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UniProt functional annotation for P04179 | ||
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| UniProt code: P04179. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. {ECO:0000269|PubMed:10334867}. |
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| Catalytic activity: | |
Reaction=2 H(+) + 2 superoxide = H2O2 + O2; Xref=Rhea:RHEA:20696, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:18421; EC=1.15.1.1; |
| Cofactor: | |
Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 1 Mn(2+) ion per subunit.; |
| Subunit: | |
Homotetramer. {ECO:0000269|PubMed:19265433}. |
| Subcellular location: | |
Mitochondrion matrix. |
| Induction: | |
Expression is regulated by KRIT1. {ECO:0000269|PubMed:20668652}. |
| Ptm: | |
Nitrated under oxidative stress. Nitration coupled with oxidation inhibits the catalytic activity. {ECO:0000269|PubMed:10334867, ECO:0000269|PubMed:16399855}. |
| Ptm: | |
Acetylation at Lys-122 decreases enzymatic activity. Deacetylated by SIRT3 upon exposure to ionizing radiations or after long fasting (By similarity). {ECO:0000250|UniProtKB:P09671}. |
| Ptm: | |
Polyubiquitinated; leading to proteasomal degradation. Deubiquitinated by USP36 which increases protein stability. {ECO:0000269|PubMed:21268071}. |
| Disease: | |
Microvascular complications of diabetes 6 (MVCD6) [MIM:612634]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. {ECO:0000269|PubMed:12624725, ECO:0000269|PubMed:18989629}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the iron/manganese superoxide dismutase family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.