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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SOD1 Gene

protein-coding   GIFtS: 82
GCID: GC21P033031

Superoxide Dismutase 1, Soluble

(Previous name: amyotrophic lateral sclerosis 1 (adult))
(Previous symbols: ALS, ALS1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Superoxide Dismutase 1, Soluble1 2     SOD2
ALS11 2 5     Cu/Zn Superoxide Dismutase2
ALS1 2     homodimer2
hSod12 3     Indophenoloxidase A2
EC 1.15.1.13 8     SOD, Soluble2
Amyotrophic Lateral Sclerosis 1 (Adult)1     Superoxide Dismutase [Cu-Zn]2
Cu,Zn Superoxide Dismutase, EC 1.15.1.111     Superoxide Dismutase, Cystolic2
IPOA2     Superoxide Dismutase 13

External Ids:    HGNC: 111791   Entrez Gene: 66472   Ensembl: ENSG000001421687   OMIM: 1474505   UniProtKB: P004413   

Export aliases for SOD1 gene to outside databases

Previous GC identifers: GC21P029609 GC21P031952 GC21P031953 GC21P018441


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SOD1 Gene:
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)

GeneCards Summary for SOD1 Gene: 
SOD1 (superoxide dismutase 1, soluble) is a protein-coding gene. Diseases associated with SOD1 include pneumoconiosis, and ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities, and among its related super-pathways are Amyotrophic lateral sclerosis (ALS) and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include chaperone binding and protein homodimerization activity. An important paralog of this gene is SOD3.

UniProtKB/Swiss-Prot: SODC_HUMAN, P00441
Function: Destroys radicals which are normally produced within the cells and which are toxic to biological systems

Gene Wiki entry for SOD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOD1 gene promoter:
         MEF-2A   p53   HFH-1   MyoD   CUTL1   aMEF-2   Pax-4a   RSRFC4   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SOD1 promoter sequence

   Search SABiosciences Chromatin IP Primers for SOD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.11
Nature(405: 311-319) cytogenetic band:   21q22.11
SOD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOD1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P033031:   GeneLoc Nature:405,311-319
Start:
33,031,935 bp from pter       18,608,676 bp from centromere
End:
33,041,244 bp from pter 18,617,893 bp from centromere
Size:
9,310 bases 9,218 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: X02317
genomic clones: pS552 pS322


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SODC_HUMAN, P00441 (See protein sequence)
Recommended Name: Superoxide dismutase [Cu-Zn]  
Size: 154 amino acids; 15936 Da
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
Subcellular location: Cytoplasm. Note=The pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and
accumulates in mitochondria
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
6/78 PDB 3D structures from and Proteopedia for SOD1 (see all 78):
1AZV (3D)        1BA9 (3D)        1DSW (3D)        1FUN (3D)        1HL4 (3D)        1HL5 (3D)    
Secondary accessions: A6NHJ0 D3DSE4 Q16669 Q16711 Q16838 Q16839 Q16840 Q6NR85

Explore the universe of human proteins at neXtProt for SOD1: NX_P00441

Explore proteomics data for SOD1 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00441

  • 4/15 DME Specific Peptides for SOD1 (P00441) (see all 15)
     AGPHFNP  INFEQKE  CGVIGIA  ACGVIGI 

    SOD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SOD1 Protein Expression
    REFSEQ proteins: NP_000445.1  
    ENSEMBL proteins: 
     ENSP00000270142   ENSP00000374645  
    Reactome Protein details: P00441
    Human Recombinant Protein Products for SOD1: 
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    Novus Biologicals SOD1 Proteins
    Novus Biologicals SOD1 Lysates
    Sino Biological Recombinant Protein for SOD1
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    ProSpec Recombinant Protein for SOD1
    Cloud-Clone Corp. Proteins for SOD1 

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA7172448
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    SOD1 for ontologies           About GeneDecksing



    SOD1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SOD1 

    Assay Products for SOD1: 
    Browse Kits and Assays available from EMD Millipore
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    Enzo Life Sciences assays for SOD1
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    Cloud-Clone Corp. CLIAs for SOD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR018152 SOD_Cu/Zn_BS
     IPR001424 SOD_Cu_Zn_dom
     IPR024134 SOD_Cu/Zn_/chaperones

