Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
4.2.3.3
Lyases;
Carbon-oxygen lyases;
Acting on phosphates;
methylglyoxal synthase
5.3.1.1
Isomerases;
Intramolecular oxidoreductases;
Interconverting aldoses and ketoses, and related compounds;
triose-phosphate isomerase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1HTI | 2.8 | CRYSTAL STRUCTURE OF RECOMBINANT HUMAN TRIOSEPHOSPHATE ISOMERASE AT 2.8 ANGSTROMS RESOLUTION. TRIOSEPHOSPHATE ISOMERASE RELATED HUMAN GENETIC DISORDERS AND COMPARISON WITH THE TRYPANOSOMAL ENZYME |
| 1KLG | 2.4 | Crystal structure of HLA-DR1/TPI(23-37, Thr28-->Ile mutant) complexed with staphylococcal enterotoxin C3 variant 3B2 (SEC3-3B2) |
| 1KLU | 1.93 | Crystal structure of HLA-DR1/TPI(23-37) complexed with staphylococcal enterotoxin C3 variant 3B2 (SEC3-3B2) |
| 1WYI | 2.2 | human triosephosphate isomerase of new crystal form |
| 2IAM | 2.8 | Structural basis for recognition of mutant self by a tumor-specific, MHC class II-restricted TCR |
| 2IAN | 2.8 | Structural basis for recognition of mutant self by a tumor-specific, MHC class II-restricted TCR |
| 2JK2 | 1.7 | STRUCTURAL BASIS OF HUMAN TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. CRYSTAL STRUCTURE OF THE WILD TYPE ENZYME. |
| 2VOM | 1.85 | Structural basis of human triosephosphate isomerase deficiency. Mutation E104D and correlation to solvent perturbation. |
| 4BR1 | 1.9 | Protease-induced heterodimer of human triosephosphate isomerase. |
| 4E41 | 2.6 | Structural basis for the recognition of mutant self by a tumor-specific, MHC class II-restricted T cell receptor G4 |
| 4POC | 1.601 | Structure of Triosephosphate Isomerase Wild Type human enzyme. |
| 4POD | 1.99 | Structure of Triosephosphate Isomerase I170V mutant human enzyme. |
| 4UNK | 2.0 | Crystal structure of human triosephosphate isomerase (mutant N15D) |
| 4UNL | 1.5 | Crystal structure of a single mutant (N71D) of triosephosphate isomerase from human |
| 4ZVJ | 1.6996 | Structure of human triose phosphate isomerase K13M |
| 6C2G | 2.3 | Human triosephosphate isomerase mutant V231M |
| 6D43 | 2.04 | CHARACTERIZATION OF HUMAN TRIOSEPHOSPHATE ISOMERASE S-NITROSYLATION |
| 6NLH | 2.199 | Structure of human triose phosphate isomerase R189A |
| 6UP1 | 1.83 | Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure |
| 6UP5 | 1.92 | Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure |
| 6UP8 | 2.0 | Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure |
| 6UPF | 1.65 | Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure |
| 7RDE | 1.31 | Human Triose Phosphate Isomerase Q181P |
| 7SX1 | 2.23 | human triosephosphate isomerase mutant v154m |
| 7T0Q | 2.0 | human triosephosphate isomerase mutant v154m |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0061621 | canonical glycolysis |
| Biological Process | GO:0006094 | gluconeogenesis |
| Biological Process | GO:0046166 | glyceraldehyde-3-phosphate biosynthetic process |
| Biological Process | GO:0019563 | glycerol catabolic process |
| Biological Process | GO:0006096 | glycolytic process |
| Biological Process | GO:0019242 | methylglyoxal biosynthetic process |
| Molecular Function | GO:0008929 | methylglyoxal synthase activity |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0004807 | triose-phosphate isomerase activity |
| Molecular Function | GO:0031625 | ubiquitin protein ligase binding |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005615 | extracellular space |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-70171 | Glycolysis | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-70263 | Gluconeogenesis | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000255 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000543 | Optic disc pallor |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0000952 | Jaundice |
| HP:0001081 | Cholelithiasis |
| HP:0001082 | Cholecystitis |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001332 | Dystonia |
| HP:0001337 | Tremor |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001562 | Oligohydramnios |
| HP:0001635 | Congestive heart failure |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001744 | Splenomegaly |
| HP:0001878 | Hemolytic anemia |
| HP:0001895 | Normochromic anemia |
| HP:0001897 | Normocytic anemia |
| HP:0001972 | Macrocytic anemia |
| HP:0002059 | Cerebral atrophy |
| HP:0002093 | Respiratory insufficiency |
| HP:0002098 | Respiratory distress |
| HP:0002317 | Unsteady gait |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002808 | Kyphosis |
| HP:0002878 | Respiratory failure |
| HP:0003198 | Myopathy |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003323 | Progressive muscle weakness |
| HP:0003623 | Neonatal onset |
| HP:0004870 | Chronic hemolytic anemia |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0006597 | Diaphragmatic paralysis |
| HP:0007009 | Central nervous system degeneration |
| HP:0009830 | Peripheral neuropathy |
| HP:0010978 | Abnormality of immune system physiology |
| HP:0011421 | Death in adolescence |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| triosephosphate isomerase deficiency | MONDO:0014221 | D55 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | OMIM:615512 | Orphanet:868 |