Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SOD1 (superoxide dismutase 1)

Identity

Alias_namesALS
ALS1
amyotrophic lateral sclerosis 1 (adult)
Alias_symbol (synonym)IPOA
Other aliasHEL-S-44
SOD
hSod1
homodimer
HGNC (Hugo) SOD1
LocusID (NCBI) 6647
Atlas_Id 42352
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 31659622 and ends at 31668930 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GPA33 (1q24.1) / SOD1 (21q22.11)SOD1 (21q22.11) / CXCL9 (4q21.1)SOD1 (21q22.11) / NAP1L4 (11p15.4)
SOD1 (21q22.11) / TAGLN2 (1q23.2)USP3 (15q22.31) / SOD1 (21q22.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SOD1   11179
LRG (Locus Reference Genomic)LRG_652
Cards
Entrez_Gene (NCBI)SOD1  6647  superoxide dismutase 1
AliasesALS; ALS1; HEL-S-44; IPOA; 
SOD; hSod1; homodimer
GeneCards (Weizmann)SOD1
Ensembl hg19 (Hinxton)ENSG00000142168 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000142168 [Gene_View]  chr21:31659622-31668930 [Contig_View]  SOD1 [Vega]
ICGC DataPortalENSG00000142168
TCGA cBioPortalSOD1
AceView (NCBI)SOD1
Genatlas (Paris)SOD1
WikiGenes6647
SOURCE (Princeton)SOD1
Genetics Home Reference (NIH)SOD1
Genomic and cartography
GoldenPath hg38 (UCSC)SOD1  -     chr21:31659622-31668930 +  21q22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SOD1  -     21q22.11   [Description]    (hg19-Feb_2009)
EnsemblSOD1 - 21q22.11 [CytoView hg19]  SOD1 - 21q22.11 [CytoView hg38]
Mapping of homologs : NCBISOD1 [Mapview hg19]  SOD1 [Mapview hg38]
OMIM105400   147450   
Gene and transcription
Genbank (Entrez)AK312116 AV756797 AY049787 AY450286 BC001034
RefSeq transcript (Entrez)NM_000454
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SOD1
Cluster EST : UnigeneHs.443914 [ NCBI ]
CGAP (NCI)Hs.443914
Alternative Splicing GalleryENSG00000142168
Gene ExpressionSOD1 [ NCBI-GEO ]   SOD1 [ EBI - ARRAY_EXPRESS ]   SOD1 [ SEEK ]   SOD1 [ MEM ]
Gene Expression Viewer (FireBrowse)SOD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6647
GTEX Portal (Tissue expression)SOD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00441   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00441  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00441
Splice isoforms : SwissVarP00441
Catalytic activity : Enzyme1.15.1.1 [ Enzyme-Expasy ]   1.15.1.11.15.1.1 [ IntEnz-EBI ]   1.15.1.1 [ BRENDA ]   1.15.1.1 [ KEGG ]   
PhosPhoSitePlusP00441
Domaine pattern : Prosite (Expaxy)SOD_CU_ZN_1 (PS00087)    SOD_CU_ZN_2 (PS00332)   
Domains : Interpro (EBI)SOD_Cu/Zn_BS    SOD_Cu_Zn_dom   
Domain families : Pfam (Sanger)Sod_Cu (PF00080)   
Domain families : Pfam (NCBI)pfam00080   
Conserved Domain (NCBI)SOD1
DMDM Disease mutations6647
Blocks (Seattle)SOD1
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP00441
Human Protein AtlasENSG00000142168
Peptide AtlasP00441
HPRD00937
IPIIPI00218733   IPI01011706   IPI00789078   
Protein Interaction databases
DIP (DOE-UCLA)P00441
IntAct (EBI)P00441
FunCoupENSG00000142168
BioGRIDSOD1
STRING (EMBL)SOD1
ZODIACSOD1
Ontologies - Pathways
QuickGOP00441
Ontology : AmiGOactivation of MAPK activity  response to reactive oxygen species  response to superoxide  ovarian follicle development  positive regulation of cytokine production  placenta development  retina homeostasis  response to amphetamine  myeloid cell homeostasis  platelet degranulation  superoxide dismutase activity  superoxide dismutase activity  superoxide dismutase activity  copper ion binding  protein binding  extracellular region  extracellular space  nucleus  nucleoplasm  cytoplasm  mitochondrion  mitochondrial intermembrane space  mitochondrial matrix  lysosome  peroxisome  peroxisome  cytosol  cytosol  plasma membrane  glutathione metabolic process  superoxide metabolic process  superoxide metabolic process  cellular iron ion homeostasis  spermatogenesis  embryo implantation  embryo implantation  cell aging  sensory perception of sound  locomotory behavior  anterograde axonal transport  retrograde axonal transport  regulation of blood pressure  zinc ion binding  response to heat  response to organic substance  transmission of nerve impulse  removal of superoxide radicals  removal of superoxide radicals  protein phosphatase 2B binding  extracellular matrix  dense core granule  cytoplasmic vesicle  response to nutrient levels  peripheral nervous system myelin maintenance  dendrite cytoplasm  positive regulation of superoxide anion generation  regulation of T cell differentiation in thymus  response to carbon monoxide  cellular response to potassium ion  regulation of multicellular organism growth  response to drug  response to hydrogen peroxide  superoxide anion generation  identical protein binding  protein homodimerization activity  neuronal cell body  positive regulation of apoptotic process  positive regulation of catalytic activity  regulation of GTPase activity  myelin sheath  protein complex  negative regulation of neuron apoptotic process  response to ethanol  negative regulation of cholesterol biosynthetic process  regulation of protein kinase activity  regulation of organ growth  response to antibiotic  response to copper ion  muscle cell cellular homeostasis  Rac GTPase binding  thymus development  response to axon injury  hydrogen peroxide biosynthetic process  hydrogen peroxide biosynthetic process  chaperone binding  regulation of mitochondrial membrane potential  oxidation-reduction process  heart contraction  neurofilament cytoskeleton organization  relaxation of vascular smooth muscle  auditory receptor cell stereocilium organization  extracellular exosome  cellular response to cadmium ion  cellular response to ATP  reactive oxygen species metabolic process  response to antipsychotic drug  positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  axon cytoplasm  
