Human Gene SOD1 (uc002ypa.3) Description and Page Index
  Description: Homo sapiens superoxide dismutase 1, soluble (SOD1), mRNA.
RefSeq Summary (NM_000454): The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BI547103.1, BX359175.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr21:33,031,935-33,041,243 Size: 9,309 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr21:33,032,083-33,040,891 Size: 8,809 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:33,031,935-33,041,243)mRNA (may differ from genome)Protein (154 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MGIneXtProtOMIMPubMedReactomeStanford SOURCE
TreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SODC_HUMAN
DESCRIPTION: RecName: Full=Superoxide dismutase [Cu-Zn]; EC=1.15.1.1; AltName: Full=Superoxide dismutase 1; Short=hSod1;
FUNCTION: Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
CATALYTIC ACTIVITY: 2 superoxide + 2 H(+) = O(2) + H(2)O(2).
COFACTOR: Binds 1 copper ion per subunit.
COFACTOR: Binds 1 zinc ion per subunit.
SUBUNIT: Homodimer; non-disulfide linked. Homodimerization may take place via the ditryptophan cross-link at Trp-33. The pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 interact with RNF19A, whereas wild-type protein does not. The pathogenic variants ALS1 Arg-86 and Ala-94 interact with MARCH5, whereas wild-type protein does not.
INTERACTION: P26339:Chga (xeno); NbExp=5; IntAct=EBI-990792, EBI-990900; P16014:Chgb (xeno); NbExp=6; IntAct=EBI-990792, EBI-990820;
SUBCELLULAR LOCATION: Cytoplasm. Note=The pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria.
PTM: Unlike wild-type protein, the pathogenic variants ALS1 Arg- 38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation.
PTM: The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.
DISEASE: Defects in SOD1 are the cause of amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]. ALS1 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. 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 cases leading to familial forms.
MISCELLANEOUS: The protein (both wild-type and ALS1 variants) has a tendency to form fibrillar aggregates in the absence of the intramolecular disulfide bond or of bound zinc ions. These aggregates may have cytotoxic effects. Zinc binding promotes dimerization and stabilizes the native form.
SIMILARITY: Belongs to the Cu-Zn superoxide dismutase family.
WEB RESOURCE: Name=Alsod; Note=ALS genetic mutations db; URL="http://alsod.iop.kcl.ac.uk/Als/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOD1";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/sod1/";
WEB RESOURCE: Name=Wikipedia; Note=Superoxide dismutase entry; URL="http://en.wikipedia.org/wiki/Superoxide_dismutase";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SOD1
CDC HuGE Published Literature: SOD1
Positive Disease Associations: ALS/amyotrophic lateral sclerosis , amyotrophic lateral sclerosis cause novel protein interactions , familial amyotrophic lateral sclerosis , familial amyotrophic lateral sclerosis. , rapidly progressive familial amyotrophic lateral sclerosis , slowly progressive ALS
Related Studies:
  1. ALS/amyotrophic lateral sclerosis
    Mancuso, M. et al. 2002, A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis., Amyotrophic lateral sclerosis and other motor neuron disorders. 2002 Dec;3(4):215-8. [PubMed 12710511]
    Our results confirm that recessive D90A mutation is present in Italy and it is associated with the phenotype already described A screening for that mutation, easily made by RFLP, should be made in sporadic ALS patients, especially where clinical investigation indicates its presence.
  2. amyotrophic lateral sclerosis cause novel protein interactions
    Kunst CB et al. 1997, Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions., Nature genetics. 1997 Jan;15(1):91-4. [PubMed 8988176]
  3. familial amyotrophic lateral sclerosis
    Morita M et al. 1996, A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan., Neuroscience letters. 1996 Feb;205(2):79-82. [PubMed 8907321]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: SOD1
Diseases sorted by gene-association score: amyotrophic lateral sclerosis 1* (1622), lateral sclerosis* (490), motor neuron disease* (310), sod1-related amyotrophic lateral sclerosis* (100), eales disease (24), mild pre-eclampsia (22), anoxia (18), meningitis and encephalitis (12), coronary heart disease 2 (12), spinal and bulbar muscular atrophy of kennedy (12), bronchopulmonary dysplasia (12), postcholecystectomy syndrome (11), senile cataract (11), septooptic dysplasia (11), paraquat poisoning (10), adenoid hypertrophy (10), tonsillitis (10), cerebral hemorrhage (9), meningococcal infection (9), amyotrophic lateral sclerosis 16, juvenile (9), congenital methemoglobinemia (8), retinal vasculitis (8), amyotrophic lateral sclerosis 2, juvenile (8), ocular hyperemia (7), myocardial stunning (7), social phobia (7), head injury (7), brain edema (6), amyotrophic lateral sclerosis 18 (6), avascular necrosis of the femoral head (6), pneumoconiosis (6), huntington disease (6), recurrent acute pancreatitis (6), methemoglobinemia (6), acute vascular insufficiency of intestine (5), dementia, frontotemporal (5), hyperphenylalaninemia (5), amyotrophic lateral sclerosis 21 (5), retinal ischemia (5), tetrahydrobiopterin deficiency (5), brown-vialetto-van laere syndrome (4), ischemia (4), down syndrome (4), chronic kidney failure (2), parkinson disease, late-onset (2), nervous system disease (2), central nervous system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 235.89 RPKM in Liver
Total median expression: 4912.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -58.92148-0.398 Picture PostScript Text
3' UTR -68.14352-0.194 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024134 - SOD_Cu/Zn_/chaperones
IPR018152 - SOD_Cu/Zn_BS
IPR001424 - SOD_Cu_Zn_dom

