SOD1 superoxide dismutase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOD1provided by HGNC
Official Full Name: superoxide dismutase 1provided by HGNC
Primary source: HGNC:HGNC:11179
See related: Ensembl:ENSG00000142168 MIM:147450
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALS; SOD; ALS1; IPOA; STAHP; hSod1; HEL-S-44; homodimer
Summary: 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. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. 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 2020]
Expression: Ubiquitous expression in liver (RPKM 426.2), kidney (RPKM 226.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	21	NC_000021.9 (31659693..31668931)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (33032006..33041244)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The protective role of SOD1 overexpression in central mediation of bradycardia following chronic intermittent hypoxia in mice.
Title: The protective role of SOD1 overexpression in central mediation of bradycardia following chronic intermittent hypoxia in mice.
Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population.
Title: Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population.
Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.
Title: Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.
The Timing and Extent of Motor Neuron Vulnerability in ALS Correlates with Accumulation of Misfolded SOD1 Protein in the Cortex and in the Spinal Cord.
Title: The Timing and Extent of Motor Neuron Vulnerability in ALS Correlates with Accumulation of Misfolded SOD1 Protein in the Cortex and in the Spinal Cord.
Pro-Oxidant Activity of an ALS-Linked SOD1 Mutant in Zn-Deficient Form.
Title: Pro-Oxidant Activity of an ALS-Linked SOD1 Mutant in Zn-Deficient Form.
Examination of SOD1 aggregation modulators and their effect on SOD1 enzymatic activity as a proxy for potential toxicity.
Title: Examination of SOD1 aggregation modulators and their effect on SOD1 enzymatic activity as a proxy for potential toxicity.
Glutathione Peroxidase (GPx) and Superoxide Dismutase (SOD) in Oropharyngeal Cancer Associated with EBV and HPV Coinfection.
Title: Glutathione Peroxidase (GPx) and Superoxide Dismutase (SOD) in Oropharyngeal Cancer Associated with EBV and HPV Coinfection.
Insight into the Autosomal-Dominant Inheritance Pattern of SOD1-Associated ALS from Native Mass Spectrometry.
Title: Insight into the Autosomal-Dominant Inheritance Pattern of SOD1-Associated ALS from Native Mass Spectrometry.
Metabolism Regulation and Redox State: Insight into the Role of Superoxide Dismutase 1.
Title: Metabolism Regulation and Redox State: Insight into the Role of Superoxide Dismutase 1.
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Title: Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.

Submit: New GeneRIF Correction See all GeneRIFs (959)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis type 1 MedGen: C1862939 OMIM: 105400	Compare labs
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. GeneReviews: Not available
Spastic tetraplegia and axial hypotonia, progressive MedGen: C5231422 OMIM: 618598 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Antioxidant enzymes such as Cu/Zn-superoxide dismutase (SOD1) and/or glutathione peroxidase (GPx1) protect neuronal cells from HIV-1 gp120-induced programmed cell death	PubMed
Envelope surface glycoprotein gp160, precursor	env	Free radical scavengers such as superoxide dismutase (SOD), dimethylthiourea (DMTU) and catalase attenuate morphine and gp160-induced human monocyte apoptosis	PubMed
Tat	tat	HIV-1 Tat upregulates NQO1, CAT, SOD1, SOD2, and HMOX1 (HO1) mRNA levels in SH-SY5Y cells	PubMed
	tat	Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells	PubMed
	tat	HIV-1 Tat reduces the expression of MnSOD in several cell types	PubMed
	tat	Cotransduction with both SOD1 and GPx1 significantly prevents Tat-mediated increases in intracellular Ca2+ fluxes	PubMed
	tat	HIV-1 induced neuron apoptosis is protected by transduction with antioxidant enzymes, Cu/Zn superoxide dismutase (SOD1) and glutathione peroxidase (GPx1)	PubMed
	tat	Cell-permeable SOD inhibits the activation of MAP kinases including ERK, JNK and p38 and the upregulation of ICAM-1 and VCAM-1 by HIV-1 Tat	PubMed
	tat	Treatment of astrocytes with cell-permeable superoxide dismutase (SOD) leads to a decrease in Tat-induced ROS generation and NF-kappaB activation	PubMed
	tat	The membrane transduction efficiencies and biological activities of the SOD protein are enhanced by fusing with the Tat protein transduction domain (PTD) at both termini	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20764 (e-PCR)
- UniSTS:41750