Ontology : EGO-EBIactivation of MAPK activity  response to reactive oxygen species  response to superoxide  ovarian follicle development  positive regulation of cytokine production  placenta development  retina homeostasis  response to amphetamine  myeloid cell homeostasis  platelet degranulation  superoxide dismutase activity  superoxide dismutase activity  superoxide dismutase activity  copper ion binding  protein binding  extracellular region  extracellular space  nucleus  nucleoplasm  cytoplasm  mitochondrion  mitochondrial intermembrane space  mitochondrial matrix  lysosome  peroxisome  peroxisome  cytosol  cytosol  plasma membrane  glutathione metabolic process  superoxide metabolic process  superoxide metabolic process  cellular iron ion homeostasis  spermatogenesis  embryo implantation  embryo implantation  cell aging  sensory perception of sound  locomotory behavior  anterograde axonal transport  retrograde axonal transport  regulation of blood pressure  zinc ion binding  response to heat  response to organic substance  transmission of nerve impulse  removal of superoxide radicals  removal of superoxide radicals  protein phosphatase 2B binding  extracellular matrix  dense core granule  cytoplasmic vesicle  response to nutrient levels  peripheral nervous system myelin maintenance  dendrite cytoplasm  positive regulation of superoxide anion generation  regulation of T cell differentiation in thymus  response to carbon monoxide  cellular response to potassium ion  regulation of multicellular organism growth  response to drug  response to hydrogen peroxide  superoxide anion generation  identical protein binding  protein homodimerization activity  neuronal cell body  positive regulation of apoptotic process  positive regulation of catalytic activity  regulation of GTPase activity  myelin sheath  protein complex  negative regulation of neuron apoptotic process  response to ethanol  negative regulation of cholesterol biosynthetic process  regulation of protein kinase activity  regulation of organ growth  response to antibiotic  response to copper ion  muscle cell cellular homeostasis  Rac GTPase binding  thymus development  response to axon injury  hydrogen peroxide biosynthetic process  hydrogen peroxide biosynthetic process  chaperone binding  regulation of mitochondrial membrane potential  oxidation-reduction process  heart contraction  neurofilament cytoskeleton organization  relaxation of vascular smooth muscle  auditory receptor cell stereocilium organization  extracellular exosome  cellular response to cadmium ion  cellular response to ATP  reactive oxygen species metabolic process  response to antipsychotic drug  positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  axon cytoplasm  
Pathways : BIOCARTACardiac Protection Against ROS [Genes]    Free Radical Induced Apoptosis [Genes]    The IGF-1 Receptor and Longevity [Genes]   
Pathways : KEGGPeroxisome    Amyotrophic lateral sclerosis (ALS)    Huntington's disease    Prion diseases   
NDEx NetworkSOD1
Atlas of Cancer Signalling NetworkSOD1
Wikipedia pathwaysSOD1
Orthology - Evolution
OrthoDB6647
GeneTree (enSembl)ENSG00000142168
Phylogenetic Trees/Animal Genes : TreeFamSOD1
HOVERGENP00441
HOGENOMP00441
Homologs : HomoloGeneSOD1
Homology/Alignments : Family Browser (UCSC)SOD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSOD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SOD1
dbVarSOD1
ClinVarSOD1
1000_GenomesSOD1 
Exome Variant ServerSOD1
ExAC (Exome Aggregation Consortium)SOD1 (select the gene name)
Genetic variants : HAPMAP6647
Genomic Variants (DGV)SOD1 [DGVbeta]
DECIPHERSOD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSOD1 
Mutations
ICGC Data PortalSOD1 
TCGA Data PortalSOD1 
Broad Tumor PortalSOD1
OASIS PortalSOD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSOD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSOD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SOD1
DgiDB (Drug Gene Interaction Database)SOD1
DoCM (Curated mutations)SOD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SOD1 (select a term)
intoGenSOD1
Cancer3DSOD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM105400    147450   
Orphanet106   
MedgenSOD1
Genetic Testing Registry SOD1
NextProtP00441 [Medical]
TSGene6647
GENETestsSOD1
Huge Navigator SOD1 [HugePedia]
snp3D : Map Gene to Disease6647
BioCentury BCIQSOD1
ClinGenSOD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6647
Chemical/Pharm GKB GenePA334
Clinical trialSOD1
Miscellaneous
canSAR (ICR)SOD1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSOD1
EVEXSOD1
GoPubMedSOD1
iHOPSOD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:38:31 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.