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

Gene ID: 229, updated on 28-Jun-2020

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
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

Genomic context

See ALDOB in Genome Data Viewer
Location:
9q31.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (101420560..101435774, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104182842..104198062, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L50 Neighboring gene zinc finger protein 189 Neighboring gene uncharacterized LOC105376184 Neighboring gene NFE2L2 motif-containing MPRA enhancer 257

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hereditary fructosuria Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
PubMed 
fructose binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
fructose-1-phosphate aldolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose-1-phosphate aldolase activity IDA
Inferred from Direct Assay
more info
PubMed 
fructose-bisphosphate aldolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose-bisphosphate aldolase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NADH oxidation IDA
Inferred from Direct Assay
more info
PubMed 
canonical glycolysis TAS
Traceable Author Statement
more info
 
fructose 1,6-bisphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose 1,6-bisphosphate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate TAS
Traceable Author Statement
more info
 
fructose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glycolytic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycolytic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ATPase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
vacuolar proton-transporting V-type ATPase complex assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
microtubule organizing center IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
fructose-bisphosphate aldolase B
Names
aldolase 2
aldolase B, fructose-bisphosphatase
aldolase B, fructose-bisphosphate
liver-type aldolase
NP_000026.2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012387.1 RefSeqGene

    Range
    5007..20221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1244

mRNA and Protein(s)

  1. NM_000035.4NP_000026.2  fructose-bisphosphate aldolase B

    See identical proteins and their annotated locations for NP_000026.2

    Status: REVIEWED

    Source sequence(s)
    AL353621, AW242415, X02747
    Consensus CDS
    CCDS6756.1
    UniProtKB/Swiss-Prot
    P05062
    UniProtKB/TrEMBL
    A0A024R145
    Related
    ENSP00000497767.1, ENST00000647789.2
    Conserved Domains (1) summary
    pfam00274
    Location:15364
    Glycolytic; Fructose-bisphosphate aldolase class-I

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    101420560..101435774 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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