Details for: SOD1

Gene ID: 6647

Symbol: SOD1

Ensembl ID: ENSG00000142168

Description: superoxide dismutase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 602.3329
    Cell Significance Index: -93.6900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 392.8744
    Cell Significance Index: -99.6500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 322.2315
    Cell Significance Index: -132.7400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 291.8657
    Cell Significance Index: -118.5700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 281.9818
    Cell Significance Index: -133.1300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 257.5307
    Cell Significance Index: -132.4700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 198.9502
    Cell Significance Index: -133.5000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 124.7037
    Cell Significance Index: -119.0600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 92.0714
    Cell Significance Index: -113.5200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 34.1557
    Cell Significance Index: -134.7800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 30.7108
    Cell Significance Index: -82.2700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 30.3602
    Cell Significance Index: -93.2500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 19.1950
    Cell Significance Index: -42.0100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 8.0945
    Cell Significance Index: 424.9900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 5.2265
    Cell Significance Index: 142.2600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 3.5692
    Cell Significance Index: 438.8700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.5658
    Cell Significance Index: 1947.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.5393
    Cell Significance Index: 486.0400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 3.3451
    Cell Significance Index: 25.2600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 3.2866
    Cell Significance Index: 86.4200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 3.2055
    Cell Significance Index: 577.8600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 3.0945
    Cell Significance Index: 396.7000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.9852
    Cell Significance Index: 140.3000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.9085
    Cell Significance Index: 216.7700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.4352
    Cell Significance Index: 287.1900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 2.2864
    Cell Significance Index: 79.4500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 2.2853
    Cell Significance Index: 1010.3700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 2.2794
    Cell Significance Index: 161.2100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 2.2341
    Cell Significance Index: 17.2200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.1263
    Cell Significance Index: 19.5800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.0910
    Cell Significance Index: 61.4100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.9243
    Cell Significance Index: 55.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.7109
    Cell Significance Index: 221.0300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.3811
    Cell Significance Index: 15.6900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.3297
    Cell Significance Index: 30.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2777
    Cell Significance Index: 126.3900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.2209
    Cell Significance Index: 25.5600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.1878
    Cell Significance Index: 20.9900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0994
    Cell Significance Index: 220.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9767
    Cell Significance Index: 45.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9317
    Cell Significance Index: 184.9000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.9106
    Cell Significance Index: 24.3200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8118
    Cell Significance Index: 52.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6665
    Cell Significance Index: 34.6300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.5860
    Cell Significance Index: 7.5100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.4945
    Cell Significance Index: 362.5300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4295
    Cell Significance Index: 29.7000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3678
    Cell Significance Index: 131.9300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2543
    Cell Significance Index: 48.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.2538
    Cell Significance Index: 20.1000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2496
    Cell Significance Index: 11.3200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2124
    Cell Significance Index: 36.2600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2080
    Cell Significance Index: 7.3100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1356
    Cell Significance Index: 102.6100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1343
    Cell Significance Index: 1.4600
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.1089
    Cell Significance Index: 0.6400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0724
    Cell Significance Index: 4.5600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0654
    Cell Significance Index: 1.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0233
    Cell Significance Index: -43.8800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0385
    Cell Significance Index: -70.9500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0431
    Cell Significance Index: -31.8900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0517
    Cell Significance Index: -79.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0695
    Cell Significance Index: -7.1000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0811
