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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
21
Cytoband
q22.11
Chromosome location (bp)
31659666 - 31668931
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Destroys radicals which are normally produced within the cells and which are toxic to biological systems....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Antioxidant, Oxidoreductase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Copper, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000302[response to reactive oxygen species] GO:0000303[response to superoxide] GO:0001541[ovarian follicle development] GO:0001819[positive regulation of cytokine production] GO:0001890[placenta development] GO:0001895[retina homeostasis] GO:0001975[response to amphetamine] GO:0002262[myeloid cell homeostasis] GO:0004784[superoxide dismutase activity] GO:0005507[copper ion binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005758[mitochondrial intermembrane space] GO:0005759[mitochondrial matrix] GO:0005764[lysosome] GO:0005777[peroxisome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006749[glutathione metabolic process] GO:0006801[superoxide metabolic process] GO:0006879[cellular iron ion homeostasis] GO:0006915[apoptotic process] GO:0006979[response to oxidative stress] GO:0007283[spermatogenesis] GO:0007566[embryo implantation] GO:0007568[aging] GO:0007605[sensory perception of sound] GO:0007626[locomotory behavior] GO:0008089[anterograde axonal transport] GO:0008090[retrograde axonal transport] GO:0008217[regulation of blood pressure] GO:0008270[zinc ion binding] GO:0009408[response to heat] GO:0009410[response to xenobiotic stimulus] GO:0010033[response to organic substance] GO:0016209[antioxidant activity] GO:0016491[oxidoreductase activity] GO:0019226[transmission of nerve impulse] GO:0019430[removal of superoxide radicals] GO:0019899[enzyme binding] GO:0030141[secretory granule] GO:0030346[protein phosphatase 2B binding] GO:0031045[dense core granule] GO:0031267[small GTPase binding] GO:0031410[cytoplasmic vesicle] GO:0031667[response to nutrient levels] GO:0032287[peripheral nervous system myelin maintenance] GO:0032839[dendrite cytoplasm] GO:0032930[positive regulation of superoxide anion generation] GO:0032991[protein-containing complex] GO:0033081[regulation of T cell differentiation in thymus] GO:0034465[response to carbon monoxide] GO:0034599[cellular response to oxidative stress] GO:0035234[ectopic germ cell programmed cell death] GO:0035865[cellular response to potassium ion] GO:0040014[regulation of multicellular organism growth] GO:0042542[response to hydrogen peroxide] GO:0042554[superoxide anion generation] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043085[positive regulation of catalytic activity] GO:0043087[regulation of GTPase activity] GO:0043167[ion binding] GO:0043410[positive regulation of MAPK cascade] GO:0043524[negative regulation of neuron apoptotic process] GO:0045471[response to ethanol] GO:0045541[negative regulation of cholesterol biosynthetic process] GO:0045859[regulation of protein kinase activity] GO:0046620[regulation of organ growth] GO:0046677[response to antibiotic] GO:0046688[response to copper ion] GO:0046716[muscle cell cellular homeostasis] GO:0046872[metal ion binding] GO:0048538[thymus development] GO:0048678[response to axon injury] GO:0050665[hydrogen peroxide biosynthetic process] GO:0050728[negative regulation of inflammatory response] GO:0050766[positive regulation of phagocytosis] GO:0051087[chaperone binding] GO:0051093[negative regulation of developmental process] GO:0051881[regulation of mitochondrial membrane potential] GO:0060047[heart contraction] GO:0060052[neurofilament cytoskeleton organization] GO:0060087[relaxation of vascular associated smooth muscle] GO:0060088[auditory receptor cell stereocilium organization] GO:0070062[extracellular exosome] GO:0071276[cellular response to cadmium ion] GO:0071318[cellular response to ATP] GO:0072593[reactive oxygen species metabolic process] GO:0097332[response to antipsychotic drug] GO:1902177[positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway] GO:1904115[axon cytoplasm] GO:2000242[negative regulation of reproductive process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
