|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:ALS1
gptkb:Cu/Zn_superoxide_dismutase
gptkb:SOD-1
|
|
gptkbp:associatedWith
|
gptkb:familial_ALS
gptkb:sporadic_ALS
amyotrophic lateral sclerosis
|
|
gptkbp:clinical_test
|
genetic testing for ALS
|
|
gptkbp:cofactor
|
copper
zinc
|
|
gptkbp:discoveredBy
|
gptkb:Irwin_Fridovich
|
|
gptkbp:discoveredIn
|
1969
|
|
gptkbp:encodes
|
gptkb:superoxide_dismutase_[Cu-Zn]
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000142168
|
|
gptkbp:enzymeCommissionNumber
|
1.15.1.1
|
|
gptkbp:expressedIn
|
ubiquitous
|
|
gptkbp:fullName
|
gptkb:superoxide_dismutase_1
|
|
gptkbp:function
|
antioxidant defense
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
oxidative stress response
superoxide metabolic process
|
|
gptkbp:hasTranscriptVariant
|
gptkb:NM_000454.5
|
|
gptkbp:HGNC_ID
|
11179
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOD1
|
|
gptkbp:KEGGID
|
gptkb:hsa:6647
|
|
gptkbp:length
|
153 amino acids
|
|
gptkbp:locatedOnChromosome
|
21
|
|
gptkbp:location
|
gptkb:21q22.11
|
|
gptkbp:molecularWeight
|
15.9 kDa
|
|
gptkbp:mouse_model
|
gptkb:SOD1-G93A_transgenic_mouse
|
|
gptkbp:mutationAssociatedWith
|
gptkb:A4V
gptkb:D90A
gptkb:G93A
gptkb:H46R
gptkb:I113T
G85R
|
|
gptkbp:number_of_introns
|
4
|
|
gptkbp:numberOfExons
|
5
|
|
gptkbp:OMIM
|
147450
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse_SOD1
gptkb:rat_SOD1
|
|
gptkbp:pathogenic_variant
|
over 180 known mutations
|
|
gptkbp:PDB
|
gptkb:1HL5
gptkb:1SPD
gptkb:2C9V
|
|
gptkbp:protein_structure
|
homodimer
|
|
gptkbp:Reactome
|
gptkb:R-HSA-3299685
|
|
gptkbp:RefSeq
|
gptkb:NP_000445.1
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
mitochondria
|
|
gptkbp:UniProtID
|
gptkb:P00441
|
|
gptkbp:bfsParent
|
gptkb:Amyotrophic_lateral_sclerosis
|
|
gptkbp:bfsLayer
|
4
|