Pfam Domains:
PF00080 - Copper/zinc superoxide dismutase (SODC)

SCOP Domains:
49329 - Cu,Zn superoxide dismutase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1AZV
- X-ray

1BA9
- NMR MuPIT

1DSW
- NMR MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1FUN - X-ray MuPIT 1HL4 - X-ray MuPIT 1HL5 - X-ray MuPIT
1KMG - NMR MuPIT 1L3N - NMR MuPIT 1MFM - X-ray MuPIT
1N18 - X-ray MuPIT 1N19 - X-ray MuPIT 1OEZ - X-ray MuPIT
1OZT - X-ray MuPIT 1OZU - X-ray 1P1V - X-ray
1PTZ - X-ray MuPIT 1PU0 - X-ray MuPIT 1RK7 - NMR MuPIT
1SOS - X-ray MuPIT 1SPD - X-ray MuPIT 1UXL - X-ray MuPIT
1UXM - X-ray MuPIT 2AF2 - NMR MuPIT 2C9S - X-ray MuPIT
2C9U - X-ray MuPIT 2C9V - X-ray MuPIT 2GBT - X-ray MuPIT
2GBU - X-ray MuPIT 2GBV - X-ray MuPIT 2LU5 - NMR MuPIT
2NNX - X-ray 2R27 - X-ray MuPIT 2V0A - X-ray
2VR6 - X-ray MuPIT 2VR7 - X-ray MuPIT 2VR8 - X-ray MuPIT
2WKO - X-ray 2WYT - X-ray MuPIT 2WYZ - X-ray MuPIT
2WZ0 - X-ray MuPIT 2WZ5 - X-ray MuPIT 2WZ6 - X-ray MuPIT
2XJK - X-ray MuPIT 2XJL - X-ray MuPIT 2ZKW - X-ray MuPIT
2ZKX - X-ray MuPIT 2ZKY - X-ray MuPIT 3CQP - X-ray
3CQQ - X-ray 3ECU - X-ray MuPIT 3ECV - X-ray MuPIT
3ECW - X-ray MuPIT 3GQF - X-ray MuPIT 3GTV - X-ray MuPIT
3GZO - X-ray MuPIT 3GZP - X-ray MuPIT 3GZQ - X-ray MuPIT
3H2P - X-ray MuPIT 3H2Q - X-ray MuPIT 3HFF - X-ray MuPIT
3K91 - X-ray MuPIT 3KH3 - X-ray MuPIT 3KH4 - X-ray MuPIT
3LTV - X-ray MuPIT 3QQD - X-ray MuPIT 3RE0 - X-ray MuPIT
3T5W - X-ray MuPIT 4B3E - X-ray 4SOD - Model


