SOD1 Gene
protein-coding GIFtS: 81
GCID: GC21P033031
|
|
superoxide dismutase 1, soluble(Previous name: amyotrophic lateral sclerosis 1 (adult) )
(Previous symbols: ALS, ALS1)
| |
Aliases
for SOD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
10fRNAdb, 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 | | Homodimer1 | | IPOA1 2 | | Indophenoloxidase A2 | | HSod11 | | SOD, Soluble2 | | EC 1.15.1.13 8 | | Superoxide Dismutase [Cu-Zn]2 | | Amyotrophic Lateral Sclerosis 1 (Adult)1 | | Superoxide Dismutase, Cystolic2 | | Cu,Zn Superoxide Dismutase, EC 1.15.1.111 | | Superoxide Dismutase 13 |
Export aliases for SOD1 gene to outside databasesPrevious GC identifers: GC21P029609 GC21P031952 GC21P031953 GC21P018441 |
Summaries
for SOD1 gene(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:
The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying freesuperoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer toconvert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The otherisozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophiclateral sclerosis. Rare transcript variants have been reported for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SODC_HUMAN, P00441Function: Destroys radicals which are normally produced within the cells and which are toxic to biological systems
Gene Wiki entry for SOD1
|
Genomic Views
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 69),
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
|
| 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 |
Proteins
for SOD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 doesnot. 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 andaccumulates in mitochondria
Miscellaneous: The protein (both wild-type and ALS1 variants) has a tendency to form fibrillar aggregates in theabsence of the intramolecular disulfide bond or of bound zinc ions. These aggregates may have cytotoxic effects. Zincbinding promotes dimerization and stabilizes the native form
6/75 PDB 3D structures from  and Proteopedia  for SOD1 (see all 75):1AZV (3D)
1BA9 (3D)
1DSW (3D)
1FUN (3D)
1HL4 (3D)
1HL5 (3D)
Secondary accessions: A6NHJ0 D3DSE4 Q16669 Q16711 Q16838 Q16839 Q16840 Q6NR85Explore the universe of human proteins at neXtProt for SOD1: NX_P00441
Post-translational modifications:
Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated byRNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated byMARCH5 leading to their proteasomal degradation1
The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modificationmight only occur in extreme conditions and additional experimental evidence is required1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P00441
4/15 DME Specific Peptides for SOD1 (P00441) (see all 15)
SOD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000445.1
ENSEMBL proteins: ENSP00000270142 ENSP00000374645 Reactome Protein details: P00441
Human Recombinant Protein Products:
Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table
SOD1 for ontologies About GeneDecksing
SOD1 Antibody Products:
Assay Products for SOD1: |
Protein
Domains /
Families
for SOD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SOD1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P00441ProtoNet protein and cluster: P00441 1 Blocks protein family: IPB001424 Copper/Zinc superoxide dismutase
UniProtKB/Swiss-Prot: SODC_HUMAN, P00441Similarity: Belongs to the Cu-Zn superoxide dismutase family |
Function
for SOD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SODC_HUMAN, P00441Function: Destroys radicals which are normally produced within the cells and which are toxic to biological systemsCatalytic 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 radicaldetoxification,involved in the function of motor neuron,regulated by SP1,EGR1 and WT1
Enzyme Number (IUBMB): EC 1.15.1.11 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOD1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOD1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SOD1 (NM_000454) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SOD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOD1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOD1 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
SOD1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for SOD1:
Animal Models:
Mouse knock-outs for SOD1: Sod1tm1Dkd Sod1tm1Cje Sod1tm1Leb Sod1tm1Ysh Sod1tm1Cep
15 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Sod1):
SOD1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SOD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Platelet activation, signaling and aggregation | | | 2 | Platelet degranulation | | | 3 | Doxorubicin Pathway, Pharmacokinetics | | | 4 | Pathogenesis of ALS | | | 5 | Neuroscience | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for SOD1
1  Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SOD1
1 
Cell Signaling Technology (CST) Pathway for SOD1
2  GeneGo (Thomson Reuters) Pathways for SOD1
5/6  BioSystems Pathways for SOD1 (see all 6)
4 
Reactome Pathways for SOD1
4  PharmGKB Pathways for SOD1
4 
Kegg Pathways (Kegg details for SOD1):
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)
5/272 Interacting proteins for SOD1 (P004411, 2, 3 ENSP000002701424) via UniProtKB, MINT, STRING, and/or I2D (see all 272)About this table
Gene Ontology (GO): 5/56 biological process terms (GO ID links to tree view) (see all 56): About this table
SOD1 for ontologies About GeneDecksing
|
Drugs & Compounds
for SOD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for SOD1
7 HMDB Compounds for SOD1 About this table
2 DrugBank Compounds for SOD1 About this table
10/146 Novoseek 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
|
Transcripts
for SOD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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: BM9130654 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000270142(uc002ypa.3) ENST00000389995 ENST00000476106 ENST00000470944
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOD1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOD1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SOD1 (NM_000454) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SOD1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOD1 |
Additional cDNA sequence: AK312116.1 AY049787.1 AY450286.1 BC001034.1 BT006676.1 CR450355.1 CR541742.1 EF143990.1 EF151142.1 X02317.1 24/35 DOTS entries (see all 35): 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.100675808 DT.100675811 24/1124 AceView cDNA sequences (see all 1124): CA848439 BU728057 AA378728 N32576 BU735186 BU160983 BM755888 AI816164 AI253572 BM831803 BQ068851 BU174695 CB157210 BQ898030 BQ422342 BM662951 BI712427 AA181289 BM667865 CB117812 BM824471 BU730895 CA394407 X02317
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
|
Expression
for SOD1 gene
(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAAAGCAGA
About this image
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):
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOD1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOD1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOD1 |
Orthologs
for SOD1 gene
(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 last universal common ancestor (LUCA).
