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UniProt functional annotation for P60174 | ||
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| UniProt code: P60174. |
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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: | |
Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis. {ECO:0000269|PubMed:18562316}. |
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| Function: | |
It is also responsible for the non-negligible production of methylglyoxal a reactive cytotoxic side-product that modifies and can alter proteins, DNA and lipids. {ECO:0000250|UniProtKB:P00939}. |
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| Catalytic activity: | |
Reaction=D-glyceraldehyde 3-phosphate = dihydroxyacetone phosphate; Xref=Rhea:RHEA:18585, ChEBI:CHEBI:57642, ChEBI:CHEBI:59776; EC=5.3.1.1; Evidence={ECO:0000269|PubMed:18562316}; |
| Catalytic activity: | |
Reaction=dihydroxyacetone phosphate = methylglyoxal + phosphate; Xref=Rhea:RHEA:17937, ChEBI:CHEBI:17158, ChEBI:CHEBI:43474, ChEBI:CHEBI:57642; EC=4.2.3.3; Evidence={ECO:0000250|UniProtKB:P00939}; |
| Biophysicochemical properties: | |
Kinetic parameters: KM=0.74 mM for D-glyceraldehyde 3-phosphate (at pH 7.4 and 25 degrees Celsius) {ECO:0000269|PubMed:18562316}; Vmax=7.1 mmol/min/mg enzyme {ECO:0000269|PubMed:18562316}; |
| Pathway: | |
Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate from glycerone phosphate: step 1/1. {ECO:0000255|PROSITE- ProRule:PRU10127}. |
| Pathway: | |
Carbohydrate biosynthesis; gluconeogenesis. {ECO:0000255|PROSITE-ProRule:PRU10127}. |
| Subunit: | |
Homodimer. {ECO:0000255|PROSITE-ProRule:PRU10127, ECO:0000269|PubMed:18562316, ECO:0000269|PubMed:8061610}. |
| Subcellular location: | |
Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU10127}. |
| Disease: | |
Triosephosphate isomerase deficiency (TPID) [MIM:615512]: An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy. {ECO:0000269|PubMed:2876430, ECO:0000269|PubMed:8503454, ECO:0000269|PubMed:8571957, ECO:0000269|PubMed:9338582, ECO:0000269|Ref.37}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Miscellaneous: | |
[Isoform 3]: Produced by alternative splicing. {ECO:0000305}. |
| Similarity: | |
Belongs to the triosephosphate isomerase family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=AAH70129.1; Type=Miscellaneous discrepancy; Note=Sequence differs at the C-terminus.; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.