|
gptkbp:associatedWith
|
gptkb:familial_amyotrophic_lateral_sclerosis
amyotrophic lateral sclerosis
|
|
gptkbp:biologicalProcess
|
antioxidant activity
metal ion binding
protects cells from oxidative damage
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
gptkb:Joe_McCord
gptkb:Irwin_Fridovich
|
|
gptkbp:discoveredIn
|
1969
|
|
gptkbp:encodes
|
gptkb:superoxide_dismutase_[Cu-Zn]
|
|
gptkbp:Entrez_Gene_ID
|
6647
|
|
gptkbp:expressedIn
|
gptkb:cytoplasm
mitochondria
|
|
gptkbp:fullName
|
gptkb:superoxide_dismutase_1
|
|
gptkbp:function
|
catalyzes the dismutation of superoxide radicals
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:11179
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOD1 gene
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:length
|
5 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:21q22.11
chromosome 21
|
|
gptkbp:mouseModelAvailable
|
yes
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
protein misfolding
frameshift
gain of toxic function
|
|
gptkbp:numberOfAminoAcidsInProtein
|
153
|
|
gptkbp:OMIM
|
147450
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Sod1
|
|
gptkbp:pathway
|
oxidative stress response
detoxification of reactive oxygen species
|
|
gptkbp:product
|
homodimer
|
|
gptkbp:proteinCofactor
|
copper
zinc
|
|
gptkbp:proteinIsoform
|
multiple
|
|
gptkbp:significance
|
pathogenic mutations cause ALS
|
|
gptkbp:UniProtID
|
gptkb:P00441
|
|
gptkbp:bfsParent
|
gptkb:A4V
gptkb:G93A
gptkb:H46R
gptkb:I113T
|
|
gptkbp:bfsLayer
|
6
|