ModBase Predicted Comparative 3D Structure on P00441
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004784 superoxide dismutase activity
GO:0005507 copper ion binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016209 antioxidant activity
GO:0016491 oxidoreductase activity
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:0007605 sensory perception of sound
GO:0007626 locomotory behavior
GO:0008089 anterograde axonal transport
GO:0008090 retrograde axonal transport
GO:0008217 regulation of blood pressure
GO:0009408 response to heat
GO:0010033 response to organic substance
GO:0019226 transmission of nerve impulse
GO:0019430 removal of superoxide radicals
GO:0031667 response to nutrient levels
GO:0032287 peripheral nervous system myelin maintenance
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:0035722 interleukin-12-mediated signaling pathway
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:0043087 regulation of GTPase 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:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005759 mitochondrial matrix
GO:0005764 lysosome
GO:0005777 peroxisome
GO:0005829 cytosol
GO:0030141 secretory granule
GO:0031012 extracellular matrix
GO:0031045 dense core granule
GO:0031410 cytoplasmic vesicle
GO:0032839 dendrite cytoplasm
GO:0032991 macromolecular complex
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043209 myelin sheath
GO:0070062 extracellular exosome
GO:1904115 axon cytoplasm
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  KJ892183 - Synthetic construct Homo sapiens clone ccsbBroadEn_01577 SOD1 gene, encodes complete protein.
KR710599 - Synthetic construct Homo sapiens clone CCSBHm_00014443 SOD1 (SOD1) mRNA, encodes complete protein.
KR710600 - Synthetic construct Homo sapiens clone CCSBHm_00014447 SOD1 (SOD1) mRNA, encodes complete protein.
KR710601 - Synthetic construct Homo sapiens clone CCSBHm_00014507 SOD1 (SOD1) mRNA, encodes complete protein.
KR710602 - Synthetic construct Homo sapiens clone CCSBHm_00014514 SOD1 (SOD1) mRNA, encodes complete protein.
JA482029 - Sequence 12 from Patent WO2011072091.
JE980321 - Sequence 12 from Patent EP2862929.
AK312116 - Homo sapiens cDNA, FLJ92398, Homo sapiens superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) (SOD1), mRNA.
JD150947 - Sequence 131971 from Patent EP1572962.
BC001034 - Homo sapiens superoxide dismutase 1, soluble, mRNA (cDNA clone MGC:2325 IMAGE:3140145), complete cds.
E00882 - cDNA encoding human superoxide dismutase.
X02317 - Human mRNA for Cu/Zn superoxide dismutase (SOD).
EF151142 - Homo sapiens superoxide dismutase 1 (SOD1) mRNA, complete cds.
EU794661 - Homo sapiens epididymis secretory protein Li 44 (HEL-S-44) mRNA, complete cds.
E06744 - cDNA fragment.
E06789 - cDNA encoding human super oxide dismutase(SOD).
EF143990 - Homo sapiens superoxide dismutase 1 (SOD1) mRNA, partial cds.
AB464254 - Synthetic construct DNA, clone: pF1KB8213, Homo sapiens SOD1 gene for superoxide dismutase 1, soluble, without stop codon, in Flexi system.
CR450355 - Homo sapiens full open reading frame cDNA clone RZPDo834A053D for gene SOD1, superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)); complete cds; without stopcodon.
BT006676 - Homo sapiens superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) mRNA, complete cds.
CU674512 - Synthetic construct Homo sapiens gateway clone IMAGE:100017938 5' read SOD1 mRNA.
AY450286 - Homo sapiens superoxide dismutase (SOD) mRNA, complete cds.
CR541742 - Homo sapiens full open reading frame cDNA clone RZPDo834E0529D for gene SOD1, superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)); complete cds, incl. stopcodon.
E00834 - cDNA coding human Cu,Zn-superoxide dismutase.
E01552 - DNA encoding human superoxide dismutase.
AY049787 - Homo sapiens soluble superoxide dismutase 1 (SOD1) gene, complete cds.
BD174112 - WO 2002064169-A/25: Method of treating disease in association with decrease in the expression of AOP-1 gene or AOP-1 and remedies for the disease.
FU760799 - Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
HW236994 - JP 2013091648-A/11: Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
E00383 - DNA coding of human superoxide dismutase.
FU760800 - Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
HW236995 - JP 2013091648-A/12: Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
FU760802 - Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
HW236997 - JP 2013091648-A/14: Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
FU760798 - Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
HW236993 - JP 2013091648-A/10: Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
JD022234 - Sequence 3258 from Patent EP1572962.
DD328936 - Allele-Specific RNA Interference.
DD328937 - Allele-Specific RNA Interference.
JD028551 - Sequence 9575 from Patent EP1572962.
JD026885 - Sequence 7909 from Patent EP1572962.
JD021512 - Sequence 2536 from Patent EP1572962.
JD032362 - Sequence 13386 from Patent EP1572962.
FU760801 - Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
HW236996 - JP 2013091648-A/13: Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
FU760797 - Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
HW236992 - JP 2013091648-A/9: Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
LQ021076 - Sequence 19 from Patent WO2015144924.
FU760795 - Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
HW236990 - JP 2013091648-A/7: Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
FU760796 - Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
HW236991 - JP 2013091648-A/8: Methods and Compositions to Treat and Detect Misfolded-SOD1 Mediated Diseases.
KM609556 - Homo sapiens isolate S3-T superoxide dismutase 1 (SOD1) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04146 - Peroxisome
hsa05014 - Amyotrophic lateral sclerosis (ALS)
hsa05016 - Huntington's disease
hsa05020 - Prion diseases

