Details for: ALDOB

Gene ID: 229

Symbol: ALDOB

Ensembl ID: ENSG00000136872

Description: aldolase, fructose-bisphosphate B

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of exocrine pancreas (CL1001433)
    Fold Change: 44.9014
    Cell Significance Index: 22.5500
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 33.3441
    Cell Significance Index: 87.9600
  • Cell Name: kidney cortex collecting duct epithelial cell (CL1000549)
    Fold Change: 27.4330
    Cell Significance Index: 28.8800
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 25.2716
    Cell Significance Index: 191.6400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 9.3832
    Cell Significance Index: -4.4300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 9.2853
    Cell Significance Index: 156.4100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 6.4528
    Cell Significance Index: -4.3300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 4.4525
    Cell Significance Index: 128.2900
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 4.2506
    Cell Significance Index: 42.8800
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 3.6524
    Cell Significance Index: 30.7900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 3.4086
    Cell Significance Index: 269.9600
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 2.9407
    Cell Significance Index: 10.9600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.7060
    Cell Significance Index: 39.9400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.4877
    Cell Significance Index: 149.3500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.9883
    Cell Significance Index: 196.6900
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.8884
    Cell Significance Index: 10.8800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.7552
    Cell Significance Index: 190.9100
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 1.7315
    Cell Significance Index: 4.4000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.5351
    Cell Significance Index: 25.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.4182
    Cell Significance Index: 1280.5300
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 1.2729
    Cell Significance Index: 3.4100
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.1514
    Cell Significance Index: 11.3600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9221
    Cell Significance Index: 182.9900
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.8357
    Cell Significance Index: 3.2000
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.8221
    Cell Significance Index: 2.8600
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.7448
    Cell Significance Index: 5.8800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7227
    Cell Significance Index: 49.9800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6955
    Cell Significance Index: 132.3500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.6719
    Cell Significance Index: 14.3100
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.5894
    Cell Significance Index: 2.2200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.5368
    Cell Significance Index: 61.2800
  • Cell Name: colonocyte (CL1000347)
    Fold Change: 0.3552
    Cell Significance Index: 2.2000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.3192
    Cell Significance Index: 2.4400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3183
    Cell Significance Index: 54.3500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2644
    Cell Significance Index: 9.2900
  • Cell Name: urothelial cell (CL0000731)
    Fold Change: 0.2323
    Cell Significance Index: 1.6200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.1618
    Cell Significance Index: 1.6800
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.1299
    Cell Significance Index: 1.2400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.1055
    Cell Significance Index: 65.9000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0925
    Cell Significance Index: 67.8000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0765
    Cell Significance Index: 5.8700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0687
    Cell Significance Index: 1.8400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0653
    Cell Significance Index: 13.1100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0621
    Cell Significance Index: 2.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0567
    Cell Significance Index: 2.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0363
    Cell Significance Index: 2.4400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0362
    Cell Significance Index: 4.1500
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0332
    Cell Significance Index: 1.0500
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.0262
    Cell Significance Index: 0.2700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0159
    Cell Significance Index: 0.2400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0122
    Cell Significance Index: 4.3700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0078
    Cell Significance Index: 0.2500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0063
    Cell Significance Index: 0.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0042
    Cell Significance Index: 1.2100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0009
    Cell Significance Index: 1.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0006
    Cell Significance Index: 0.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0004
    Cell Significance Index: -0.2000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0005
    Cell Significance Index: -1.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0007
    Cell Significance Index: -0.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0007
    Cell Significance Index: -1.3900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0017
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0025
    Cell Significance Index: -0.5200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0036
