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Aliases for ALDOB Gene

Aliases for ALDOB Gene

  • Aldolase, Fructose-Bisphosphate B 2 3 5
  • Aldolase B, Fructose-Bisphosphate 2 3
  • Liver-Type Aldolase 3 4
  • EC 4.1.2.13 4 63
  • ALDB 3 4
  • Aldolase B, Fructose-Bisphosphatase 3
  • Aldolase 2 3
  • ALDO2 3

External Ids for ALDOB Gene

Previous GeneCards Identifiers for ALDOB Gene

  • GC09M094983
  • GC09M095927
  • GC09M097641
  • GC09M099563
  • GC09M101263
  • GC09M103222
  • GC09M104182
  • GC09M073782

Summaries for ALDOB Gene

Entrez Gene Summary for ALDOB Gene

  • Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]

GeneCards Summary for ALDOB Gene

ALDOB (Aldolase, Fructose-Bisphosphate B) is a Protein Coding gene. Diseases associated with ALDOB include fructose intolerance and posterior myocardial infarction. Among its related pathways are Carbon metabolism and Fructose and mannose metabolism. GO annotations related to this gene include identical protein binding and ATPase binding. An important paralog of this gene is ALDOA.

Gene Wiki entry for ALDOB Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDOB Gene

Genomics for ALDOB Gene

Regulatory Elements for ALDOB Gene

Enhancers for ALDOB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ALDOB on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ALDOB Gene

Chromosome:
9
Start:
101,420,560 bp from pter
End:
101,435,823 bp from pter
Size:
15,264 bases
Orientation:
Minus strand

Genomic View for ALDOB Gene

Genes around ALDOB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDOB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDOB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDOB Gene

Proteins for ALDOB Gene

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

    Protein Symbol:
    P05062-ALDOB_HUMAN
    Recommended name:
    Fructose-bisphosphate aldolase B
    Protein Accession:
    P05062
    Secondary Accessions:
    • Q13741
    • Q13742
    • Q5T7D6

    Protein attributes for ALDOB Gene

    Size:
    364 amino acids
    Molecular mass:
    39473 Da
    Quaternary structure:
    • Homotetramer. Interacts with BBS1, BBS2, BBS4 and BBS7.
    Miscellaneous:
    • In vertebrates, 3 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 ALDOB Gene

neXtProt entry for ALDOB Gene

Proteomics data for ALDOB Gene at MOPED

Post-translational modifications for ALDOB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDOB Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALDOB Gene

Protein Domains for ALDOB Gene

Suggested Antigen Peptide Sequences for ALDOB Gene

Graphical View of Domain Structure for InterPro Entry

P05062

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for ALDOB Gene

Function for ALDOB Gene

Molecular function for ALDOB Gene

GENATLAS Biochemistry:
aldolase B,fructose-bisphosphate,homotetramer,fructose metabolism,induced after feeding a carbohydrate diet,energy pathway,same affinity for F-1-P and F-1,6-P
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.6 uM for fructose 1,6-bisphosphate {ECO:0000269 PubMed:10970798}; KM=2.3 mM for fructose 1-phosphate {ECO:0000269 PubMed:10970798};
UniProtKB/Swiss-Prot CatalyticActivity:
D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.

Enzyme Numbers (IUBMB) for ALDOB Gene

Gene Ontology (GO) - Molecular Function for ALDOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004332 fructose-bisphosphate aldolase activity IEA,IDA 9244396
GO:0042802 identical protein binding IPI 10625657
genes like me logo Genes that share ontologies with ALDOB: view
genes like me logo Genes that share phenotypes with ALDOB: view

Human Phenotype Ontology for ALDOB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDOB Gene

MGI Knock Outs for ALDOB:

Animal Model Products

miRNA for ALDOB Gene

miRTarBase miRNAs that target ALDOB

No data available for Transcription Factor Targets and HOMER Transcription for ALDOB Gene