    Cell Significance Index: -51.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0913
    Cell Significance Index: -124.1100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0986
    Cell Significance Index: -61.5800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1161
    Cell Significance Index: -6.9700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1495
    Cell Significance Index: -84.3100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.2224
    Cell Significance Index: -100.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2489
    Cell Significance Index: -52.4300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.3058
    Cell Significance Index: -49.7400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3239
    Cell Significance Index: -37.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3844
    Cell Significance Index: -23.6300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3918
    Cell Significance Index: -112.7200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4620
    Cell Significance Index: -12.3800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.5548
    Cell Significance Index: -4.4300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6240
    Cell Significance Index: -15.9400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6597
    Cell Significance Index: -21.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.6740
    Cell Significance Index: -97.9800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.7609
    Cell Significance Index: -88.6700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.7678
    Cell Significance Index: -87.6400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.7944
    Cell Significance Index: -17.2100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -1.0076
    Cell Significance Index: -28.1600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.2673
    Cell Significance Index: -66.0100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.2713
    Cell Significance Index: -132.3700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.3002
    Cell Significance Index: -34.7800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -1.3363
    Cell Significance Index: -102.5500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.3470
    Cell Significance Index: -90.5700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.4210
    Cell Significance Index: -35.5200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.5515
    Cell Significance Index: -87.0600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -1.6915
    Cell Significance Index: -10.4100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.8304
    Cell Significance Index: -112.2200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -1.8656
    Cell Significance Index: -32.1600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -2.1552
    Cell Significance Index: -45.9000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -2.1798
    Cell Significance Index: -18.3100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -2.2042
    Cell Significance Index: -26.2800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -2.2560
    Cell Significance Index: -30.7800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -2.4860
    Cell Significance Index: -37.2500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -2.4996
    Cell Significance Index: -73.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -2.5511
    Cell Significance Index: -112.8400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Antioxidant function:** SOD1 is a key enzyme in the detoxification of ROS, particularly superoxide, which is generated as a byproduct of mitochondrial electron transport and other cellular processes. 2. **Subcellular localization:** SOD1 is predominantly found in the cytosol and mitochondria, where it can interact with other cellular components and influence signaling pathways. 3. **Cell-type specific expression:** SOD1 is expressed in a wide range of cell types, including neurons, immune cells, epithelial cells, and fibroblasts, highlighting its importance in various cellular processes. 4. **Regulatory mechanisms:** SOD1 activity is regulated by various mechanisms, including post-translational modifications, protein-protein interactions, and gene expression. **Pathways and Functions:** 1. **Antioxidant defense:** SOD1 plays a critical role in maintaining cellular antioxidant defenses by neutralizing ROS and preventing oxidative damage to cellular components. 2. **Cell signaling:** SOD1 interacts with other signaling molecules, influencing pathways involved in cell growth, differentiation, and survival. 3. **Apoptosis regulation:** SOD1 can modulate apoptotic processes, either promoting or inhibiting cell death depending on the cellular context. 4. **Stress responses:** SOD1 is involved in the regulation of stress responses, including heat shock, oxidative stress, and endoplasmic reticulum stress. 5. **Neuroprotection:** SOD1 has been implicated in neuroprotection, with potential therapeutic implications for neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS). 6. **Immune system regulation:** SOD1 plays a role in regulating immune responses, including the production of cytokines and the activation of immune cells. **Clinical Significance:** 1. **Neurodegenerative diseases:** Mutations in the SOD1 gene have been associated with neurodegenerative diseases, including ALS and frontotemporal dementia. 2. **Cancer:** SOD1 has been implicated in cancer development and progression, with potential therapeutic applications in cancer treatment. 3. **Inflammatory disorders:** SOD1 may play a role in the regulation of inflammatory responses, with implications for the treatment of inflammatory disorders. 4. **Cardiovascular disease:** SOD1 has been linked to cardiovascular disease, with potential therapeutic applications in the prevention and treatment of cardiovascular disease. In conclusion, SOD1 is a multifaceted enzyme that plays a critical role in maintaining cellular homeostasis and regulating various cellular processes. Further research is needed to fully elucidate the functions of SOD1 and its potential therapeutic applications in various diseases.

