|
gptkbp:instanceOf
|
gptkb:enzyme
|
|
gptkbp:alternativeName
|
gptkb:Cu/Zn_superoxide_dismutase
gptkb:SOD1
|
|
gptkbp:associatedWith
|
amyotrophic lateral sclerosis
|
|
gptkbp:cofactor
|
copper
zinc
|
|
gptkbp:discoveredBy
|
gptkb:Irwin_Fridovich
|
|
gptkbp:discoveredIn
|
1969
|
|
gptkbp:EC_number
|
1.15.1.1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000142168
6647
|
|
gptkbp:expressedIn
|
many tissues
|
|
gptkbp:foundIn
|
gptkb:cytoplasm
gptkb:mitochondrial_intermembrane_space
|
|
gptkbp:function
|
catalyzes the dismutation of superoxide radicals
|
|
gptkbp:gene
|
gptkb:SOD1
|
|
gptkbp:geneType
|
protein-coding
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
superoxide dismutase 1
|
|
gptkbp:locatedOnChromosome
|
gptkb:21q22.11
|
|
gptkbp:location
|
mitochondria
cytosol
|
|
gptkbp:molecularWeight
|
16 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:A4V
gptkb:D90A
gptkb:G93A
gptkb:H46R
gptkb:I113T
gptkb:D101N
gptkb:E100G
gptkb:G127X
gptkb:G37R
gptkb:G41D
gptkb:N139K
G85R
L144F
V148G
linked to familial ALS
|
|
gptkbp:OMIM
|
147450
|
|
gptkbp:organism
|
gptkb:Mus_musculus
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
present in many eukaryotes
|
|
gptkbp:PDB
|
gptkb:1SPD
|
|
gptkbp:product
|
hydrogen peroxide
oxygen
|
|
gptkbp:proteinFamily
|
gptkb:superoxide_dismutase_family
|
|
gptkbp:RefSeq
|
gptkb:NM_000454
|
|
gptkbp:significance
|
biomarker for oxidative stress
|
|
gptkbp:structure
|
homodimer
|
|
gptkbp:substrate
|
gptkb:superoxide_anion
|
|
gptkbp:UniProtID
|
gptkb:P00441
|
|
gptkbp:bfsParent
|
gptkb:SOD1
|
|
gptkbp:bfsLayer
|
5
|