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Aliases for ALDOA Gene

Aliases for ALDOA Gene

  • Aldolase A, Fructose-Bisphosphate 2 3
  • Lung Cancer Antigen NY-LU-1 3 4
  • Muscle-Type Aldolase 3 4
  • EC 4.1.2.13 4 64
  • GSD12 3 6
  • ALDA 3 4
  • Epididymis Secretory Sperm Binding Protein Li 87p 3
  • Fructose-1,6-Bisphosphate Triosephosphate-Lyase 3
  • Fructose-Bisphosphate Aldolase A 3
  • HEL-S-87p 3

External Ids for ALDOA Gene

Summaries for ALDOA Gene

Entrez Gene Summary for ALDOA Gene

  • 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]

GeneCards Summary for ALDOA Gene

ALDOA (Aldolase A, Fructose-Bisphosphate) is a Protein Coding gene. Diseases associated with ALDOA include glycogen storage disease xii and mycetoma. Among its related pathways are Hemostasis and Hemostasis. GO annotations related to this gene include identical protein binding and cytoskeletal protein binding. An important paralog of this gene is ALDOB.

UniProtKB/Swiss-Prot for ALDOA Gene

  • Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).

Gene Wiki entry for ALDOA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDOA Gene

Genomics for ALDOA Gene

Genomic Location for ALDOA Gene

Start:
30,053,090 bp from pter
End:
30,070,457 bp from pter
Size:
17,368 bases
Orientation:
Plus strand

Genomic View for ALDOA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDOA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDOA Gene

Regulatory Elements for ALDOA Gene

Transcription factor binding sites by QIAGEN in the ALDOA gene promoter:

Proteins for ALDOA Gene

  • Protein details for ALDOA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04075-ALDOA_HUMAN
    Recommended name:
    Fructose-bisphosphate aldolase A
    Protein Accession:
    P04075
    Secondary Accessions:
    • B4DXI7
    • Q6FH76
    • Q6FI10
    • Q96B15
    • Q9BWD9
    • Q9UCN2

    Protein attributes for ALDOA Gene

    Size:
    364 amino acids
    Molecular mass:
    39420 Da
    Quaternary structure:
    • Homotetramer. Interacts with SNX9 and WAS (By similarity). Interacts with FBP2; the interaction blocks FBP2 inhibition by physiological concentrations of AMP and reduces inhibition by Ca(2+).
    Miscellaneous:
    • In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain

    Three dimensional structures from OCA and Proteopedia for ALDOA Gene

    Alternative splice isoforms for ALDOA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDOA Gene

Proteomics data for ALDOA Gene at MOPED

Post-translational modifications for ALDOA Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys14, Lys28, Lys42, Lys87, Lys108, Lys111, Lys147, Lys153, Lys200, Lys208, Lys230, Lys294, Lys312, Lys318, Lys322, Lys330, and Lys342

Domains for ALDOA Gene

Protein Domains for ALDOA Gene

UniProtKB/Swiss-Prot:

ALDOA_HUMAN
Family:
  • Belongs to the class I fructose-bisphosphate aldolase family.:
    • P04075
genes like me logo Genes that share domains with ALDOA: view

No data available for Gene Families for ALDOA Gene

Function for ALDOA Gene

Molecular function for ALDOA Gene

GENATLAS Biochemistry: aldolase A,fructose-bisphosphate,expressed in muscle (M type),and in most other tissues,(N and H types),overexpressed in most lung cancers,homotetramer,fructose metabolism,energy pathway,more affinity for F-1-P than for F-1,6-P
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=52 uM for fructose 1,6-bisphosphate (at 30 degrees Celsius) {ECO:0000269 PubMed:14766013}; Temperature dependence: Thermal denaturation midpoint (Tm) is 54.4 degrees Celsius. {ECO:0000269 PubMed:14766013};
UniProtKB/Swiss-Prot CatalyticActivity: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate
UniProtKB/Swiss-Prot Function: Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).

