ALDOA Gene 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]
Details
| Type | Retained Intron |
| Official Symbol | ALDOA |
| Official Name | aldolase, fructose-bisphosphate A [Source:HGNC Symbol;Acc:HGNC:414] |
| Ensembl ID | ENSG00000149925 |
| Bio databases IDs | |
| Aliases | aldolase, fructose-bisphosphate A |
| Synonyms | ALDA,Aldo-1,Aldol A,ALDOLASE,Aldolase 1,Aldolase 1a,Aldolase A,aldolase A, fructose-bisphosphate,aldolase, fructose-bisphosphate A,Alfa,Gm15676,GSD12,HEL-S-87p,RNALDOG5 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- monosaccharide binding
- cytoskeletal protein binding
- protease binding
- TIM-like beta/alpha barrel domains
- tubulin binding
- Fructose-bisphosphate aldolase class-I
- actin binding
- fructose-bisphosphate aldolase
- enzyme
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cervical cancer
- neoplasia
- metastasis
- Alzheimer disease
- rheumatoid arthritis
- lung adenocarcinoma
- lung adenocarcinoma formation
- hepatocellular carcinoma
- organismal death
- papillary thyroid carcinoma
regulates
- reactive oxygen species
- glutathione peroxidase
- SOD
- p38 MAPK
- malondialdehyde
- ERK1/2
- lactic acid
- adenosine triphosphate
- D-fructose
- SNAI2
role in cell
- migration
- apoptosis
- proliferation
- formation
- phosphorylation in
- formation in
- survival
- binding
- organization
- invasion by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- detergent resistant lipid raft fraction
- heterochromatin
- secretory granule lumen
- ficolin-1-rich granule lumen
- cell surface
- Extracellular Space
- cell periphery
- organelle lumens
- cellular membrane
- actin cytoskeleton
- Nucleus
- Plasma Membrane
- cytosol
- alpha granules
- sperm fibrous sheath
- sperm head
- cytoplasmic droplets
- I band
- Z line
- exosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the ALDOA gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- regulation of cell shape
- muscle cell homeostasis
- binding of sperm to zona pellucida
- protein homotetramerization
- glycolysis
- actin filament organization
- fructose metabolic process
- striated muscle contraction
- ATP biosynthetic process
- fructose 1,6-bisphosphate metabolic process
cellular COMPONENT
Where in the cell the gene product is active
- platelet alpha granule lumen
- nucleus
- extracellular space
- extracellular vesicular exosome
- membrane
- actin cytoskeleton
- cytosol
- I band
- secretory granule lumen
- M band
- extracellular region
molecular FUNCTION
What the gene product does at the molecular level
- tubulin binding
- identical protein binding
- fructose binding
- protein binding
- RNA binding
- actin binding
- cadherin binding
- cytoskeletal protein binding
- fructose-bisphosphate aldolase activity