Homo sapiens Gene: ALDOA
Summary
InnateDB Gene IDBG-25500.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALDOA
Gene Name aldolase A, fructose-bisphosphate
Synonyms ALDA; GSD12; HEL-S-87p
Species Homo sapiens
Ensembl Gene ENSG00000149925
Encoded Proteins
aldolase A, fructose-bisphosphate
aldolase A, fructose-bisphosphate
aldolase A, fructose-bisphosphate
aldolase A, fructose-bisphosphate
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), 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. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:30053090-30070457
Strand Forward strand
Band p11.2
Transcripts
ENST00000338110 ENSP00000336927
ENST00000395248 ENSP00000378669
ENST00000395240 ENSP00000378661
ENST00000412304 ENSP00000400452
ENST00000562679 ENSP00000455455
ENST00000566146
ENST00000569798 ENSP00000455857
ENST00000569545 ENSP00000455700
ENST00000568435 ENSP00000457683
ENST00000562302
ENST00000562168 ENSP00000456020
ENST00000564546 ENSP00000455917
ENST00000565355 ENSP00000456098
ENST00000567249
ENST00000562240
ENST00000564595 ENSP00000457468
ENST00000566846 ENSP00000454499
ENST00000564688 ENSP00000457514
ENST00000563987 ENSP00000457643
ENST00000567555
ENST00000564521
ENST00000566012
ENST00000566130
ENST00000566280
ENST00000563060 ENSP00000455800
ENST00000575627
ENST00000566897 ENSP00000455724
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 63 [view]
Protein-Protein 62 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0004332 fructose-bisphosphate aldolase activity
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0015631 tubulin binding
GO:0042802 identical protein binding
GO:0044822 poly(A) RNA binding
GO:0070061 fructose binding
Biological Process
GO:0002576 platelet degranulation
GO:0005975 carbohydrate metabolic process
GO:0006000 fructose metabolic process
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0006754 ATP biosynthetic process
GO:0006941 striated muscle contraction
GO:0007015 actin filament organization
GO:0007596 blood coagulation
GO:0008360 regulation of cell shape
GO:0030168 platelet activation
GO:0030388 fructose 1,6-bisphosphate metabolic process
GO:0044281 small molecule metabolic process
GO:0046716 muscle cell cellular homeostasis
GO:0051289 protein homotetramerization
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005829 cytosol
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0031093 platelet alpha granule lumen
GO:0031430 M band
GO:0031674 I band
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
EGFR1 pathway
REACTOME
Platelet degranulation pathway
Response to elevated platelet cytosolic Ca2+ pathway
Glycolysis pathway
Gluconeogenesis pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Platelet activation, signaling and aggregation pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
Hemostasis pathway
KEGG
Glycolysis / Gluconeogenesis pathway
Pentose phosphate pathway pathway
Fructose and mannose metabolism pathway
INOH
Glycolysis Gluconeogenesis pathway
Fructose Mannose metabolism pathway
Pentose phosphate cycle pathway
PID NCI
HIF-1-alpha transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 226
UniGene Hs.513490
RefSeq NM_000034 NM_001127617 NM_001243177 NM_184041 NM_184043
HUGO HGNC:414
OMIM 103850
CCDS CCDS10668 CCDS58450
HPRD 00070
IMGT
EMBL
GenPept
RNA Seq Atlas 226