ALDOB aldolase, fructose-bisphosphate B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALDOBprovided by HGNC
Official Full Name: aldolase, fructose-bisphosphate Bprovided by HGNC
Primary source: HGNC:HGNC:417
See related: Ensembl:ENSG00000136872 MIM:612724; AllianceGenome:HGNC:417
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALDB; ALDO2
Summary: 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]
Expression: Biased expression in kidney (RPKM 2378.7), small intestine (RPKM 1833.7) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (101420560..101435774, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (113592536..113607747, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (104182842..104198056, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population.
Title: Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population.
Aldolase B-driven lactagenesis and CEACAM6 activation promote cell renewal and chemoresistance in colorectal cancer through the Warburg effect.
Title: Aldolase B-driven lactagenesis and CEACAM6 activation promote cell renewal and chemoresistance in colorectal cancer through the Warburg effect.
Metabolic classification suggests the GLUT1/ALDOB/G6PD axis as a therapeutic target in chemotherapy-resistant pancreatic cancer.
Title: Metabolic classification suggests the GLUT1/ALDOB/G6PD axis as a therapeutic target in chemotherapy-resistant pancreatic cancer.
Aldolase B suppresses hepatocellular carcinogenesis by inhibiting G6PD and pentose phosphate pathways.
Title: Aldolase B suppresses hepatocellular carcinogenesis by inhibiting G6PD and pentose phosphate pathways.
downregulation of aldolase B and accumulation of fructose 1,6-bisphosphate promote clear cell renal cell carcinoma growth by counteracting oxidative stress
Title: Accumulation of fructose 1,6-bisphosphate protects clear cell renal cell carcinoma from oxidative stress.
high ALDOB expression impairs DNA mismatch repair and induces apoptosis in colon adenocarcinoma
Title: Aldolase B impairs DNA mismatch repair and induces apoptosis in colon adenocarcinoma.
ALDOB knockdown or dietary fructose restriction suppresses growth of colorectal cancer (CRC) liver metastases, but not primary tumors or lung metastases, highlighting the importance of tumor microenvironment.
Title: Aldolase B-Mediated Fructose Metabolism Drives Metabolic Reprogramming of Colon Cancer Liver Metastasis.
Differential gene expression between islets from normoglycemic and hyperglycemic patients was prominent for the glycolytic enzyme ALDOB, mRNA level of ALDOB correlated negatively with insulin secretion and positively with HbA1c. The minor allele of the ALDOB variant rs550915 associated with significantly higher levels of C-peptide and insulin during oral glucose tolerance test and hyperglycemic clamp, respectively.
Title: The Expression of Aldolase B in Islets Is Negatively Associated With Insulin Secretion in Humans.
Silencing Aldolase B activated epithelial markers and repressed mesenchymal markers, indicating inactivation of Aldolase B may lead to inhibition of epithelial-mesenchymal transition
Title: Aldolase B Overexpression is Associated with Poor Prognosis and Promotes Tumor Progression by Epithelial-Mesenchymal Transition in Colorectal Adenocarcinoma.
The downregulation of ALDOB could indicate a poor prognosis for HCC patients, and therefore, ALDOB might be considered a prognostic biomarker for HCC, especially at the early stage.
Title: Aldolase B inhibits metastasis through Ten-Eleven Translocation 1 and serves as a prognostic biomarker in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary fructosuria MedGen: C0016751 OMIM: 229600 GeneReviews: Hereditary Fructose Intolerance	Compare labs

EBI GWAS Catalog

Description
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:374776 (e-PCR)
- UniSTS:156961

RH46544 (e-PCR)
- UniSTS:66109

D9S1710 (e-PCR)
- UniSTS:60224

G54142 (e-PCR)
- UniSTS:109379

RH103288 (e-PCR)
- UniSTS:97619

RH11595 (e-PCR)
- UniSTS:67180

GDB:198061 (e-PCR)
- UniSTS:156012

GDB:181545 (e-PCR)
- UniSTS:155271

G44329 (e-PCR)
- UniSTS:95118

GDB:181596 (e-PCR)
- UniSTS:155303

G60287 (e-PCR)
- UniSTS:137392

STS-T50700 (e-PCR)
- UniSTS:42673

GDB:188697 (e-PCR)
- UniSTS:155576

G31116 (e-PCR)
- UniSTS:79089

ALDOB-1 (e-PCR)
- UniSTS:509937

RH80895 (e-PCR)
- UniSTS:87027

D9S2043 (e-PCR)
- UniSTS:36853

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal protein binding	IDA Inferred from Direct Assay more info	PubMed
enables fructose binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables fructose-1-phosphate aldolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fructose-1-phosphate aldolase activity	IDA Inferred from Direct Assay more info	PubMed
enables fructose-bisphosphate aldolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fructose-bisphosphate aldolase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in NADH oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in fructose 1,6-bisphosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 1,6-bisphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate	IEA Inferred from Electronic Annotation more info
involved_in fructose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gluconeogenesis	IEA Inferred from Electronic Annotation more info
involved_in glycolytic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycolytic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycolytic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of pentose-phosphate shunt	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ATP-dependent activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in vacuolar proton-transporting V-type ATPase complex assembly	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fructose-bisphosphate aldolase B

Names: aldolase 2; aldolase B, fructose-bisphosphatase; aldolase B, fructose-bisphosphate; liver-type aldolase

NP_000026.2

EC 4.1.2.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.