Enzyme Numbers (IUBMB) for ALDOA Gene

Gene Ontology (GO) - Molecular Function for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 1008835
GO:0004332 fructose-bisphosphate aldolase activity IDA 14766013
GO:0005515 protein binding IPI 20849852
GO:0008092 cytoskeletal protein binding IDA 9244396
GO:0015631 tubulin binding TAS 17329259
genes like me logo Genes that share ontologies with ALDOA: view
genes like me logo Genes that share phenotypes with ALDOA: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ALDOA Gene

Localization for ALDOA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDOA Gene

Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, M line. Note=In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca(2+). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDOA Gene COMPARTMENTS Subcellular localization image for ALDOA gene
Compartment Confidence
cytoskeleton 4
cytosol 4
extracellular 4
chloroplast 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 23580065
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
GO:0015629 actin cytoskeleton IDA 9244396
genes like me logo Genes that share ontologies with ALDOA: view

Pathways for ALDOA Gene

genes like me logo Genes that share pathways with ALDOA: view

UniProtKB/Swiss-Prot P04075-ALDOA_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4

Gene Ontology (GO) - Biological Process for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006000 fructose metabolic process IMP 14615364
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
genes like me logo Genes that share ontologies with ALDOA: view

Compounds for ALDOA Gene

(6) HMDB Compounds for ALDOA Gene

Compound Synonyms Cas Number PubMed IDs
D-Erythrose 4-phosphate
  • D-Erythrose 4-phosphate
585-18-2
D-Glyceraldehyde 3-phosphate
  • 2-hydroxy-3-(phosphonooxy)-Propanal
142-10-9
Dihydroxyacetone phosphate
  • 1,3-Dihydroxy-2-propanone phosphate
57-04-5
Fructose 1,6-bisphosphate
  • D-Fructose 1,6-biphosphate
488-69-7
Fructose 1-phosphate
  • D-fructose-1-P
15978-08-2

(20) Novoseek inferred chemical compound relationships for ALDOA Gene

Compound -log(P) Hits PubMed IDs
fructose-1,6-bisphosphate 87.3 13
fructose 1-phosphate 81.6 1
glyceraldehyde 3-phosphate 68.8 12
glyceraldehyde 68.6 1
dhap 55.5 1
genes like me logo Genes that share compounds with ALDOA: view

Transcripts for ALDOA Gene

Unigene Clusters for ALDOA Gene

Aldolase A, fructose-bisphosphate:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDOA Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d ·
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5:
SP6: - - - - - - -
SP7:
SP8:
SP9: - - - - - - -
SP10: - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - - -
SP17: - - - -
SP18: - - - - - -
SP19: - - - - -
SP20: -
SP21: - - - - - -
SP22:
SP23: -
SP24:

ExUns: 9e ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8: - - - - -
SP9: - - - - -
SP10: - -
SP11: - - - -
SP12: - - -
SP13: - -
SP14:
SP15: -
SP16:
SP17:
SP18: - -
SP19:
SP20:
SP21: - -
SP22:
SP23:
SP24:

Relevant External Links for ALDOA Gene

GeneLoc Exon Structure for
ALDOA
ECgene alternative splicing isoforms for
ALDOA

Expression for ALDOA Gene

mRNA expression in normal human tissues for ALDOA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDOA Gene

This gene is overexpressed in Muscle - Skeletal (10.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDOA Gene

SOURCE GeneReport for Unigene cluster for ALDOA Gene Hs.513490

genes like me logo Genes that share expressions with ALDOA: view

Orthologs for ALDOA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDOA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDOA 36
  • 99.36 (n)
  • 99.45 (a)
ALDOA 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDOA 36
  • 92.12 (n)
  • 97.8 (a)
ALDOA 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 95 (a)
OneToMany
-- 37
  • 56 (a)
OneToMany
ALDOA 36
  • 91.75 (n)
  • 94.71 (a)
mouse
(Mus musculus)
Mammalia Aldoa 36
  • 90.11 (n)
  • 94.5 (a)
Aldoa 16
Aldoa 37
  • 94 (a)
OneToMany
Aldoart1 37
  • 89 (a)
OneToMany
Aldoart2 37
  • 93 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ALDOA 37
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDOA 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldoa 36
  • 89.29 (n)
  • 96.98 (a)
lizard
(Anolis carolinensis)
Reptilia ALDOA 37
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53030 36
tropical clawed frog
(Silurana tropicalis)
Amphibia aldoa 36
  • 80.68 (n)
  • 89.29 (a)
Str.6670 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2063 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
aldoaa 36
  • 75.64 (n)
  • 84.34 (a)
aldoaa 37
  • 84 (a)
OneToMany
aldoab 37
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ald 37
  • 69 (a)
ManyToMany
CG5432 37
  • 56 (a)
ManyToMany
Ald 38
  • 69 (a)
CG5432 38
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea aldo-1 37
  • 66 (a)
ManyToMany
aldo-2 36
  • 63.11 (n)
  • 66.29 (a)
aldo-2 37
  • 65 (a)
ManyToMany
F01F1.12b 38
  • 64 (a)
T05D4.1 38
  • 67 (a)
F01F1.12a 38
  • 65 (a)
corn
(Zea mays)
Liliopsida Zm.7177 36
rice
(Oryza sativa)
Liliopsida Os.46386 36
Os08g0120600 36
  • 62.67 (n)
  • 61.43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11039 37
  • 68 (a)
OneToMany
Species with no ortholog for ALDOA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDOA Gene