Localization for ALDOB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDOB Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDOB Gene COMPARTMENTS Subcellular localization image for ALDOB gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 4
lysosome 3
vacuole 3
chloroplast 2
endoplasmic reticulum 2
mitochondrion 2
peroxisome 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ALDOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IDA 18000879
GO:0034451 centriolar satellite IDA 18000879
genes like me logo Genes that share ontologies with ALDOB: view

Pathways & Interactions for ALDOB Gene

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

UniProtKB/Swiss-Prot P05062-ALDOB_HUMAN

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

Gene Ontology (GO) - Biological Process for ALDOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006000 fructose metabolic process IMP,TAS 3383242
GO:0006116 NADH oxidation IDA 17576770
GO:0009743 response to carbohydrate IEA --
GO:0009750 response to fructose IEA --
GO:0014070 response to organic cyclic compound IEA --
genes like me logo Genes that share ontologies with ALDOB: view

No data available for SIGNOR curated interactions for ALDOB Gene

Drugs & Compounds for ALDOB Gene

(13) Drugs for ALDOB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102
1,3-Dihydroxyacetonephosphate Experimental Pharma Target 0
1,6-Fructose Diphosphate (Linear Form) Experimental Pharma Target 0
3-Phosphoglycerol Experimental Pharma Target 0
Glyceraldehyde-3-Phosphate Experimental Pharma 0

(12) Additional Compounds for ALDOB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
fructose 1-phosphate
  • D-Fructose 1-phosphate
  • D-Fructose-1-P
  • D-Fructose-1-phosphate
  • Fructose 1-phosphate
  • Fructose-1-P
15978-08-2
beta-D-Fructose 1,6-bisphosphate
D-Erythrose 4-phosphate
  • D-Erythrose 4-phosphate
  • D-Erythrose 4-PO4
  • D-Erythrose-4-P
  • D-Erythrose-4-phosphate
  • Erythrose 4-phosphate
585-18-2
Dihydroxyacetone phosphate
  • 1,3-Dihydroxy-2-Propanone mono(dihydrogen phosphate)
  • 1,3-Dihydroxy-2-propanone phosphate
  • 1,3-Dihydroxyacetone 1-phosphate
  • 1-Hydroxy-3-(phosphonooxy)-2-Propanone
  • 1-Hydroxy-3-(phosphonooxy)acetone
57-04-5
Fructose 1,6-bisphosphate
  • D-Fructose 1,6-biphosphate
  • D-Fructose 1,6-bis(dihydrogen phosphate)
  • D-Fructose 1,6-bisphosphate
  • D-Fructose 1,6-diphosphate
  • D-Fructose-1,6-bisphosphate
488-69-7
genes like me logo Genes that share compounds with ALDOB: view

Transcripts for ALDOB Gene

mRNA/cDNA for ALDOB Gene

Unigene Clusters for ALDOB Gene

Aldolase B, fructose-bisphosphate:
Representative Sequences:

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

No ASD Table

Relevant External Links for ALDOB Gene

GeneLoc Exon Structure for
ALDOB
ECgene alternative splicing isoforms for
ALDOB

Expression for ALDOB Gene

mRNA expression in normal human tissues for ALDOB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x23.0), Kidney - Cortex (x20.2), and Small Intestine - Terminal Ileum (x7.4).

Protein differential expression in normal tissues from HIPED for ALDOB Gene

This gene is overexpressed in Liver, secretome (25.4), Liver (19.0), and Kidney (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ALDOB Gene



SOURCE GeneReport for Unigene cluster for ALDOB Gene Hs.530274

genes like me logo Genes that share expression patterns with ALDOB: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ALDOB Gene