Genular Protein ID: 2065238907

Symbol: SODC_HUMAN

Name: Superoxide dismutase 1

UniProtKB Accession Codes:

P00441 A6NHJ0 D3DSE4 Q16669 Q16711 Q16838 Q16839 Q16840 Q6NR85

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 CarbonylDB 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 21 DrugCentral 1 EC 1 EMBL 30 EMDB 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 76 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 6577438

Title: Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA.

PubMed ID: 6577438

DOI: 10.1073/pnas.80.18.5465

PubMed ID: 3160582

Title: Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase.

PubMed ID: 3160582

DOI: 10.1002/j.1460-2075.1985.tb02320.x

PubMed ID: 3889846

Title: Human Cu/Zn superoxide dismutase cDNA: isolation of clones synthesising high levels of active or inactive enzyme from an expression library.

PubMed ID: 3889846

DOI: 10.1093/nar/13.6.2017

PubMed ID: 2853161

Title: Comparison of properties between human recombinant and placental copper-zinc SOD.

PubMed ID: 2853161

DOI: 10.1093/oxfordjournals.jbchem.a122562

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6770891

Title: Some sulfhydryl properties and primary structure of human erythrocyte superoxide dismutase.

PubMed ID: 6770891

DOI: 10.1021/bi00552a005

PubMed ID: 7002610

Title: The complete amino acid sequence of human Cu/Zn superoxide dismutase.

PubMed ID: 7002610

DOI: 10.1016/0014-5793(80)81044-1

PubMed ID: 8528216

Title: Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.

PubMed ID: 8528216

DOI: 10.1093/hmg/4.7.1239

PubMed ID: 8682505

Title: Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.

PubMed ID: 8682505

DOI: 10.1007/s004390050157

PubMed ID: 15326189

Title: The unusually stable quaternary structure of human Cu,Zn-superoxide dismutase 1 is controlled by both metal occupancy and disulfide status.

PubMed ID: 15326189

DOI: 10.1074/jbc.m406021200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20600836

Title: A ditryptophan cross-link is responsible for the covalent dimerization of human superoxide dismutase 1 during its bicarbonate-dependent peroxidase activity.

PubMed ID: 20600836

DOI: 10.1016/j.freeradbiomed.2010.06.018

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22496122

Title: Endothelial cell palmitoylproteomic identifies novel lipid-modified targets and potential substrates for protein acyl transferases.

PubMed ID: 22496122

DOI: 10.1161/circresaha.112.269514

PubMed ID: 22905912

Title: Resveratrol-induced changes of the human adipocyte secretion profile.

PubMed ID: 22905912

DOI: 10.1021/pr300539b

PubMed ID: 24140062

Title: SIRT5 desuccinylates and activates SOD1 to eliminate ROS.

PubMed ID: 24140062

DOI: 10.1016/j.bbrc.2013.10.033

PubMed ID: 23625804

Title: Mechanistic aspects of hSOD1 maturation from the solution structure of Cu(I) -loaded hCCS domain 1 and analysis of disulfide-free hSOD1 mutants.

PubMed ID: 23625804

DOI: 10.1002/cbic.201300042

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30037290

Title: pLG72 induces superoxide radicals via interaction and aggregation with SOD1.

PubMed ID: 30037290

DOI: 10.1080/10715762.2018.1504293

PubMed ID: 31292775

Title: Copper-zinc superoxide dismutase (Sod1) activation terminates interaction between its copper chaperone (Ccs) and the cytosolic metal-binding domain of the copper importer Ctr1.

PubMed ID: 31292775

DOI: 10.1007/s10534-019-00206-3

PubMed ID: 31332433

Title: SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

PubMed ID: 31332433

DOI: 10.1093/brain/awz182

PubMed ID: 31314961

Title: Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

PubMed ID: 31314961

DOI: 10.1056/nejmc1905039

PubMed ID: 1463506

Title: Atomic structures of wild-type and thermostable mutant recombinant human Cu,Zn superoxide dismutase.

PubMed ID: 1463506

DOI: 10.1073/pnas.89.13.6109

PubMed ID: 9541385

Title: Subunit asymmetry in the three-dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosis.

PubMed ID: 9541385

DOI: 10.1002/pro.5560070302

PubMed ID: 9718300

Title: Solution structure of reduced monomeric Q133M2 copper, zinc superoxide dismutase (SOD). Why is SOD a dimeric enzyme?

PubMed ID: 9718300

DOI: 10.1021/bi9803473

PubMed ID: 10329151

Title: The crystal structure of the monomeric human SOD mutant F50E/G51E/E133Q at atomic resolution. The enzyme mechanism revisited.

PubMed ID: 10329151

DOI: 10.1006/jmbi.1999.2681

PubMed ID: 12911296

Title: Solution structure of Apo Cu,Zn superoxide dismutase: role of metal ions in protein folding.

PubMed ID: 12911296

DOI: 10.1021/bi034324m

PubMed ID: 12963370

Title: ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.

PubMed ID: 12963370

DOI: 10.1016/s0022-2836(03)00889-1

PubMed ID: 12754496

Title: Amyloid-like filaments and water-filled nanotubes formed by SOD1 mutant proteins linked to familial ALS.

PubMed ID: 12754496

DOI: 10.1038/nsb935

PubMed ID: 15056757

Title: Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.

PubMed ID: 15056757

DOI: 10.1073/pnas.0305143101

PubMed ID: 16291742

Title: Human SOD1 before harboring the catalytic metal: solution structure of copper-depleted, disulfide-reduced form.