    Cell Significance Index: -0.0900
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: -0.0054
    Cell Significance Index: -0.0400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0055
    Cell Significance Index: -3.0200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0066
    Cell Significance Index: -0.3300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0082
    Cell Significance Index: -0.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0085
    Cell Significance Index: -0.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0116
    Cell Significance Index: -0.5300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0117
    Cell Significance Index: -5.3000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0118
    Cell Significance Index: -7.5000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0120
    Cell Significance Index: -0.2600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0124
    Cell Significance Index: -1.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0182
    Cell Significance Index: -2.5000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0244
    Cell Significance Index: -3.0000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0280
    Cell Significance Index: -5.0500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0287
    Cell Significance Index: -1.7600
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: -0.0306
    Cell Significance Index: -0.2800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0335
    Cell Significance Index: -3.4900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0402
    Cell Significance Index: -1.6500
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.0443
    Cell Significance Index: -0.2800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0445
    Cell Significance Index: -6.4700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0466
    Cell Significance Index: -1.3000
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0477
    Cell Significance Index: -0.4300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0501
    Cell Significance Index: -0.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0515
    Cell Significance Index: -2.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0535
    Cell Significance Index: -3.0000
  • Cell Name: stem cell (CL0000034)
    Fold Change: -0.0564
    Cell Significance Index: -0.4100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0567
    Cell Significance Index: -1.4200
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0609
    Cell Significance Index: -0.8500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0623
    Cell Significance Index: -0.9200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0662
    Cell Significance Index: -1.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0663
    Cell Significance Index: -6.7700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0682
    Cell Significance Index: -2.3900
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0703
    Cell Significance Index: -0.7700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0719
    Cell Significance Index: -2.2900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0721
    Cell Significance Index: -1.5100
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: -0.0742
    Cell Significance Index: -0.5400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0748
    Cell Significance Index: -2.4500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0781
    Cell Significance Index: -4.1000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** Aldolase B exhibits the following key characteristics: 1. **Aldolase activity**: The enzyme catalyzes the conversion of fructose-1,6-bisphosphate to glyceraldehyde-3-phosphate and dihydroxyacetone phosphate. 2. **Fructose-binding specificity**: Aldolase B has a high affinity for fructose-1,6-bisphosphate, making it a key regulatory point in the glycolytic pathway. 3. **Thermodynamic favorability**: The reaction catalyzed by aldolase B is thermodynamically favorable, indicating that it is a highly efficient enzyme. 4. **Regulatory mechanisms**: Aldolase B is subject to various regulatory mechanisms, including allosteric control, phosphorylation, and dephosphorylation, which modulate its activity in response to changes in cellular metabolism. **Pathways and Functions** Aldolase B plays a central role in several metabolic pathways, including: 1. **Glycolysis**: Aldolase B is a key enzyme in the glycolytic pathway, which generates energy for the cell through the breakdown of glucose. 2. **Fructose catabolism**: The enzyme is responsible for the conversion of fructose-1,6-bisphosphate to glyceraldehyde-3-phosphate and dihydroxyacetone phosphate, which are then used to generate energy or synthesize glucose. 3. **Gluconeogenesis**: Aldolase B is involved in the generation of glucose from non-carbohydrate sources, such as amino acids and lactate. 4. **Pentose-phosphate pathway**: The enzyme is also subject to regulation by the pentose-phosphate pathway, which generates NADPH and pentoses from glucose-6-phosphate. **Clinical Significance** Mutations in the ALDOB gene have been associated with: 1. **Hereditary fructose intolerance (HFI)**: A rare genetic disorder characterized by an inability to metabolize fructose due to the deficiency of aldolase B. 2. **Fructose metabolism disorders**: Aldolase B deficiency can lead to impaired fructose metabolism, resulting in symptoms such as hypoglycemia, lactic acidosis, and liver dysfunction. 3. **Glycolytic disorders**: Mutations in the ALDOB gene can also lead to impaired glycolysis, resulting in symptoms such as lactic acidosis and hypoglycemia. 4. **Cancer research**: Aldolase B has been identified as a potential target for cancer therapy, as it is overexpressed in certain types of cancer, such as hepatocellular carcinoma. In conclusion, aldolase B plays a crucial role in glucose metabolism, and its deficiency can lead to various metabolic disorders. Further research on the ALDOB gene and its encoded enzyme is necessary to fully understand its role in human health and disease.