ENSEMBL:
Gene Tree for ALDOA (if available)
TreeFam:
Gene Tree for ALDOA (if available)

Paralogs for ALDOA Gene

Paralogs for ALDOA Gene

Selected SIMAP similar genes for ALDOA Gene using alignment to 10 proteins:

Pseudogenes.org Pseudogenes for ALDOA Gene

genes like me logo Genes that share paralogs with ALDOA: view

Variants for ALDOA Gene

Sequence variations from dbSNP and Humsavar for ALDOA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs11135 -- 30,070,224(+) GTGTT(A/C)CCAGG utr-variant-3-prime
rs12831 -- 30,070,240(+) CCCAA(A/C)AACTC utr-variant-3-prime
rs1061406 -- 30,070,191(+) CTCTT(C/T)GTCTC reference, synonymous-codon
rs1061993 -- 30,070,293(+) CGGGG(C/G)TCCAG utr-variant-3-prime
rs1062217 -- 30,070,320(+) TCTTT(C/T)TTCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ALDOA Gene

Variant ID Type Subtype PubMed ID
dgv2668n71 CNV Loss 21882294
nsv833187 CNV Loss 17160897
nsv905720 CNV Loss 21882294
dgv846e1 CNV Complex 17122850

Relevant External Links for ALDOA Gene

HapMap Linkage Disequilibrium report
ALDOA
Human Gene Mutation Database (HGMD)
ALDOA

Disorders for ALDOA Gene

(1) OMIM Diseases for ALDOA Gene (103850)

UniProtKB/Swiss-Prot

ALDOA_HUMAN
  • Glycogen storage disease 12 (GSD12) [MIM:611881]: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. {ECO:0000269 PubMed:14615364, ECO:0000269 PubMed:14766013, ECO:0000269 PubMed:2825199, ECO:0000269 PubMed:8598869}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ALDOA Gene

(13) Novoseek inferred disease relationships for ALDOA Gene

Disease -log(P) Hits PubMed IDs
anemia hemolytic 54.8 5
urinary tract diseases 31.6 2
rhabdomyolysis 30.4 1
myopathy 27.1 4
carcinoma renal cell 15.8 3

Genatlas disease for ALDOA Gene

Hemolytic anemia

Relevant External Links for ALDOA

Genetic Association Database (GAD)
ALDOA
Human Genome Epidemiology (HuGE) Navigator
ALDOA
genes like me logo Genes that share disorders with ALDOA: view

Publications for ALDOA Gene

  1. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). (PMID: 14615364) Yao D.C. … Neufeld E.J. (Blood 2004) 3 4 23 49
  2. Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. (PMID: 14766013) Esposito G. … Salvatore F. (Biochem. J. 2004) 3 4 23
  3. Human aldolase A of a hemolytic anemia patient with Asp-128-->Gly substitution: characteristics of an enzyme generated in E. coli transfected with the expression plasmid pHAAD128G. (PMID: 2229018) Takasaki Y. … Hori K. (J. Biochem. 1990) 3 4 23
  4. Evolutionary conserved N-terminal region of human muscle fructose 1,6-bisphosphatase regulates its activity and the interaction with aldolase. (PMID: 18214967) Gizak A. … Rakus D. (Proteins 2008) 3 4 23
  5. Identification of transglutaminase substrates in HT29 colon cancer cells: use of 5-(biotinamido)pentylamine as a transglutaminase- specific probe. (PMID: 1353685) Lee K.N. … Conway E. (Biochim. Biophys. Acta 1992) 3 4 23

Products for ALDOA Gene

Sources for ALDOA Gene

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