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

    Gene ID: 229, updated on 24-Nov-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
    109.20201120 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
    Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
    GeneReviews: Not available
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    GeneReviews: Not available
    Hereditary fructosuria Compare labs

    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 109.20201120

    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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