SOD1

superoxide dismutase 1

Ensembl:
ENSG00000142168
UniProt:
P00441
OMIM:
147450
Synonyms:
ALS, ALS1, IPOA, STAHP, hSod1

Cilia effects upon perturbation of SOD1

Cilia number / % ciliated:
Unknown
Loss-of-function effect:
Unknown
Overexpression effect:
Unknown

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.47) PMID:26167766
  • Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585

Phenotypes

Mouse phenotype:
Sod1 knockout: increased age-related sarcopenia, cataracts, macular degeneration, hepatocellular carcinoma, shortened lifespan

Subcellular localization

cilia, cytosol, mitochondria, nucleus

Functional category

  • Antioxidant enzyme
  • Cilium-derived extracellular vesicles

Function

Cu-Zn cytosolic superoxide dismutase, a major antioxidant enzyme that catalyzes the dismutation of superoxide radicals to molecular oxygen and hydrogen peroxide. Homodimer with intramolecular disulfide bond (Cys57-Cys146) and binuclear Cu/Zn site per subunit. Predominantly cytosolic but also localizes to mitochondrial intermembrane space, peroxisomes, and nucleus (where it acts as a transcription factor for oxidative stress resistance). C. elegans SOD-1 affects extracellular vesicle shedding from the cilium distal tip and EV cargo enrichment in sensory neurons; loss of SOD-1 and the ALS-pathogenic SOD-1(G85R) variant increase EV release from the ciliary tip while decreasing glial uptake of base-derived EVs (Prova et al. 2026 Free Radic Biol Med 247:540-550, PMID 41672113). Major human disease gene: familial ALS1 (>200 mutations) and significant fraction of sporadic ALS. Mammalian ciliary role not yet directly demonstrated.

Model organism evidence

C. elegans (2 references)

C. elegans SOD-1 affects extracellular vesicle shedding from the cilium distal tip and EV cargo enrichment in sensory neurons (Prova et al. 2026, FRBM 247:540-550).

Loss of SOD-1 increases EV release from the ciliary tip while decreasing glial uptake of base-derived EVs.

PMIDs: 41672113, 41279722

Mus musculus (0 references)

Sod1 knockout: increased age-related sarcopenia, cataracts, macular degeneration, hepatocellular carcinoma, shortened lifespan. Direct ciliary phenotype not yet reported.