PubMed ID: 16291742

DOI: 10.1074/jbc.m506497200

PubMed ID: 16406071

Title: Variable metallation of human superoxide dismutase: atomic resolution crystal structures of Cu-Zn, Zn-Zn and as-isolated wild-type enzymes.

PubMed ID: 16406071

DOI: 10.1016/j.jmb.2005.11.081

PubMed ID: 17070542

Title: The coupling between disulphide status, metallation and dimer interface strength in Cu/Zn superoxide dismutase.

PubMed ID: 17070542

DOI: 10.1016/j.jmb.2006.09.048

PubMed ID: 17888947

Title: Structural characterization of zinc-deficient human superoxide dismutase and implications for ALS.

PubMed ID: 17888947

DOI: 10.1016/j.jmb.2007.07.043

PubMed ID: 17548825

Title: Molecular dynamics using atomic-resolution structure reveal structural fluctuations that may lead to polymerization of human Cu-Zn superoxide dismutase.

PubMed ID: 17548825

DOI: 10.1073/pnas.0703857104

PubMed ID: 18378676

Title: Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.

PubMed ID: 18378676

DOI: 10.1074/jbc.m801522200

PubMed ID: 8592323

Title: Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments.

PubMed ID: 8592323

DOI: 10.1136/jmg.32.11.841

PubMed ID: 20727846

Title: Structures of mouse SOD1 and human/mouse SOD1 chimeras.

PubMed ID: 20727846

DOI: 10.1016/j.abb.2010.08.014

PubMed ID: 8446170

Title: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

PubMed ID: 8446170

DOI: 10.1038/362059a0

PubMed ID: 8332197

Title:

PubMed ID: 8332197

DOI: 10.1038/364362c0

PubMed ID: 8351519

Title: Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.

PubMed ID: 8351519

DOI: 10.1126/science.8351519

PubMed ID: 8179602

Title: A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis.

PubMed ID: 8179602

DOI: 10.1006/bbrc.1994.1506

PubMed ID: 7980516

Title: A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis.

PubMed ID: 7980516

DOI: 10.1006/bbrc.1994.2497

PubMed ID: 8069312

Title: Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.

PubMed ID: 8069312

DOI: 10.1093/hmg/3.4.649

PubMed ID: 7951252

Title: Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.

PubMed ID: 7951252

DOI: 10.1093/hmg/3.6.997

PubMed ID: 7881433

Title: Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.

PubMed ID: 7881433

DOI: 10.1093/hmg/3.12.2261

PubMed ID: 7836951

Title: Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.

PubMed ID: 7836951

DOI: 10.1016/0022-510x(94)90097-3

PubMed ID: 7997024

Title: 'Sporadic' motoneuron disease due to familial SOD1 mutation with low penetrance.

PubMed ID: 7997024

DOI: 10.1016/s0140-6736(94)92913-0

PubMed ID: 7870076

Title: Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.

PubMed ID: 7870076

DOI: 10.1006/mcpr.1994.1046

PubMed ID: 7887412

Title: Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

PubMed ID: 7887412

PubMed ID: 7795609

Title: A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.

PubMed ID: 7795609

DOI: 10.1093/hmg/4.3.491

PubMed ID: 7655468

Title: An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.

PubMed ID: 7655468

DOI: 10.1093/hmg/4.6.1101

PubMed ID: 7655469

Title: The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland.

PubMed ID: 7655469

DOI: 10.1093/hmg/4.6.1105

PubMed ID: 7655471

Title: Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.

PubMed ID: 7655471

DOI: 10.1093/hmg/4.6.1113

PubMed ID: 7700376

Title: A novel SOD mutant and ALS.

PubMed ID: 7700376

DOI: 10.1038/374504a0

PubMed ID: 7647793

Title: Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.

PubMed ID: 7647793

DOI: 10.1038/ng0595-61

PubMed ID: 7501156

Title: Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene.

PubMed ID: 7501156

DOI: 10.1212/wnl.45.11.2038

PubMed ID: 7496169

Title: Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.

PubMed ID: 7496169

DOI: 10.1016/0960-8966(95)00007-a

PubMed ID: 8875253

Title: Genetics of amyotrophic lateral sclerosis.

PubMed ID: 8875253

DOI: 10.1093/hmg/5.supplement_1.1465

PubMed ID: 8938700

Title: Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.