A006F27 (e-PCR)
- UniSTS:41751

GDB:455467 (e-PCR)
- UniSTS:157465

GDB:185170 (e-PCR)
- UniSTS:155425

GDB:607616 (e-PCR)
- UniSTS:158241

RH80185 (e-PCR)
- UniSTS:86306

GDB:185171 (e-PCR)
- UniSTS:155426

GDB:374780 (e-PCR)
- UniSTS:156962

GDB:607623 (e-PCR)
- UniSTS:158243

GDB:607626 (e-PCR)
- UniSTS:158244

GDB:607629 (e-PCR)
- UniSTS:158245

SOD1 (e-PCR), detects polymorphism
- UniSTS:479785

SHGC-87564 (e-PCR)
- UniSTS:30768

PMC122237P1 (e-PCR)
- UniSTS:270388

PMC291829P1 (e-PCR)
- UniSTS:272436

PMC291829P2 (e-PCR)
- UniSTS:272437

GDB:192323 (e-PCR)
- UniSTS:155714

Sod1 (e-PCR), detects polymorphism
- UniSTS:144477

G34694 (e-PCR)
- UniSTS:78956

SHGC-132804 (e-PCR)
- UniSTS:170900

PMC316779P1 (e-PCR)
- UniSTS:273047

GDB:181632 (e-PCR)
- UniSTS:155319

SHGC-6902 (e-PCR)
- UniSTS:20976

MARC_26673-26674:1036188363:1 (e-PCR)
- UniSTS:269054

Homology

Homologs of the SOD1 gene: The SOD1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 339 organisms have orthologs with human gene SOD1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
copper ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
copper ion binding	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein phosphatase 2B binding	IDA Inferred from Direct Assay more info	PubMed
small GTPase binding	IDA Inferred from Direct Assay more info	PubMed
superoxide dismutase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
superoxide dismutase activity	IDA Inferred from Direct Assay more info	PubMed
zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
activation of MAPK activity	ISS Inferred from Sequence or Structural Similarity more info
anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
auditory receptor cell stereocilium organization	ISS Inferred from Sequence or Structural Similarity more info
cell aging	IMP Inferred from Mutant Phenotype more info	PubMed
cellular iron ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
cellular response to ATP	IEA Inferred from Electronic Annotation more info
cellular response to cadmium ion	IEA Inferred from Electronic Annotation more info
cellular response to oxidative stress	TAS Traceable Author Statement more info
cellular response to potassium ion	IEA Inferred from Electronic Annotation more info
embryo implantation	ISS Inferred from Sequence or Structural Similarity more info
embryo implantation	NAS Non-traceable Author Statement more info	PubMed
glutathione metabolic process	ISS Inferred from Sequence or Structural Similarity more info
heart contraction	IDA Inferred from Direct Assay more info	PubMed
hydrogen peroxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
hydrogen peroxide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
interleukin-12-mediated signaling pathway	TAS Traceable Author Statement more info
locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
muscle cell cellular homeostasis	ISS Inferred from Sequence or Structural Similarity more info
myeloid cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
neurofilament cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
ovarian follicle development	ISS Inferred from Sequence or Structural Similarity more info
peripheral nervous system myelin maintenance	ISS Inferred from Sequence or Structural Similarity more info
placenta development	NAS Non-traceable Author Statement more info	PubMed
platelet degranulation	TAS Traceable Author Statement more info
positive regulation of apoptotic process	IC Inferred by Curator more info	PubMed
positive regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cytokine production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of phagocytosis	IEA Inferred from Electronic Annotation more info
positive regulation of superoxide anion generation	IDA Inferred from Direct Assay more info	PubMed
reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
regulation of T cell differentiation in thymus	NAS Non-traceable Author Statement more info	PubMed
regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