Genular Protein ID: 3655984182

Symbol: ALDOB_HUMAN

Name: Fructose-bisphosphate aldolase B

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 6548561

Title: Isolation and nucleotide sequence of a full-length cDNA coding for aldolase B from human liver.

PubMed ID: 6548561

DOI: 10.1093/nar/12.19.7401

PubMed ID: 2410860

Title: Human aldolase isozyme gene: the structure of multispecies aldolase B mRNAs.

PubMed ID: 2410860

DOI: 10.1093/nar/13.14.5055

PubMed ID: 6585824

Title: Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.

PubMed ID: 6585824

DOI: 10.1073/pnas.81.9.2738

PubMed ID: 2830249

Title: Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple polyadenylations.

PubMed ID: 2830249

DOI: 10.1093/oxfordjournals.jbchem.a122142

PubMed ID: 3016456

Title: Characterization of the human aldolase B gene.

PubMed ID: 3016456

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 2649152

Title: Construction and expression of human aldolase A and B expression plasmids in Escherichia coli host.

PubMed ID: 2649152

DOI: 10.1016/0167-4781(89)90156-5

PubMed ID: 6689266

Title: Nucleotide sequence of a cDNA clone for human aldolase B.

PubMed ID: 6689266

DOI: 10.1016/0006-291x(83)91243-3

PubMed ID: 18000879

Title: Novel interaction partners of Bardet-Biedl syndrome proteins.

PubMed ID: 18000879

DOI: 10.1002/cm.20250

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 35122041

Title: Aldolase B suppresses hepatocellular carcinogenesis by inhibiting G6PD and pentose phosphate pathways.

PubMed ID: 35122041

DOI: 10.1038/s43018-020-0086-7

PubMed ID: 11679716

Title: The structure of human liver fructose-1,6-bisphosphate aldolase.

PubMed ID: 11679716

DOI: 10.1107/s0907444901012719

PubMed ID: 8535439

Title: Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

PubMed ID: 8535439

DOI: 10.1002/humu.1380060303

PubMed ID: 3383242

Title: Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

PubMed ID: 3383242

DOI: 10.1016/s0092-8674(88)90349-2

PubMed ID: 1967768

Title: Molecular analysis of aldolase B genes in hereditary fructose intolerance.

PubMed ID: 1967768

DOI: 10.1016/0140-6736(90)90603-3

PubMed ID: 8299883

Title: A partially active mutant aldolase B from a patient with hereditary fructose intolerance.

PubMed ID: 8299883

DOI: 10.1096/fasebj.8.1.8299883

PubMed ID: 7717389

Title: Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.

PubMed ID: 7717389

PubMed ID: 8162030

Title: Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.

PubMed ID: 8162030

DOI: 10.1093/hmg/3.1.203

PubMed ID: 2336380

Title: A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.

PubMed ID: 2336380

DOI: 10.1093/nar/18.7.1925

PubMed ID: 10024431

Title: Screening for hereditary fructose intolerance mutations by reverse dot-blot.

PubMed ID: 10024431

DOI: 10.1006/mcpr.1998.0208

PubMed ID: 10970798

Title: Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.

PubMed ID: 10970798

DOI: 10.1042/bj3500823

PubMed ID: 12205126

Title: Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.

PubMed ID: 12205126

DOI: 10.1136/jmg.39.9.e56

PubMed ID: 15532022

Title: Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

PubMed ID: 15532022

DOI: 10.1002/humu.9290

PubMed ID: 15880727

Title: The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

PubMed ID: 15880727

DOI: 10.1002/humu.9343

PubMed ID: 20848650

Title: Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

PubMed ID: 20848650

DOI: 10.1002/humu.21359

Sequence Information:

  • Length: 364
  • Mass: 39473
  • Checksum: DCE314E7AC5586CA
  • Sequence:
  • MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR 
    EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN 
    KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LARYASICQQ 
    NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC 
    TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF 
    SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMANCQAAK GQYVHTGSSG AASTQSLFTA 
    CYTY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.