Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
4.1.2.13
Lyases;
Carbon-carbon lyases;
Aldehyde-lyases;
fructose-bisphosphate aldolase
PDB | Resolution (Å) | PDB name |
---|---|---|
1QO5 | 2.5 | Fructose 1,6-bisphosphate Aldolase from Human Liver Tissue |
1XDL | 3.0 | Structure of human aldolase B associated with hereditary fructose intolerance (A149P), at 277K |
1XDM | 3.0 | Structure of human aldolase B associated with hereditary fructose intolerance (A149P), at 291K |
8D44 | 2.8 | Cryo-electron microscopy structure of human kidney Fructose-bisphosphate aldolase B |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006116 | NADH oxidation |
Biological Process | GO:0030388 | fructose 1,6-bisphosphate metabolic process |
Biological Process | GO:0061624 | fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate |
Biological Process | GO:0006000 | fructose metabolic process |
Biological Process | GO:0006096 | glycolytic process |
Biological Process | GO:0032781 | positive regulation of ATP-dependent activity |
Biological Process | GO:0070072 | vacuolar proton-transporting V-type ATPase complex assembly |
Molecular Function | GO:0051117 | ATPase binding |
Molecular Function | GO:0008092 | cytoskeletal protein binding |
Molecular Function | GO:0070061 | fructose binding |
Molecular Function | GO:0061609 | fructose-1-phosphate aldolase activity |
Molecular Function | GO:0004332 | fructose-bisphosphate aldolase activity |
Molecular Function | GO:0042802 | identical protein binding |
Cellular Component | GO:0034451 | centriolar satellite |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0070062 | extracellular exosome |
Cellular Component | GO:0005815 | microtubule organizing center |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-5657560 | Hereditary fructose intolerance | Leaf | R-HSA-1643685 | Disease |
R-HSA-70171 | Glycolysis | Internal node | R-HSA-1430728 | Metabolism |
R-HSA-70263 | Gluconeogenesis | Leaf | R-HSA-1430728 | Metabolism |
R-HSA-70350 | Fructose catabolism | Leaf | R-HSA-1430728 | Metabolism |
Location | ECO term | Pubmed |
---|---|---|
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite | ECO:0000269 | PubMed:18000879 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000114 | Proximal tubulopathy |
HP:0000518 | Cataract |
HP:0000670 | Carious teeth |
HP:0000952 | Jaundice |
HP:0001069 | Episodic hyperhidrosis |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001254 | Lethargy |
HP:0001259 | Coma |
HP:0001394 | Cirrhosis |
HP:0001397 | Hepatic steatosis |
HP:0001508 | Failure to thrive |
HP:0001510 | Growth delay |
HP:0001942 | Metabolic acidosis |
HP:0001943 | Hypoglycemia |
HP:0002013 | Vomiting |
HP:0002014 | Diarrhea |
HP:0002018 | Nausea |
HP:0002019 | Constipation |
HP:0002027 | Abdominal pain |
HP:0002049 | Proximal renal tubular acidosis |
HP:0002148 | Hypophosphatemia |
HP:0002149 | Hyperuricemia |
HP:0002239 | Gastrointestinal hemorrhage |
HP:0002240 | Hepatomegaly |
HP:0002904 | Hyperbilirubinemia |
HP:0002910 | Elevated hepatic transaminase |
HP:0002918 | Hypermagnesemia |
HP:0003076 | Glycosuria |
HP:0003109 | Hyperphosphaturia |
HP:0003128 | Lactic acidosis |
HP:0003149 | Hyperuricosuria |
HP:0003256 | Abnormality of the coagulation cascade |
HP:0003270 | Abdominal distention |
HP:0003646 | Bicarbonaturia |
HP:0004395 | Malnutrition |
HP:0005973 | Fructose intolerance |
HP:0008273 | Transient aminoaciduria |
HP:0012051 | Reactive hypoglycemia |
HP:0012545 | Reduced circulating aldolase concentration |
HP:0012622 | Chronic kidney disease |
HP:0100626 | Chronic hepatic failure |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
hereditary fructose intolerance | MONDO:0009249 | E74 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:229600 | Orphanet:469 |