PubMed ID: 8938700

DOI: 10.1016/0960-8966(96)00353-7

PubMed ID: 8907321

Title: A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.

PubMed ID: 8907321

DOI: 10.1016/0304-3940(96)12378-8

PubMed ID: 9365366

Title: Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.

PubMed ID: 9365366

DOI: 10.1093/brain/120.10.1723

PubMed ID: 24283821

Title: A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

PubMed ID: 24283821

DOI: 10.1111/j.1468-1331.1997.tb00298.x

PubMed ID: 8990014

Title: A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease.

PubMed ID: 8990014

DOI: 10.1002/(sici)1098-1004(1997)9:1<69::aid-humu14>3.0.co;2-n

PubMed ID: 9101297

Title: Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.

PubMed ID: 9101297

DOI: 10.1002/(sici)1098-1004(1997)9:4<356::aid-humu9>3.0.co;2-3

PubMed ID: 9455977

Title: Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).

PubMed ID: 9455977

DOI: 10.1016/s0022-510x(97)00181-0

PubMed ID: 10732812

Title: A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan.

PubMed ID: 10732812

DOI: 10.1007/s100480050016

PubMed ID: 9131652

Title: A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.

PubMed ID: 9131652

DOI: 10.1016/s0960-8966(96)00419-1

PubMed ID: 9706719

Title: Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis.

PubMed ID: 9706719

DOI: 10.1017/s0317167100034004

Title: A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS.

DOI: 10.1046/j.1468-1331.1998.540389.x

PubMed ID: 9696308

Title: Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry.

PubMed ID: 9696308

DOI: 10.1016/s0165-0270(98)00012-0

PubMed ID: 10400992

Title: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.

PubMed ID: 10400992

DOI: 10.1093/hmg/8.8.1451

PubMed ID: 10430435

Title: A SOD1 gene mutation in a patient with slowly progressing familial ALS.

PubMed ID: 10430435

DOI: 10.1212/wnl.53.2.404

PubMed ID: 11535232

Title: A novel SOD1 gene mutation in familial ALS with low penetrance in females.

PubMed ID: 11535232

DOI: 10.1016/s0022-510x(01)00558-5

PubMed ID: 11369193

Title: Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.

PubMed ID: 11369193

DOI: 10.1016/s0960-8966(00)00215-7

PubMed ID: 12402272

Title: 'True' sporadic ALS associated with a novel SOD-1 mutation.

PubMed ID: 12402272

DOI: 10.1002/ana.10369

PubMed ID: 12145308

Title: Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity.

PubMed ID: 12145308

DOI: 10.1074/jbc.m206559200

PubMed ID: 12210393

Title: Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis.

PubMed ID: 12210393

DOI: 10.1002/mus.10193

PubMed ID: 14506936

Title: Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

PubMed ID: 14506936

DOI: 10.1080/14660820310011700

PubMed ID: 18552350

Title: Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis.

PubMed ID: 18552350

DOI: 10.1074/jbc.m802083200

PubMed ID: 18301754

Title: SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization.

PubMed ID: 18301754

DOI: 10.1371/journal.pone.0001677

PubMed ID: 19741096

Title: Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.

PubMed ID: 19741096

DOI: 10.1091/mbc.e09-02-0112

PubMed ID: 20460594

Title: Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

PubMed ID: 20460594

DOI: 10.1136/jnnp.2009.192310

PubMed ID: 21247266

Title: A novel L67P SOD1 mutation in an Italian ALS patient.

PubMed ID: 21247266

DOI: 10.3109/17482968.2011.551939

PubMed ID: 21220647

Title: Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

PubMed ID: 21220647

DOI: 10.1001/archneurol.2010.352

PubMed ID: 27604643

Title: Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.

PubMed ID: 27604643

DOI: 10.1038/srep32478

PubMed ID: 31086828

Title: Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation.

PubMed ID: 31086828

DOI: 10.1212/nxg.0000000000000335

Sequence Information:

  • Length: 154
  • Mass: 15936
  • Checksum: 25CA38DA8D564483
  • Sequence:
    • MATKAVCVLK GDGPVQGIIN FEQKESNGPV KVWGSIKGLT EGLHGFHVHE FGDNTAGCTS 
AGPHFNPLSR KHGGPKDEER HVGDLGNVTA DKDGVADVSI EDSVISLSGD HCIIGRTLVV 
HEKADDLGKG GNEESTKTGN AGSRLACGVI GIAQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.