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UniProt functional annotation for Q86XE5 | ||
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| UniProt code: Q86XE5. |
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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: | |
Catalyzes the final step in the metabolic pathway of hydroxyproline. {ECO:0000269|PubMed:20797690, ECO:0000269|PubMed:21998747}. |
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| Catalytic activity: | |
Reaction=4-hydroxy-2-oxoglutarate = glyoxylate + pyruvate; Xref=Rhea:RHEA:18169, ChEBI:CHEBI:15361, ChEBI:CHEBI:17742, ChEBI:CHEBI:36655; EC=4.1.3.16; Evidence={ECO:0000269|PubMed:21998747}; |
| Activity regulation: | |
Inhibited by divalent cations. {ECO:0000250}. |
| Subunit: | |
Homotetramer. {ECO:0000250}. |
| Subcellular location: | |
Mitochondrion {ECO:0000250|UniProtKB:Q0P5I5}. |
| Disease: | |
Hyperoxaluria primary 3 (HP3) [MIM:613616]: A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection. {ECO:0000269|PubMed:20797690}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the DapA family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=CAC84901.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.