Orthologs for SOD1 gene from 10/30 species (see all 30) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
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 |
-- |
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 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
sodC6 |
superoxide dismutase, Cu, Zn |
22(a) |
1 → many |
Chromosome(1722158-1722679) |
ENSEMBL Gene Tree for SOD1 (if available)
TreeFam Gene Tree for SOD1 (if available) |
Paralogs
for SOD1 gene(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
|
Genomic Variants
for SOD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 21 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SOD1 (33031935 - 33041244 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for SOD1
3 CNVs: 90750 90751 90749
Human Gene Mutation Database (HGMD): SOD1
Locus Specific Mutation Databases (LSDB): SOD1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOD1 |
|
Disorders
/ Diseases
for SOD1 gene
(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.)
About This Section
|
SOD1 for disorders About GeneDecksing
OMIM gene information: 147450
OMIM disorders: 105400
UniProtKB/Swiss-Prot: SODC_HUMAN, P00441
Defects in SOD1 are the cause of amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]. ALS1 is a familialform of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons andresulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiologyof amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. Thedisease is inherited in 5-10% of cases leading to familial forms
20/416  diseases for SOD1 (see all 416): About MalaCardsamyotrophic lateral sclerosis lateral sclerosis ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities mild pre-eclampsia
spinal cord injury open-angle glaucoma pre-eclampsia post-traumatic stress disorder
absence of septum pellucidum maple syrup urine disease estrogen-receptor negative breast cancer cor pulmonale
xeroderma pigmentosum, group a glycogen storage disease type ia avascular necrosis of femoral head motor neuron disease
spinal muscular atrophy obsessive-compulsive disorder extrinsic allergic alveolitis mitral valve prolapse
2 diseases from the University of Copenhagen DISEASES database for SOD1:Amyotrophic lateral sclerosis Borderline personality disorder 10/95 Novoseek 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
Amyotrophic Lateral Sclerosis
Genetic Association Database (GAD): SOD1
Human Genome Epidemiology (HuGE) Navigator: SOD1 (95 documents)
Export disorders for SOD1 gene to outside databases
|
Publications
for SOD1 gene (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 5043):
(articles sorted by number of sources associating them with SOD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation. (PubMed id 12783432)1, 4, 9 Mayeux V....Camu W. (2003)
- A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis. (PubMed id 12710511)1, 4, 9 Mancuso M....Murri L. (2002)
- Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. (PubMed id 7501156)1, 2, 9 Ikeda M.... Itoyama Y. (1995)
- A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. (PubMed id 8179602)1, 2, 9 Nakano R.... Tsuji S. (1994)
|
External Searches for SOD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SOD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SOD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SOD1 gene(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
|
| Name | Description |
| PharmGKB entry for SOD1 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for SOD1 | Genetics and Cytogenetics in Oncology and Haematology | | Alsod | http://alsod.iop.kcl.ac.uk/Als/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOD1 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/sod1/ | | Wikipedia | http://en.wikipedia.org/wiki/Superoxide_dismutase |
|
| | |
About This Section
| Patent Information for SOD1 gene:
Search GeneIP for patents involving SOD1
Licensable Technologies for SOD1 gene:GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SOD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for SOD1 | | OriGene shRNA RFP for SOD1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOD1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOD1 | | | OriGene Protein Over-expression Lysate for SOD1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SOD1 | | OriGene 3'-UTR Clone for SOD1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOD1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOD1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for SOD1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SOD1 | | OriGene Custom Protein Services for SOD1 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SOD1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOD1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOD1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOD1 |
| |
 |  |  |  | |
| | Antibodies & Assays for SOD1 |
| | | | Search Tocris compounds for SOD1 |
| |  |  |  |  | | | | | | Recombinant Protein for SOD1 |
|
 |
 |
 |
 | | | SOD1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOD1 |
|  |  |  | | | | ThermoFisher Antibody for SOD1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOD1 |
|
|
|
|
GeneCards Homepage -
Last full update: 19 Mar 2013 -
Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013
View Random Gene
|
Category
|
|
|
von Willebrand factor
|
| GIFtS Group |
|
Developed at the Crown Human Genome Center,
Department of Molecular Genetics,
the Weizmann Institute of Science
Copyright © 1996-2013
, Weizmann Institute of Science. All Rights Reserved.
hostname: 356977-web1.xennexinc.com
index build: 100 solr: 1.4
|
