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; AllianceGenome:HGNC:11179
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
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (31659693..31668931)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (30027677..30036914)
RS_2024_09	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 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?

Skeletal myotubes expressing ALS mutant SOD1 induce pathogenic changes, impair mitochondrial axonal transport, and trigger motoneuron death.
Title: Skeletal myotubes expressing ALS mutant SOD1 induce pathogenic changes, impair mitochondrial axonal transport, and trigger motoneuron death.
Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.
Title: Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.
Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Perturb mRNA Splicing through Aberrant Interactions with SRSF2.
Title: Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Perturb mRNA Splicing through Aberrant Interactions with SRSF2.
SoDCoD: a comprehensive database of Cu/Zn superoxide dismutase conformational diversity caused by ALS-linked gene mutations and other perturbations.
Title: SoDCoD: a comprehensive database of Cu/Zn superoxide dismutase conformational diversity caused by ALS-linked gene mutations and other perturbations.
Amyloidogenic regions in beta-strands II and III modulate the aggregation and toxicity of SOD1 in living cells.
Title: Amyloidogenic regions in beta-strands II and III modulate the aggregation and toxicity of SOD1 in living cells.
High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
Title: High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells.
Title: SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells.
Observing Patterns in MRI With QSM in Patients With SOD1 Genetic ALS (5047).
Title: Observing Patterns in MRI With QSM in Patients With SOD1 Genetic ALS (5047).
Tryptophan residues in TDP-43 and SOD1 modulate the cross-seeding and toxicity of SOD1.
Title: Tryptophan residues in TDP-43 and SOD1 modulate the cross-seeding and toxicity of SOD1.
Pan-neuronal expression of human mutant SOD1 in Drosophila impairs survival and motor performance, induces early neuroinflammation and chromosome aberrations.
Title: Pan-neuronal expression of human mutant SOD1 in Drosophila impairs survival and motor performance, induces early neuroinflammation and chromosome aberrations.

Submit: New GeneRIF Correction See all GeneRIFs (1086)

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 GeneReviews: Amyotrophic Lateral Sclerosis Overview	not available
Spastic tetraplegia and axial hypotonia, progressive MedGen: C5231422 OMIM: 618598 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in action potential initiation	IEA Inferred from Electronic Annotation more info
involved_in anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in auditory receptor cell stereocilium organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in embryo implantation	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryo implantation	NAS Non-traceable Author Statement more info	PubMed
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glutathione metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in hydrogen peroxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in hydrogen peroxide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular iron ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle cell cellular homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in myeloid cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of developmental process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of reproductive process	IEA Inferred from Electronic Annotation more info
involved_in neurofilament cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuronal action potential	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in peripheral nervous system myelin maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in placenta development	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IC Inferred by Curator more info	PubMed
involved_in positive regulation of cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of superoxide anion generation	IDA Inferred from Direct Assay more info	PubMed
involved_in reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of T cell differentiation in thymus	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of organ growth	NAS Non-traceable Author Statement more info	PubMed
involved_in relaxation of vascular associated smooth muscle	ISS Inferred from Sequence or Structural Similarity more info
involved_in removal of superoxide radicals	IBA Inferred from Biological aspect of Ancestor more info
involved_in removal of superoxide radicals	IDA Inferred from Direct Assay more info	PubMed
involved_in removal of superoxide radicals	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to axon injury	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to ethanol	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to heat	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to hydrogen peroxide	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to superoxide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in retina homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in superoxide anion generation	IEA Inferred from Electronic Annotation more info
involved_in superoxide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in superoxide metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in thymus development	NAS Non-traceable Author Statement more info	PubMed
involved_in transmission of nerve impulse	ISS Inferred from Sequence or Structural Similarity more info

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

A6NHJ0, D3DSE4, P00441, Q16669, Q16711, Q16838, Q16839, Q16840, Q6NR85

UniProtKB/TrEMBL

H7BYH4, V9HWC9

Related

ENSP00000270142.7, ENST00000270142.11

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 ...