    Graphical View of Domain Structure for InterPro Entry P00441

    ProtoNet protein and cluster: P00441

    1 Blocks protein domain: IPB001424 Copper/Zinc superoxide dismutase

    UniProtKB/Swiss-Prot: SODC_HUMAN, P00441
    Similarity: Belongs to the Cu-Zn superoxide dismutase family


    SOD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SODC_HUMAN, P00441
    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)

         Genatlas biochemistry entry for SOD1:
    copper/zinc superoxide dismutase 1,soluble,catabolic pathway of activated oxygen species,free radical
    detoxification,involved in the function of motor neuron,regulated by SP1,EGR1 and WT1

         Enzyme Number (IUBMB): EC 1.15.1.11 2

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004784superoxide dismutase activity IDA12551919
    GO:0005507copper ion binding IDA17008312
    GO:0005515protein binding IPI16369483
    GO:0008270zinc ion binding IDA17381088
    GO:0030346protein phosphatase 2B binding IDA17324120
         
    SOD1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SOD1:
     Cell division defect  Increased G2M DNA content  Increased number of mitotic ce 

         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Sod1):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     muscle  nervous system  reproductive system  skeleton  vision/eye 

    SOD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SOD1: Sod1tm1Dkd Sod1tm1Leb Sod1tm1Cje Sod1tm1Ysh Sod1tm1Cep

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SOD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SOD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOD1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOD1 

    miRNA
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    miRTarBase miRNAs that target SOD1:
    hsa-mir-377 (MIRT000992)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOD1
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SOD1:
    hsa-miR-33a* hsa-miR-3128 hsa-miR-206 hsa-miR-377 hsa-miR-613 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidSOD1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Validated adenovirus to knockdown SOD1 in human, mouse 
                         Customized adenovirus for overexpression of SOD1

    Clone
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    GenScript: all cDNA clones in your preferred vector: SOD1 (NM_000454)
    Sino Biological Human cDNA Clone for SOD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOD1
    Sirion Biotech Customized lentivirus for stable overexpression of SOD1 
                         Customized lentivirus expression plasmids for stable overexpression of SOD1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOD1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SOD1 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Pathogenesis of ALS
    Amyotrophic lateral sclerosis (ALS)0.31
    Pathogenesis of ALS0.31
    2Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    3Platelet activation, signaling and aggregation
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    4Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway (Cancer Cell), Pharmacodynamics0.43
    Doxorubicin Pathway, Pharmacokinetics0.43
    5Inhibitory action of Lipoxins on Superoxide production in neutrophils
    Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SOD1
        Selected targets of ESR1

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SOD1
        Pathogenesis of ALS

    1 Cell Signaling Technology (CST) Pathway for SOD1
        Neuroscience

    2 GeneGo (Thomson Reuters) Pathways for SOD1
        Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
    Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions

    5/6 BioSystems Pathways for SOD1 (see all 6)
        Oxidative Stress
    AGE/RAGE pathway
    Selenium Pathway
    Folate Metabolism
    FOXA1 transcription factor network


    4        Reactome Pathways for SOD1
        Hemostasis
    Platelet degranulation
    Platelet activation, signaling and aggregation
    Response to elevated platelet cytosolic Ca2+

    4 PharmGKB Pathways for SOD1
        Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
    Doxorubicin Pathway, Pharmacokinetics
    Oxidative Stress Regulatory Pathway (Erythrocyte)
    Platinum Pathway, Pharmacokinetics/Pharmacodynamics

    4         Kegg Pathways  (Kegg details for SOD1):
        Peroxisome
    Amyotrophic lateral sclerosis (ALS)
    Huntington's disease
    Prion diseases


    SOD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/283 Interacting proteins for SOD1 (P004411, 2, 3 ENSP000002701424) via UniProtKB, MINT, STRING, and/or I2D (see all 283)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/60 biological process terms (GO ID links to tree view) (see all 60):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity ISS--
    GO:0000302response to reactive oxygen species ----
    GO:0000303response to superoxide IDA16790527
    GO:0001541ovarian follicle development ISS--
    GO:0001819positive regulation of cytokine production IDA15544046

