Seroatlas · Human Serome Atlas

SOD1

Superoxide dismutase [Cu-Zn]

Also known as: ALS, ALS1, IPOA, SODC_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P00441
Gene
SOD1
Ensembl
ENSG00000142168
Chromosome
21
Canonical length
154 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

154 residues, UniProt reviewed canonical sequence.

>P00441|SOD1
     1  MATKAVCVLK GDGPVQGIIN FEQKESNGPV KVWGSIKGLT EGLHGFHVHE FGDNTAGCTS
    61  AGPHFNPLSR KHGGPKDEER HVGDLGNVTA DKDGVADVSI EDSVISLSGD HCIIGRTLVV
   121  HEKADDLGKG GNEESTKTGN AGSRLACGVI GIAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
1,537 nTPM

Expression across tissuesHPA

Tissue

  • liver: 1,537 nTPM
  • choroid plexus: 709 nTPM
  • midbrain: 648 nTPM
  • adrenal gland: 619 nTPM
  • cerebral cortex: 613 nTPM
  • hypothalamus: 597 nTPM

Single-cell type

  • hepatocytes: 3,764 nCPM
  • gastric progenitor cells: 1,938 nCPM
  • oocytes: 1,662 nCPM
  • late spermatids: 1,476 nCPM
  • parietal cells: 1,084 nCPM
  • enterocytes: 1,020 nCPM

Immune cell

  • T-reg: 748 nTPM
  • naive CD4 T-cell: 523 nTPM
  • memory CD4 T-cell: 511 nTPM
  • total PBMC: 475 nTPM
  • non-classical monocyte: 468 nTPM
  • memory B-cell: 429 nTPM

Brain region

  • pons: 471 nTPM
  • white matter: 412 nTPM
  • hypothalamus: 397 nTPM
  • medulla oblongata: 396 nTPM
  • midbrain: 368 nTPM
  • cerebellum: 363 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOD1.

Disease | AllUniProt

Conditions SOD1 is implicated in, by any mechanism.

  • Amyotrophic lateral sclerosis 1 (ALS1) MIM:105400
  • Spastic tetraplegia and axial hypotonia, progressive (STAHP) MIM:618598

Disease | GeneticClinVar

131 pathogenic / likely-pathogenic of 322 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on SOD1 was assayed in.

ReferencesPubMed · IEDB

Publications for SOD1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

1 publication

Reference: T cellIEDB

1 publication

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.98
gnomAD pLI
0.18
gnomAD missense Z
0.84
DepMap mean gene effect
-1.38
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SOD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SOD1 as an antibody target. Whether an autoantibody or antibody against SOD1 could matter depends on whether native SOD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SOD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SOD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SOD1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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