Human Gene SOD1 (ENST00000389995.4) from GENCODE V41
  Description: Destroys radicals which are normally produced within the cells and which are toxic to biological systems (By similarity). (from UniProt H7BYH4)
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].
Gencode Transcript: ENST00000389995.4
Gencode Gene: ENSG00000142168.15
Transcript (Including UTRs)
   Position: hg38 chr21:31,659,666-31,668,931 Size: 9,266 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr21:31,659,770-31,668,578 Size: 8,809 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2022-05-14 09:57:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:31,659,666-31,668,931)mRNA (may differ from genome)Protein (135 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSCGAPEnsemblExonPrimerGencodeGeneCards
HGNCLynxMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H7BYH4_HUMAN
DESCRIPTION: RecName: Full=Superoxide dismutase [Cu-Zn]; EC=1.15.1.1;
FUNCTION: Destroys radicals which are normally produced within the cells and which are toxic to biological systems (By similarity).
CATALYTIC ACTIVITY: 2 superoxide + 2 H(+) = O(2) + H(2)O(2).
COFACTOR: Binds 1 copper ion per subunit (By similarity).
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
SIMILARITY: Belongs to the Cu-Zn superoxide dismutase family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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

-  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 -38.60104-0.371 Picture PostScript Text
3' UTR -65.40353-0.185 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)

ModBase Predicted Comparative 3D Structure on H7BYH4
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004784 superoxide dismutase activity
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006801 superoxide metabolic process
GO:0019430 removal of superoxide radicals
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005829 cytosol


-  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.
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.
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

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

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000389995.1, ENST00000389995.2, ENST00000389995.3, H7BYH4, H7BYH4_HUMAN, JA482029, uc061zmk.1
UCSC ID: ENST00000389995.4
RefSeq Accession: NM_000454
Protein: H7BYH4

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

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