Protein family
Protein sequence
Protein function
Publications
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 |
|---|---|---|
| 1ALD | 2.0 | ACTIVITY AND SPECIFICITY OF HUMAN ALDOLASES |
| 2ALD | 2.1 | HUMAN MUSCLE ALDOLASE |
| 4ALD | 2.8 | HUMAN MUSCLE FRUCTOSE 1,6-BISPHOSPHATE ALDOLASE COMPLEXED WITH FRUCTOSE 1,6-BISPHOSPHATE |
| 5KY6 | 1.941 | Human muscle fructose-1,6-bisphosphate aldolase |
| 6XMH | 1.95 | Human aldolase A wild type |
| 6XML | 1.88 | Human aldolase A I98C |
| 6XMM | 2.11 | Human aldolase A I98S |
| 6XMO | 2.6 | Human aldolase A I98F |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006754 | ATP biosynthetic process |
| Biological Process | GO:0007015 | actin filament organization |
| Biological Process | GO:0007339 | binding of sperm to zona pellucida |
| Biological Process | GO:0030388 | fructose 1,6-bisphosphate metabolic process |
| Biological Process | GO:0006000 | fructose metabolic process |
| Biological Process | GO:0006096 | glycolytic process |
| Biological Process | GO:0046716 | muscle cell cellular homeostasis |
| Biological Process | GO:0051289 | protein homotetramerization |
| Biological Process | GO:0008360 | regulation of cell shape |
| Biological Process | GO:0006941 | striated muscle contraction |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0003779 | actin binding |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0008092 | cytoskeletal protein binding |
| Molecular Function | GO:0070061 | fructose binding |
| Molecular Function | GO:0004332 | fructose-bisphosphate aldolase activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0015631 | tubulin binding |
| Cellular Component | GO:0031674 | I band |
| Cellular Component | GO:0031430 | M band |
| Cellular Component | GO:0015629 | actin cytoskeleton |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:0005615 | extracellular space |
| Cellular Component | GO:1904813 | ficolin-1-rich granule lumen |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0031093 | platelet alpha granule lumen |
| Cellular Component | GO:0034774 | secretory granule lumen |
| Cellular Component | GO:0061827 | sperm head |
| Cellular Component | GO:1904724 | tertiary granule lumen |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-114608 | Platelet degranulation | Leaf | R-HSA-109582 | Hemostasis |
| R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
| R-HSA-70171 | Glycolysis | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-70263 | Gluconeogenesis | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm, myofibril, sarcomere, I band | ECO:0000250 | |
| Cytoplasm, myofibril, sarcomere, M line | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000286 | Epicanthus |
| HP:0000470 | Short neck |
| HP:0000508 | Ptosis |
| HP:0000750 | Delayed speech and language development |
| HP:0000823 | Delayed puberty |
| HP:0000952 | Jaundice |
| HP:0001081 | Cholelithiasis |
| HP:0001082 | Cholecystitis |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001324 | Muscle weakness |
| HP:0001328 | Specific learning disability |
| HP:0001510 | Growth delay |
| HP:0001744 | Splenomegaly |
| HP:0001878 | Hemolytic anemia |
| HP:0001895 | Normochromic anemia |
| HP:0001897 | Normocytic anemia |
| HP:0001903 | Anemia |
| HP:0001919 | Acute kidney injury |
| HP:0001930 | Nonspherocytic hemolytic anemia |
| HP:0001945 | Fever |
| HP:0002153 | Hyperkalemia |
| HP:0002162 | Low posterior hairline |
| HP:0002240 | Hepatomegaly |
| HP:0002904 | Hyperbilirubinemia |
| HP:0002913 | Myoglobinuria |
| HP:0003198 | Myopathy |
| HP:0003199 | Decreased muscle mass |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003326 | Myalgia |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003555 | Muscle fiber splitting |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003558 | Viral infection-induced rhabdomyolysis |
| HP:0003593 | Infantile onset |
| HP:0003641 | Hemoglobinuria |
| HP:0003756 | Skeletal myopathy |
| HP:0004322 | Short stature |
| HP:0008331 | Elevated creatine kinase after exercise |
| HP:0009045 | Exercise-induced rhabdomyolysis |
| HP:0011675 | Arrhythmia |
| HP:0012545 | Reduced circulating aldolase concentration |
