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

    Gene ID: 229, updated on 23-Nov-2023

    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
    NEW
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    Genomic context

    See ALDOB in Genome Data Viewer
    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_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:104160013-104160542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:104160543-104161071 Neighboring gene mitochondrial ribosomal protein L50 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:104169926-104171125 Neighboring gene zinc finger protein 189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28725 Neighboring gene uncharacterized LOC105376184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20142 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:104223504-104224020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:104224021-104224537 Neighboring gene NFE2L2 motif-containing MPRA enhancer 257 Neighboring gene TMEM246 antisense RNA 1 Neighboring gene post-GPI attachment to proteins GalNAc transferase 4

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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 PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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, Q13741, Q13742, Q5T7D6
      UniProtKB/TrEMBL
      A8K430
      Related
      ENSP00000497767.1, ENST00000647789.2
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      113592536..113607747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)