Details for: ALDOB

Gene ID: 229

Symbol: ALDOB

Ensembl ID: ENSG00000136872

Description: aldolase, fructose-bisphosphate B

Associated with

Cells (max top 100)

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

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 7.87
    Marker Score: 25,789
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 3.32
    Marker Score: 17,835
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 3.12
    Marker Score: 2,996
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.74
    Marker Score: 4,220
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 2.67
    Marker Score: 771
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 2.33
    Marker Score: 877
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.32
    Marker Score: 8,221
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 2.28
    Marker Score: 9,843
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.17
    Marker Score: 13,959
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.87
    Marker Score: 2,001
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.73
    Marker Score: 430
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.68
    Marker Score: 1,047
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.63
    Marker Score: 7,832
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 1.63
    Marker Score: 378
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.52
    Marker Score: 1,511
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 170,040
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.32
    Marker Score: 321
  • Cell Name: epithelial cell of exocrine pancreas (CL1001433)
    Fold Change: 1.32
    Marker Score: 742
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 1.28
    Marker Score: 399
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.24
    Marker Score: 1,190
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.14
    Marker Score: 2,682
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.12
    Marker Score: 766
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.03
    Marker Score: 16,113
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,820
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,044
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 459
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.96
    Marker Score: 265
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1,546
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,314
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.9
    Marker Score: 2,665
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.78
    Marker Score: 777
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.77
    Marker Score: 1,590
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.77
    Marker Score: 289
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 300
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.73
    Marker Score: 668
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2,873
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.68
    Marker Score: 392
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.64
    Marker Score: 1,867
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.62
    Marker Score: 1,182
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.61
    Marker Score: 1,296
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.61
    Marker Score: 584
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.6
    Marker Score: 234
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.57
    Marker Score: 156
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.56
    Marker Score: 388
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.56
    Marker Score: 145
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.54
    Marker Score: 1,048
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.48
    Marker Score: 1,133
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.46
    Marker Score: 101
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.44
    Marker Score: 115
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.43
    Marker Score: 427
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.43
    Marker Score: 380
  • Cell Name: epithelial fate stem cell (CL0000036)
    Fold Change: 0.42
    Marker Score: 121
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.41
    Marker Score: 194
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.39
    Marker Score: 389
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.38
    Marker Score: 205
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.38
    Marker Score: 142
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.38
    Marker Score: 275
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.37
    Marker Score: 95
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.37
    Marker Score: 4,906
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.37
    Marker Score: 138
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.37
    Marker Score: 284
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.36
    Marker Score: 166
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.36
    Marker Score: 734
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.33
    Marker Score: 474
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.33
    Marker Score: 2,219
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.33
    Marker Score: 172
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.32
    Marker Score: 248
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.32
    Marker Score: 84
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.32
    Marker Score: 239
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 0.3
    Marker Score: 85
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.3
    Marker Score: 124
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.3
    Marker Score: 359
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.29
    Marker Score: 455
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.29
    Marker Score: 308
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.28
    Marker Score: 708
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.28
    Marker Score: 84
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 0.27
    Marker Score: 72
  • Cell Name: vasa recta descending limb cell (CL1001285)
    Fold Change: 0.27
    Marker Score: 73
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.26
    Marker Score: 698
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 89
  • Cell Name: parietal cell (CL0000162)
    Fold Change: 0.25
    Marker Score: 71
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.25
    Marker Score: 225
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.25
    Marker Score: 91
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.25
    Marker Score: 71
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.25
    Marker Score: 107
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.24
    Marker Score: 672
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.23
    Marker Score: 147
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 139
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.23
    Marker Score: 241
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.23
    Marker Score: 165
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.23
    Marker Score: 138
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.22
    Marker Score: 242

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:

P05062 Q13741 Q13742 Q5T7D6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 1 CTD 1 ChEBI 9 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 1 EMBL 8 EMDB 1 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MoonDB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 4 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 4 RefSeq 1 Rhea 6 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 3 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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.