    SOD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SOD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOD1 (SODC)

    7 HMDB Compounds for SOD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--
    IronArmco iron (see all 19)7439-89-6--
    Manganesemanganese 7439-96-5--
    OxygenOxygen (see all 5)7782-44-7--
    Superoxidedioxidanidyl (see all 7)11062-77-4--
    ZincZinc (see all 2)7440-66-6--

    5 DrugBank Compounds for SOD1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    S-Oxy Cysteine-- --target--10592235
    Vitamin Ealpha-Tocopherol (see all 2)59-02-9enzymeinducer20153624
    CarboplatinCBDCA (see all 2)41575-94-4enzyme----
    CisplatinCDDP (see all 7)15663-27-1enzymesubstrate--
    OxaliplatinDiaminocyclohexane Oxalatoplatinum (see all 4)61825-94-3enzymesubstrate--

    10/146 Novoseek inferred chemical compound relationships for SOD1 gene (see all 146)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    superoxide 98.8 17087 11490810 (10), 2105855 (9), 11279743 (9), 11104832 (8) (see all 99)
    malondialdehyde 92 3061 16038025 (8), 15600253 (6), 1585946 (6), 10322889 (6) (see all 99)
    h2o2 89.6 966 2195028 (8), 15607903 (6), 8824885 (5), 16254550 (4) (see all 99)
    oxygen 89.4 1192 8082230 (4), 11368853 (4), 9887057 (4), 1821722 (3) (see all 99)
    zinc superoxide 89.1 132 10677867 (2), 9444365 (2), 9539776 (2), 7856748 (2) (see all 99)
    xanthine 85.5 359 2079230 (3), 1850372 (3), 16130269 (3), 9402301 (3) (see all 99)
    d-90-a 84.1 30 19703565 (4), 9817920 (2), 19596401 (2), 12710511 (2) (see all 18)
    copper 83.8 1106 12815046 (6), 16531609 (6), 8910456 (6), 8910455 (5) (see all 99)
    peroxynitrite 83.7 175 18405671 (3), 10077484 (3), 18002134 (3), 9741578 (2) (see all 99)
    ascorbic acid 83.4 827 18254110 (7), 17386139 (6), 17319275 (5), 17190187 (5) (see all 99)

    Search CenterWatch for drugs/clinical trials and news about SOD1 / SODC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SOD1 gene: 
    NM_000454.4  

    Unigene Cluster for SOD1:

    Superoxide dismutase 1, soluble
    Hs.443914  [show with all ESTs]
    Unigene Representative Sequence: BM913065
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000270142(uc002ypa.3) ENST00000389995 ENST00000476106 ENST00000470944

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK312116.1 AY049787.1 AY450286.1 BC001034.1 BT006676.1 CR450355.1 CR541742.1 EF143990.1 
    EF151142.1 X02317.1 

    24/36 DOTS entries (see all 36):

    DT.95162227  DT.75180858  DT.92476626  DT.121132391  DT.100675809  DT.100675817  DT.95162178  DT.121132402 
    DT.121132404  DT.95162205  DT.95144400  DT.40115817  DT.40207800  DT.100675819  DT.121132384  DT.121132380 
    DT.121132412  DT.455409  DT.95120090  DT.95150964  DT.95354958  DT.99926733  DT.99998692  DT.100675808 

    24/1124 AceView cDNA sequences (see all 1124):

    CA950808 AA359931 BM765205 BM982358 BM511872 BQ879887 BQ687374 BQ636791 
    BQ691098 BM672936 CA951061 BQ050566 BG025002 BI764688 BM662951 CR541742 
    AA317578 BI712555 BU159925 BF197760 CF130475 BM831226 H22482 CB107768 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SOD1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d
    SP1:                                -     -           -           -                                       
    SP2:                          -     -     -           -           -                                       
    SP3:                                      -           -           -                                       
    SP4:                                -                 -           -                                       
    SP5:                                -     -     -     -           -                                       


    ECgene alternative splicing isoforms for SOD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SOD1 expression in normal human tissues (normalized intensities)      SOD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAAGCAGA
    SOD1 Expression
    About this image


    SOD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/ventricle   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   

    See SOD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOD1

    SOURCE GeneReport for Unigene cluster: Hs.443914
        SABiosciences Expression via Pathway-Focused PCR Arrays including SOD1 (see all 14): 
              Neurogenesis in human mouse rat
              Multiple Sclerosis in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SOD1 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sod11 , 5 superoxide dismutase 1, soluble1, 5 83.77(n)1
    83.77(a)1
      16 (51.56 cM)5
    206551  NM_011434.11  NP_035564.11 
     902207425 
    chicken
    (Gallus gallus)
    Aves SOD11 superoxide dismutase 1, soluble 75.66(n)
    75.66(a)
      395938  NM_205064.1  NP_990395.1 
    lizard
    (Anolis carolinensis)
    Reptilia SOD16
    Superoxide dismutase [Cu-Zn]
    70(a)
    1 ↔ 1
    3(145662081-145667382)
    African clawed frog
    (Xenopus laevis)
    Amphibia sod1-A-prov2 Cu,Zn superoxide dismutase 80.41(n)    X51518.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sod12 superoxide dismutase 1, soluble 73.04(n)   30553  BC055516.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sod1 , 3 determination of adult life span
    copper, zinc more3
    Superoxide dismutase1
    61(a)
    (best of 2)3
    57.24(n)1
    61.84(a)1
      68A73
    392511  NM_057387.41  NP_476735.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sod-11 , 3 superoxide dismutase3
    Protein SOD-11
    56(a)
    (best of 3)3
    55.48(n)1
    57.89(a)1
      II(6972809-6973813)3
    1741411  NM_001026785.11  NP_001021956.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SOD1(YJR104C)4
    SOD11
    Cytosolic copper-zinc superoxide dismutase; some mutations more4
    Sod1p1
    56.82(n)1
    56.38(a)1
      10(623014-622550)4
    8535681, 4  NP_012638.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CSD11 Superoxide dismutase [Cu-Zn] 56.31(n)
    54.73(a)
      837405  NM_001084025.1  NP_001077494.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g06652001 hypothetical protein 59.46(n)
    60.81(a)
      4344210  NM_001067099.2  NP_001060564.1 


    ENSEMBL Gene Tree for SOD1 (if available)
    TreeFam Gene Tree for SOD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOD1 gene
    SOD32  CCS2  
    2 SIMAP similar genes for SOD1 using alignment to 4 protein entries:     SODC_HUMAN (see all proteins):
    CCS    SOD3

    SOD1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for SOD1
    PGOHUM00000249130 PGOHUM00000243200 PGOHUM00000249501


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/403 SNPs in SOD1 are shown (see all 403)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0087224
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0087222 D V mis40--------
    VAR_0168744
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0168742 H A mis40--------
    VAR_0071394
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0071392 G D mis40--------
    VAR_0071614
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0071612 V G mis40--------
    VAR_0135374
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0135372 I M mis40--------
    VAR_0458804
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0458802 V A mis40--------
    VAR_0135194
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0135192 L Q mis40--------
    VAR_0087174
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0087172 C F mis40--------
    VAR_0458854
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0458852 G R mis40--------
    VAR_0071624
    Amyotrophic lateral sclerosis 1 (ALS1)4--see VAR_0071622 V I mis40--------

    HapMap Linkage Disequilibrium report for SOD1 (33031935 - 33041244 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SOD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834079CNV Loss17160897
    nsv519899CNV Gain19592680


    Human Gene Mutation Database (HGMD): SOD1

    Locus Specific Mutation Databases (LSDB): SOD1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SOD1
    DNA2.0 Custom Variant and Variant Library Synthesis for SOD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147450   
    OMIM disorders: 105400  
    UniProtKB/Swiss-Prot: SODC_HUMAN, P00441
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/376 diseases for SOD1 (see all 376):    About MalaCards
    pneumoconiosis    ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities    postcholecystectomy syndrome    absence of septum pellucidum
    amyotrophic lateral sclerosis, due to sod1 deficiency    sod1-related amyotrophic lateral sclerosis    motor neuron disease    eales disease
    brain malformations    amyotrophic lateral sclerosis    tonsillitis    brain edema
    mild pre-eclampsia    paraquat poisoning    kennedy's disease    biliary dyskinesia
    lateral sclerosis    peyronie's disease    peyronies disease    pneumothorax

