ALDOA
Summary: This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| aldolase, fructose-bisphosphate A | MIM:103850 | Ensembl:ENSG00000285043 | HGNC:HGNC:414 | PA24707 | 16p11.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in ALDOA
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | TAS | GO:0003779 | actin binding |
| MF | EXP | GO:0004332 | fructose-bisphosphate aldolase activity |
| MF | IDA | GO:0004332 | fructose-bisphosphate aldolase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008092 | cytoskeletal protein binding |
| MF | TAS | GO:0015631 | tubulin binding |
| MF | TAS | GO:0042802 | identical protein binding |
| MF | HDA | GO:0045296 | cadherin binding |
| MF | IDA | GO:0070061 | fructose binding |
| BP | TAS | GO:0002576 | platelet degranulation |
| BP | IMP | GO:0006000 | fructose metabolic process |
| BP | TAS | GO:0006094 | gluconeogenesis |
| BP | IMP | GO:0006096 | glycolytic process |
| BP | IMP | GO:0006754 | ATP biosynthetic process |
| BP | IMP | GO:0006941 | striated muscle contraction |
| BP | TAS | GO:0007015 | actin filament organization |
| BP | IMP | GO:0007339 | binding of sperm to zona pellucida |
| BP | IDA | GO:0008360 | regulation of cell shape |
| BP | IDA | GO:0030388 | fructose 1,6-bisphosphate metabolic process |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IMP | GO:0046716 | muscle cell cellular homeostasis |
| BP | ISS | GO:0051289 | protein homotetramerization |
| BP | TAS | GO:0061621 | canonical glycolysis |
| CC | TAS | GO:0005576 | extracellular region |
| CC | HDA | GO:0005615 | extracellular space |
| CC | HDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0015629 | actin cytoskeleton |
| CC | HDA | GO:0016020 | membrane |
| CC | TAS | GO:0031093 | platelet alpha granule lumen |
| CC | IEA | GO:0031430 | M band |
| CC | TAS | GO:0031674 | I band |
| CC | TAS | GO:0034774 | secretory granule lumen |
| CC | IDA | GO:0061827 | sperm head |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:1904724 | tertiary granule lumen |
| CC | TAS | GO:1904813 | ficolin-1-rich granule lumen |
Gene expression in normal tissue: ALDOA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALDOA
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00031 | Pentose Phosphate Pathway |
| smpdb | SMP00040 | Glycolysis |
| smpdb | SMP00064 | Fructose and Mannose Degradation |
| smpdb | SMP00128 | Gluconeogenesis |
| smpdb | SMP00374 | Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease |
| smpdb | SMP00518 | Glucose-6-phosphate dehydrogenase deficiency |
| smpdb | SMP00519 | Ribose-5-phosphate isomerase deficiency |
| smpdb | SMP00520 | Transaldolase deficiency |
| smpdb | SMP00531 | Glycogenosis, Type VII. Tarui disease |
| smpdb | SMP00560 | Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1) |
| smpdb | SMP00561 | Fructosuria |
| smpdb | SMP00562 | Fructose-1,6-diphosphatase deficiency |
| smpdb | SMP00563 | Triosephosphate isomerase |
| smpdb | SMP00572 | Fanconi-bickel syndrome |
| smpdb | SMP00573 | Glycogenosis, Type IB |
| smpdb | SMP00574 | Glycogenosis, Type IC |
| smpdb | SMP00581 | Glycogenosis, Type IA. Von gierke disease |
| smpdb | SMP00725 | Fructose intolerance, hereditary |
| wikipathways | WP4018 | Pathways in clear cell renal cell carcinoma |
| wikipathways | WP534 | Glycolysis and Gluconeogenesis |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
| pid | hif1_tfpathway | HIF-1-alpha transcription factor network |
| biocarta | mta3pathway | downregulated of mta-3 in er-negative breast tumors |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-114608 | Platelet degranulation |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-70171 | Glycolysis |
| reactome | R-HSA-70263 | Gluconeogenesis |
| reactome | R-HSA-70326 | Glucose metabolism |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
| humancyc | PWY66-373 | sucrose degradation |
| humancyc | PWY66-399 | gluconeogenesis |
| humancyc | PWY66-400 | glycolysis |
| humancyc | PWY66-407 | superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle |
| kegg | hsa00010 | Glycolysis / Gluconeogenesis - Homo sapiens (human) |
| kegg | hsa00030 | Pentose phosphate pathway - Homo sapiens (human) |
| kegg | hsa00051 | Fructose and mannose metabolism - Homo sapiens (human) |
| kegg | hsa04066 | HIF-1 signaling pathway - Homo sapiens (human) |
| netpath | Pathway_EGFR1 | EGFR1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALDOA
CLASSFICATION
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