BioCyc Knowledge Library
DETOX1-PWY - superoxide radicals degradation

BioCarta from NCI Cancer Genome Anatomy Project
h_flumazenilPathway - Cardiac Protection Against ROS
h_freePathway - Free Radical Induced Apoptosis
h_longevityPathway - The IGF-1 Receptor and Longevity

Reactome (by CSHL, EBI, and GO)

Protein P00441 (Reactome details) participates in the following event(s):

R-HSA-3697860 SOD1:Zn2+ apoenzyme binds CCS:Zn2+:2xCu1+
R-HSA-482772 Release of platelet cytosolic components
R-HSA-3780958 SOD1:Zn2+ apoenzyme binds CCS:Cu1+ (mitochondrial)
R-HSA-3299753 CCS transfers Cu to SOD1 and oxidizes cysteine residues in SOD1
R-HSA-8951723 2xSOD1:CCS:Zn2+:2xCu1+ dimer dissociates
R-HSA-3780979 CCS transfers Cu to SOD1 (mitochondrial)
R-HSA-3299691 SOD1 catalyzes 2H+ + 2O2.- => O2 + H2O2 (cytosol)
R-HSA-3777112 SOD1 catalyzes 2H+ + O2.- => O2 + H2O2 (mitochondrial intermembrane space)
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-3299685 Detoxification of Reactive Oxygen Species
R-HSA-114608 Platelet degranulation
R-HSA-9020591 Interleukin-12 signaling
R-HSA-2262752 Cellular responses to stress
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-447115 Interleukin-12 family signaling
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-449147 Signaling by Interleukins
R-HSA-109582 Hemostasis
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A6NHJ0, D3DSE4, NM_000454, NP_000445, P00441, Q16669, Q16711, Q16838, Q16839, Q16840, Q6NR85, SODC_HUMAN
UCSC ID: uc002ypa.3
RefSeq Accession: NM_000454
Protein: P00441 (aka SODC_HUMAN)
CCDS: CCDS33536.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SOD1:
als-overview (Amyotrophic Lateral Sclerosis Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000454.4
exon count: 5CDS single in 3' UTR: no RNA size: 981
ORF size: 465CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1130.00frame shift in genome: no % Coverage: 98.37
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.