regulation of organ growth	NAS Non-traceable Author Statement more info	PubMed
regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
relaxation of vascular associated smooth muscle	ISS Inferred from Sequence or Structural Similarity more info
removal of superoxide radicals	IBA Inferred from Biological aspect of Ancestor more info	PubMed
removal of superoxide radicals	IC Inferred by Curator more info	PubMed
removal of superoxide radicals	ISS Inferred from Sequence or Structural Similarity more info
response to amphetamine	IEA Inferred from Electronic Annotation more info
response to antibiotic	IEA Inferred from Electronic Annotation more info
response to antipsychotic drug	IEA Inferred from Electronic Annotation more info
response to axon injury	ISS Inferred from Sequence or Structural Similarity more info
response to carbon monoxide	IEA Inferred from Electronic Annotation more info
response to copper ion	IEA Inferred from Electronic Annotation more info
response to drug	ISS Inferred from Sequence or Structural Similarity more info
response to ethanol	ISS Inferred from Sequence or Structural Similarity more info
response to heat	ISS Inferred from Sequence or Structural Similarity more info
response to hydrogen peroxide	ISS Inferred from Sequence or Structural Similarity more info
response to nutrient levels	IEA Inferred from Electronic Annotation more info
response to organic substance	IDA Inferred from Direct Assay more info	PubMed
response to superoxide	IDA Inferred from Direct Assay more info	PubMed
retina homeostasis	ISS Inferred from Sequence or Structural Similarity more info
retrograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
superoxide anion generation	IEA Inferred from Electronic Annotation more info
superoxide metabolic process	IDA Inferred from Direct Assay more info	PubMed
superoxide metabolic process	ISS Inferred from Sequence or Structural Similarity more info
thymus development	NAS Non-traceable Author Statement more info	PubMed
transmission of nerve impulse	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
axon cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
dendrite cytoplasm	IDA Inferred from Direct Assay more info	PubMed
dense core granule	IEA Inferred from Electronic Annotation more info
extracellular exosome	HDA more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
lysosome	IEA Inferred from Electronic Annotation more info
mitochondrial intermembrane space	TAS Traceable Author Statement more info
mitochondrial matrix	NAS Non-traceable Author Statement more info	PubMed
mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	HDA more info	PubMed
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
peroxisome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
peroxisome	IDA Inferred from Direct Assay more info	PubMed
peroxisome	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed
protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: superoxide dismutase [Cu-Zn]

Names: Cu/Zn superoxide dismutase; SOD, soluble; epididymis secretory protein Li 44; indophenoloxidase A; superoxide dismutase 1, soluble; superoxide dismutase, cystolic

NP_000445.1

EC 1.15.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008689.1 RefSeqGene

Range

5001..14310

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_652

mRNA and Protein(s)

NM_000454.5 → NP_000445.1 superoxide dismutase [Cu-Zn]

See identical proteins and their annotated locations for NP_000445.1

Status: REVIEWED

Source sequence(s)

AV756797, BC001034, CA448539, X02317

Consensus CDS

CCDS33536.1

UniProtKB/Swiss-Prot

P00441

UniProtKB/TrEMBL

V9HWC9

Related

ENSP00000270142.6, ENST00000270142.10

Conserved Domains (1) summary

cd00305
Location:3 → 147

Cu-Zn_Superoxide_Dismutase; Copper/zinc superoxide dismutase (SOD). superoxide dismutases catalyse the conversion of superoxide radicals to molecular oxygen. Three evolutionarily distinct families of SODs are known, of which the copper/zinc-binding family is one. Defects in the ...