InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOD1

Summary

InnateDB Protein

IDBP-1611.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SOD1

Protein Name

superoxide dismutase 1, soluble

Synonyms

ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA; SOD;

Species

Homo sapiens

Ensembl Protein

ENSP00000270142

InnateDB Gene

IDBG-1609 (SOD1)

Protein Structure

UniProt Annotation

Function

Destroys radicals which are normally produced within the cells and which are toxic to biological systems.

Subcellular Localization

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic; the pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria.

Disease Associations

Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:10430435, ECO:0000269PubMed:10732812, ECO:0000269PubMed:11369193, ECO:0000269PubMed:11535232, ECO:0000269PubMed:12402272, ECO:0000269PubMed:14506936, ECO:0000269PubMed:21220647, ECO:0000269PubMed:21247266, ECO:0000269PubMed:7496169, ECO:0000269PubMed:7501156, ECO:0000269PubMed:7647793, ECO:0000269PubMed:7655468, ECO:0000269PubMed:7655469, ECO:0000269PubMed:7655471, ECO:0000269PubMed:7700376, ECO:0000269PubMed:7795609, ECO:0000269PubMed:7836951, ECO:0000269PubMed:7870076, ECO:0000269PubMed:7881433, ECO:0000269PubMed:7887412, ECO:0000269PubMed:7951252, ECO:0000269PubMed:7980516, ECO:0000269PubMed:7997024, ECO:0000269PubMed:8069312, ECO:0000269PubMed:8179602, ECO:0000269PubMed:8351519, ECO:0000269PubMed:8446170, ECO:0000269PubMed:8528216, ECO:0000269PubMed:8682505, ECO:0000269PubMed:8907321, ECO:0000269PubMed:8938700, ECO:0000269PubMed:8990014, ECO:0000269PubMed:9101297, ECO:0000269PubMed:9131652, ECO:0000269PubMed:9455977}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 84 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	84 [view]
Protein-Protein	76 [view]
Protein-DNA	8 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004784	superoxide dismutase activity
GO:0005507	copper ion binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0019899	enzyme binding
GO:0030346	protein phosphatase 2B binding
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding
GO:0048365	Rac GTPase binding
GO:0051087	chaperone binding

Biological Process

GO:0000187	activation of MAPK activity
GO:0000302	response to reactive oxygen species
GO:0000303	response to superoxide
GO:0001541	ovarian follicle development
GO:0001819	positive regulation of cytokine production
GO:0001890	placenta development
GO:0001895	retina homeostasis
GO:0001975	response to amphetamine
GO:0002262	myeloid cell homeostasis
GO:0002576	platelet degranulation
GO:0006749	glutathione metabolic process
GO:0006801	superoxide metabolic process
GO:0006879	cellular iron ion homeostasis
GO:0006979	response to oxidative stress
GO:0007283	spermatogenesis
GO:0007566	embryo implantation
GO:0007568	aging
GO:0007569	cell aging
GO:0007596	blood coagulation
GO:0007605	sensory perception of sound
GO:0007626	locomotory behavior
GO:0008089	anterograde axon cargo transport
GO:0008090	retrograde axon cargo transport
GO:0008217	regulation of blood pressure
GO:0008219	cell death
GO:0009408	response to heat
GO:0010033	response to organic substance
GO:0019226	transmission of nerve impulse
GO:0019430	removal of superoxide radicals
GO:0030168	platelet activation
GO:0031667	response to nutrient levels
GO:0032287	peripheral nervous system myelin maintenance
GO:0032314	regulation of Rac GTPase activity
GO:0032930	positive regulation of superoxide anion generation
GO:0033081	regulation of T cell differentiation in thymus
GO:0034465	response to carbon monoxide
GO:0034599	cellular response to oxidative stress
GO:0035865	cellular response to potassium ion
GO:0040014	regulation of multicellular organism growth
GO:0042493	response to drug
GO:0042542	response to hydrogen peroxide
GO:0042554	superoxide anion generation
GO:0043065	positive regulation of apoptotic process
GO:0043066	negative regulation of apoptotic process
GO:0043085	positive regulation of catalytic activity
GO:0043524	negative regulation of neuron apoptotic process
GO:0045471	response to ethanol
GO:0045541	negative regulation of cholesterol biosynthetic process
GO:0045859	regulation of protein kinase activity
GO:0046620	regulation of organ growth
GO:0046677	response to antibiotic
GO:0046688	response to copper ion
GO:0046716	muscle cell cellular homeostasis
GO:0048538	thymus development
GO:0048678	response to axon injury
GO:0050665	hydrogen peroxide biosynthetic process
GO:0051881	regulation of mitochondrial membrane potential
GO:0055114	oxidation-reduction process
GO:0060047	heart contraction
GO:0060052	neurofilament cytoskeleton organization
GO:0060087	relaxation of vascular smooth muscle
GO:0060088	auditory receptor cell stereocilium organization
GO:0071276	cellular response to cadmium ion
GO:0071318	cellular response to ATP
GO:0072593	reactive oxygen species metabolic process
GO:0097332	response to antipsychotic drug
GO:1902177	positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005758	mitochondrial intermembrane space
GO:0005759	mitochondrial matrix
GO:0005777	peroxisome
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0030141	secretory granule
GO:0031012	extracellular matrix
GO:0031045	dense core granule
GO:0031410	cytoplasmic vesicle
GO:0032839	dendrite cytoplasm
GO:0043005	neuron projection
GO:0043025	neuronal cell body
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome