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SOD1 Gene

protein-coding   GIFtS: 82
GCID: GC21P033031

Superoxide Dismutase 1, Soluble

(Previous name: amyotrophic lateral sclerosis 1 (adult))
(Previous symbols: ALS, ALS1)
  See SOD1-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Superoxide Dismutase 1, Soluble1 2     SOD2
ALS11 2 5     Cu/Zn Superoxide Dismutase2
ALS1 2     Epididymis Secretory Protein Li 442
hSod12 3     homodimer2
EC 1.15.1.13 8     Indophenoloxidase A2
Amyotrophic Lateral Sclerosis 1 (Adult)1     SOD, Soluble2
Cu,Zn Superoxide Dismutase, EC 1.15.1.111     Superoxide Dismutase [Cu-Zn]2
HEL-S-442     Superoxide Dismutase, Cystolic2
IPOA2     Superoxide Dismutase 13

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

Export aliases for SOD1 gene to outside databases

Previous GC identifers: GC21P029609 GC21P031952 GC21P031953 GC21P018441


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 amyotrophic lateral sclerosis. GO annotations related to this gene include copper ion 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   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 Chromatin IP Primers for SOD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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
Selected PDB 3D structures from and Proteopedia for SOD1 (see all 82):
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: 

  • 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 degradation1
  • 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 required1
  • Palmitoylation helps nuclear targeting and decreases catalytic activity1
  • Succinylation, adjacent to copper catalytic site probably inhibit activity. Desuccinylated by SIRT5, enhancing
    activity1
  • Ubiquitination2 at Lys10, Lys31, Lys123
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SOD1 (P00441) (see all 15)
     AGPHFNP  INFEQKE  CGVIGIA  ACGVIGI 


    See SOD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000445.1  
    ENSEMBL proteins: 
     ENSP00000270142   ENSP00000374645  
    Reactome Protein details: P00441

    SOD1 Human Recombinant Protein Products:

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    antibodies-online proteins for SOD1 (107 products) 

     
    antibodies-online peptides for SOD1

    SOD1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOD1
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    antibodies-online antibodies for SOD1 (290 products) 

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    Cloud-Clone Corp. CLIAs for SOD1
    eBioscience ELISAs for SOD1: (see all 3
                        Human Cu/ZnSOD Platinum ELISA 96 tests
    antibodies-online kits for SOD1 (46 products) 


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

    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


    Find genes that share domains with SOD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004784superoxide dismutase activity TAS--
    GO:0005507copper ion binding IDA17008312
    GO:0005515protein binding IPI16369483
    GO:0008270zinc ion binding IDA17381088
    GO:0030346protein phosphatase 2B binding IDA17324120
         
    Find genes that share ontologies with SOD1           About GenesLikeMe


    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 6 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 

    Find genes that share phenotypes with SOD1           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for SOD1

    miRNA
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    miRTarBase miRNAs that target SOD1:
    hsa-mir-197-3p (MIRT048056), hsa-mir-377-3p (MIRT000992), hsa-mir-378a-3p (MIRT043913)

    Block miRNA regulation of human, mouse, rat SOD1 using miScript Target Protectors
    6 qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for SOD1
    Predesigned siRNA for gene silencing in human, mouse, rat SOD1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SOD1 (NM_000454)
    Sino Biological Human cDNA Clone for SOD1
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    Addgene plasmids for SOD1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SODC_HUMAN, P00441: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic; the pathogenic variants ALS1 Arg-86 and
    Ala-94 gradually aggregates and accumulates in mitochondria
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    extracellular5
    mitochondrion5
    nucleus5
    peroxisome5
    cytoskeleton1
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 17):    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--

    Find genes that share ontologies with SOD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SOD1 About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Pathogenesis of ALS0.31
    Amyotrophic lateral sclerosis (ALS)0.63
    2Detoxification of Reactive Oxygen Species
    Detoxification of Reactive Oxygen Species
    Oxidative Stress Regulatory Pathway (Erythrocyte)0.00
    3Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    4Folate Metabolism
    Folate Metabolism0.54
    Vitamin B12 Metabolism0.54
    5Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43


    Find genes that share SuperPaths with SOD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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

    Selected BioSystems Pathways for SOD1 (see all 9)
        Oxidative Stress
    AGE/RAGE pathway
    Amyotrophic lateral sclerosis (ALS)
    Selenium Pathway
    Folate Metabolism


    2 Reactome Pathways for SOD1
        Detoxification of Reactive Oxygen Species
    Platelet degranulation

    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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for SOD1

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

    Selected Interacting proteins for SOD1 (P004411, 2, 3 ENSP000002701424) via UniProtKB, MINT, STRING, and/or I2D (see all 410)
    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): Selected biological process terms (see all 61):    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

    Find genes that share ontologies with SOD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with SOD1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

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    SwitchGear 3'UTR luciferase reporter plasmidSOD1 3' UTR sequence
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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 

    Selected 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 

    Selected AceView cDNA sequences (see all 1124):

    CK004819 BQ422342 BM511872 BU728057 BQ446061 CA848162 BU163637 CB136730 
    BM916789 BU683676 N32576 BP343746 BG924488 CB161951 NM_000454 BM984310 
    AI769001 AW889261 BU166409 BU733151 BM694855 BF026147 CB162339 BM543026 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SOD1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Kidney (Urinary System)
             Metanephros
    SOD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443914
        Pathway & Disease-focused RT2 Profiler 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOD1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SOD1 gene from Selected species (see all 25)    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 1, soluble
    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 superoxide dismutase less3
    Superoxide dismutase1
    61(a)
    (best of 2)3
    55.84(n)1
    61.04(a)1
      68A73
    392511  NM_001274771.11  NP_001261700.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sod-11 , 3 superoxide dismutase3
    sod-11
    56(a)
    (best of 3)3
    55.26(n)1
    57.89(a)1
      II(6972809-6973813)3
    1741411  NM_001026785.21  NP_001021956.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SOD1(YJR104C)4
    SOD11
    Cytosolic copper-zinc superoxide dismutase; some mutations are analogous to those that cause ALS (amyotrophic lateral sclerosis) in humans less4
    SOD11
    57.05(n)1
    56.38(a)1
      10(623014-622550)4
    8535681, 4  NP_012638.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CSD11 CSD1 56.31(n)
    54.73(a)
      837405  NM_001084025.1  NP_001077494.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g06652001 Os07g0665200 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)
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    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

    Find genes that share paralogs with SOD1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SOD1 (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
    ----------
    rs802659671,2,,4
    C,FAmyotrophic lateral sclerosis 1 (ALS1)4 pathogenic123583762(+) TGCTGA/CCAAAG 2 D A mis12Minor allele frequency- C:0.00NA 4668
    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--------

    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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for SOD1 (see all 50):    
    About MalaCards
    pneumoconiosis    amyotrophic lateral sclerosis    ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities    sod1-related amyotrophic lateral sclerosis
    postcholecystectomy syndrome    tonsillitis    kennedy's disease    eales disease
    motor neuron disease    paraquat poisoning    meningitis and encephalitis    brain edema
    mild pre-eclampsia    peyronie's disease    biliary dyskinesia    spinal cord injury
    lateral sclerosis    amyotrophic lateral sclerosis with frontotemporal dementia    congenital methemoglobinemia    gnathodiaphyseal dysplasia

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

    Find genes that share disorders with SOD1           About GenesLikeMe

    Selected 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)
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    PubMed articles for SOD1 gene, integrated from 10 sources (see all 5121):
    (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. (Nature 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. (Neurosci. Lett. 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-SabA-n J. (J. Neurol. Sci. 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. (J. Biol. Chem. 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. (Amyotroph. Lateral Scler. 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. (J. Mol. Biol. 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. (Transplant. Proc. 2009)
    8. Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus. (PubMed id 18423055)1, 4, 9 Flekac M....Jarolimkova M. (BMC Med. Genet. 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. (Diabetes 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. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6647 HGNC: 11179 AceView: SOD1 Ensembl:ENSG00000142168 euGenes: HUgn6647
    ECgene: SOD1 Kegg: 6647 H-InvDB: SOD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=SOD1[genesymbol]
    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.)
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    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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