Orthologs for ALDOB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDOB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ALDOB 35
  • 92.12 (n)
  • 91.76 (a)
ALDOB 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDOB 35
  • 92.95 (n)
  • 96.15 (a)
ALDOB 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldob 35
  • 90.75 (n)
  • 95.88 (a)
Aldob 16
Aldob 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDOB 35
  • 99.73 (n)
  • 99.73 (a)
ALDOB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldob 35
  • 89.84 (n)
  • 96.15 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ALDOB 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALDOB 35
  • 75.55 (n)
  • 80.77 (a)
ALDOB 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDOB 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldob 35
  • 68.32 (n)
  • 74.18 (a)
zebrafish
(Danio rerio)
Actinopterygii aldob 35
  • 71.06 (n)
  • 76.1 (a)
aldob 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ald 37
  • 64 (a)
CG5432 37
  • 51 (a)
Ald 36
  • 63 (a)
ManyToMany
CG5432 36
  • 51 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F01F1.12a 37
  • 59 (a)
F01F1.12b 37
  • 59 (a)
T05D4.1 37
  • 58 (a)
aldo-1 36
  • 59 (a)
ManyToMany
aldo-2 36
  • 60 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.13172 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11039 36
  • 64 (a)
OneToMany
Species with no ortholog for ALDOB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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 ALDOB Gene

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

Paralogs for ALDOB Gene

Paralogs for ALDOB Gene

(2) SIMAP similar genes for ALDOB Gene using alignment to 2 proteins:

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

Variants for ALDOB Gene

Sequence variations from dbSNP and Humsavar for ALDOB Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_000551 Hereditary fructose intolerance (HFI)
VAR_000552 -
rs1800546 Hereditary fructose intolerance (HFI) 101,427,574(+) GGCGT(C/G)CTGTG reference, missense
rs76917243 Hereditary fructose intolerance (HFI) 101,427,498(+) TGCTG(G/T)CGTAG reference, missense
VAR_000555 Hereditary fructose intolerance (HFI)

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

Variant ID Type Subtype PubMed ID
nsv893626 CNV Loss 21882294
nsv523287 CNV Loss 19592680

Variation tolerance for ALDOB Gene

Residual Variation Intolerance Score: 46.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDOB Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDOB Gene

Disorders for ALDOB Gene

MalaCards: The human disease database

(13) MalaCards diseases for ALDOB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fructose intolerance
  • hereditary fructose intolerance syndrome
posterior myocardial infarction
  • posterior myocardial infarction nos
fructose-1,6-bisphosphatase deficiency
  • fructose 1 phosphate aldolase deficiency
lactose intolerance
  • lm - lactose malabsorption
tropical sprue
  • sprue - tropical
- elite association - COSMIC cancer census association via MalaCards
Search ALDOB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALDOB_HUMAN
  • Hereditary fructose intolerance (HFI) [MIM:229600]: Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life. {ECO:0000269 PubMed:10024431, ECO:0000269 PubMed:10970798, ECO:0000269 PubMed:12205126, ECO:0000269 PubMed:15532022, ECO:0000269 PubMed:15880727, ECO:0000269 PubMed:1967768, ECO:0000269 PubMed:20848650, ECO:0000269 PubMed:2336380, ECO:0000269 PubMed:3383242, ECO:0000269 PubMed:8162030, ECO:0000269 PubMed:8299883}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ALDOB Gene

fructose intolerance,hereditary,characterized by vomiting,nausea,sweating associated with hypoglycemia and metabolic acidosis after exposure ef dietary fructose after weaning,leading to chronic toxicity and cirrhosis of liver in case of persistent intake

Relevant External Links for ALDOB

Genetic Association Database (GAD)
ALDOB
Human Genome Epidemiology (HuGE) Navigator
ALDOB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDOB
genes like me logo Genes that share disorders with ALDOB: view

Publications for ALDOB Gene

  1. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (PMID: 15880727) Santer R. … Schneppenheim R. (Hum. Mutat. 2005) 3 4 23 67
  2. The biochemical basis of hereditary fructose intolerance. (PMID: 20162364) Bouteldja N. … Timson D.J. (J. Inherit. Metab. Dis. 2010) 3 23
  3. Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (PMID: 20033295) Coffee E.M. … Tolan D.R. (J. Inherit. Metab. Dis. 2010) 3 23
  4. Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. (PMID: 18541450) Davit-Spraul A. … Baussan C. (Mol. Genet. Metab. 2008) 3 23
  5. Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance. (PMID: 17292585) KriegshAouser G. … Oberkanins C. (Mol. Cell. Probes 2007) 3 23

Products for ALDOB Gene

Sources for ALDOB Gene

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