| HP:0020181 | Reduced haptoglobin level |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0100295 | Muscle fiber atrophy |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Supported |
| adrenal gland | glandular cells | Medium | Supported |
| appendix | glandular cells | Medium | Supported |
| appendix | lymphoid tissue | Medium | Supported |
| bone marrow | hematopoietic cells | Medium | Supported |
| breast | glandular cells | Medium | Supported |
| breast | myoepithelial cells | Medium | Supported |
| bronchus | respiratory epithelial cells | Medium | Supported |
| cerebellum | GLUC cells - cytoplasm/membrane | Medium | Supported |
| cerebellum | Purkinje cells - cytoplasm/membrane | High | Supported |
| cerebellum | Purkinje cells - dendrites | High | Supported |
| cerebellum | Purkinje cells - nucleus | High | Supported |
| cerebellum | molecular layer cells - cytoplasm/membrane | Medium | Supported |
| cerebellum | synaptic glomeruli - core | Low | Supported |
| cerebral cortex | neuronal cells | Low | Supported |
| cerebral cortex | neuropil | Medium | Supported |
| cervix | glandular cells | Medium | Supported |
| cervix | squamous epithelial cells | Low | Supported |
| colon | endothelial cells | Low | Supported |
| colon | glandular cells | Medium | Supported |
| colon | peripheral nerve/ganglion | Medium | Supported |
| duodenum | glandular cells | Medium | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | Medium | Supported |
| esophagus | squamous epithelial cells | Medium | Supported |
| fallopian tube | glandular cells | Medium | Supported |
| gallbladder | glandular cells | Low | Supported |
| hippocampus | neuronal cells | Medium | Supported |
| kidney | cells in glomeruli | Low | Supported |
| kidney | cells in tubules | Medium | Supported |
| liver | cholangiocytes | Low | Supported |
| lung | alveolar cells | Low | Supported |
| lung | macrophages | Medium | Supported |
| lymph node | germinal center cells | Medium | Supported |
| lymph node | non-germinal center cells | Medium | Supported |
| nasopharynx | respiratory epithelial cells | Medium | Supported |
| oral mucosa | squamous epithelial cells | Medium | Supported |
| ovary | ovarian stroma cells | Low | Supported |
| pancreas | exocrine glandular cells | Medium | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| parathyroid gland | glandular cells | Medium | Supported |
| placenta | decidual cells | Medium | Supported |
| placenta | trophoblastic cells | Medium | Supported |
| prostate | glandular cells | Medium | Supported |
| rectum | glandular cells | Medium | Supported |
| salivary gland | glandular cells | Low | Supported |
| seminal vesicle | glandular cells | Medium | Supported |
| skeletal muscle | myocytes | High | Supported |
| skin 1 | cells in basal layer | Low | Supported |
| skin 1 | endothelial cells | Low | Supported |
| skin 1 | fibrohistiocytic cells | Low | Supported |
| skin 1 | lymphocytes | Low | Supported |
| skin 2 | cells in basal layer | Low | Supported |
| skin 2 | endothelial cells | Low | Supported |
| skin 2 | fibrohistiocytic cells | Low | Supported |
| skin 2 | lymphocytes | Low | Supported |
| small intestine | glandular cells | Low | Supported |
| smooth muscle | smooth muscle cells | Low | Supported |
| soft tissue 1 | fibroblasts | Medium | Supported |
| soft tissue 2 | fibroblasts | Medium | Supported |
| soft tissue 2 | peripheral nerve | Low | Supported |
| spleen | cells in red pulp | Medium | Supported |
| spleen | cells in white pulp | Medium | Supported |
| stomach 1 | glandular cells | Medium | Supported |
| stomach 2 | glandular cells | Medium | Supported |
| testis | Leydig cells | Medium | Supported |
| testis | elongated or late spermatids | Medium | Supported |
| testis | spermatogonia cells | Low | Supported |
| thyroid gland | glandular cells | Medium | Supported |
| tonsil | germinal center cells | Medium | Supported |
| tonsil | non-germinal center cells | Medium | Supported |
| tonsil | squamous epithelial cells | Medium | Supported |
| urinary bladder | urothelial cells | Medium | Supported |
| vagina | squamous epithelial cells | Low | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| glycogen storage disease due to aldolase a deficiency | MONDO:0012747 | E74 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:611881 | Orphanet:57 |