    1 disease from the University of Copenhagen DISEASES database for SOD1:
    Amyotrophic lateral sclerosis

    SOD1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 Novoseek inferred disease relationships for SOD1 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amyotrophic lateral sclerosis 93.6 1062 11068853 (3), 9240414 (3), 8610185 (3), 18378676 (3) (see all 99)
    motor neuron disease 76.3 71 8921896 (2), 7673954 (1), 8959994 (1), 9382875 (1) (see all 49)
    neurodegenerative diseases 72.2 103 1984240 (3), 19436494 (3), 14651952 (2), 7931417 (1) (see all 74)
    neurodegeneration 69.9 102 11304046 (2), 11905995 (2), 15626539 (2), 8786380 (2) (see all 72)
    cell damage 68.5 32 2383915 (2), 8034601 (2), 1958348 (1), 9789773 (1) (see all 21)
    familial motor neuron disease 65.4 8 9106116 (1), 18210783 (1), 9726962 (1), 11467047 (1) (see all 7)
    septo-optic dysplasia 64 26 12435890 (2), 12503860 (1), 12777591 (1), 18231810 (1) (see all 23)
    neuron loss 56.1 12 19333801 (1), 9670993 (1), 9633809 (1), 11011020 (1) (see all 10)
    down syndrome 54 128 2144256 (5), 11399108 (4), 11903959 (3), 8841514 (3) (see all 63)
    ischemia 50.7 131 16678801 (5), 8369736 (4), 9232283 (3), 7798339 (3) (see all 72)

    GeneTests: SOD1
    GeneReviews: SOD1
    Genetic Association Database (GAD): SOD1
    Human Genome Epidemiology (HuGE) Navigator: SOD1 (95 documents)

    Export disorders for SOD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SOD1 gene, integrated from 9 sources (see all 5090):
    (articles sorted by number of sources associating them with SOD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. (PubMed id 8446170)1, 2, 3, 4 Rosen D.R.... Brown R.H. Jr. (1993)
    2. A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. (PubMed id 8907321)1, 2, 4, 9 Morita M.... Itoyama Y. (1996)
    3. Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1? (PubMed id 16674979)1, 4, 9 Gamez J....Alvarez-Sabin J. (2006)
    4. Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis. (PubMed id 18552350)1, 2, 9 Furukawa Y.... Nukina N. (2008)
    5. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. (PubMed id 14506936)1, 2, 9 Andersen P.M.... Brown R.H. Jr. (2003)
    6. Structural characterization of zinc-deficient human superoxide dismutase and implications for ALS. (PubMed id 17888947)1, 2, 9 Roberts B.R....Beckman J.S. (2007)
    7. Lack of association of polymorphisms 239+34A/C in the SOD1 gene and 47C/T in the SOD2 gene with delayed graft function and acute and chronic rejection of kidney allografts. (PubMed id 19917371)1, 4, 9 Dutkiewicz G....Ciechanowski K. (2009)
    8. Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus. (PubMed id 18423055)1, 4, 9 Flekac M....Jarolimkova M. (2008)
    9. Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Genetics study. (PubMed id 17914031)1, 4, 9 Al-Kateb H....Paterson A.D. (2008)
    10. Human SOD1 before harboring the catalytic metal: solution structure of copper-depleted, disulfide-reduced form. (PubMed id 16291742)1, 2, 9 Banci L....Gaggelli E. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6647 HGNC: 11179 AceView: SOD1 Ensembl:ENSG00000142168 euGenes: HUgn6647
    ECgene: SOD1 Kegg: 6647 H-InvDB: SOD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SOD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SOD1 Genetics and Cytogenetics in Oncology and Haematology
    Alsodhttp://alsod.iop.kcl.ac.uk/Als/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOD1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/sod1/
    Wikipedia http://en.wikipedia.org/wiki/Superoxide_dismutase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SOD1 gene:
    Search GeneIP for patents involving SOD1

    Licensable Technologies for SOD1 gene:
    Weizmann Institute:Thiram as a Novel Anti-angiogenic and Anti-inflammatory Factor
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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