|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ALS1
gptkb:Cu/Zn_superoxide_dismutase
|
|
gptkbp:associatedWith
|
gptkb:familial_ALS
gptkb:ALS_type_1
amyotrophic lateral sclerosis
|
|
gptkbp:cofactor
|
copper
zinc
|
|
gptkbp:discoveredBy
|
gptkb:Irwin_Fridovich
|
|
gptkbp:discoveredIn
|
1969
|
|
gptkbp:encodes
|
gptkb:superoxide_dismutase_[Cu-Zn]
|
|
gptkbp:Entrez_Gene_ID
|
6647
|
|
gptkbp:enzymeCommissionNumber
|
1.15.1.1
|
|
gptkbp:expressedIn
|
gptkb:cytoplasm
gptkb:mitochondrial_intermembrane_space
|
|
gptkbp:fullName
|
gptkb:Superoxide_dismutase_1
|
|
gptkbp:function
|
catalyzes the dismutation of superoxide radicals
superoxide dismutase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
11179
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOD-1
|
|
gptkbp:involvedIn
|
aging
neurodegeneration
cellular response to oxidative stress
|
|
gptkbp:length
|
153 amino acids
|
|
gptkbp:locatedOnChromosome
|
21
|
|
gptkbp:location
|
gptkb:nucleus
gptkb:21q22.11
cytosol
extracellular space
mitochondrion
|
|
gptkbp:molecularWeight
|
16 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
toxic gain of function in ALS
|
|
gptkbp:OMIM
|
147450
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Saccharomyces_cerevisiae
gptkb:Caenorhabditis_elegans
gptkb:Drosophila_melanogaster
|
|
gptkbp:pathway
|
oxidative stress response
detoxification of reactive oxygen species
|
|
gptkbp:PDB
|
gptkb:1SPD
|
|
gptkbp:product
|
homodimer
|
|
gptkbp:RefSeq
|
gptkb:NM_000454
|
|
gptkbp:UniProtID
|
gptkb:P00441
|
|
gptkbp:bfsParent
|
gptkb:SOD1
|
|
gptkbp:bfsLayer
|
5
|