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    ALDOA aldolase, fructose-bisphosphate A [ Homo sapiens (human) ]

    Gene ID: 226, updated on 10-Dec-2017
    Official Symbol
    ALDOAprovided by HGNC
    Official Full Name
    aldolase, fructose-bisphosphate Aprovided by HGNC
    Primary source
    HGNC:HGNC:414
    See related
    Ensembl:ENSG00000149925 MIM:103850; Vega:OTTHUMG00000132107
    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
    ALDA; GSD12; HEL-S-87p
    Summary
    This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]
    Expression
    Ubiquitous expression in heart (RPKM 290.3), esophagus (RPKM 221.3) and 25 other tissues See more
    Orthologs
    Location:
    16p11.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (30053090..30070420)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30064411..30081741)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene INO80 complex subunit E Neighboring gene double C2 domain alpha Neighboring gene chromosome 16 open reading frame 92 Neighboring gene family with sequence similarity 57 member B Neighboring gene protein phosphatase 4 catalytic subunit Neighboring gene T-box 6

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    HNSHA due to aldolase A deficiency
    MedGen: C0272066 OMIM: 611881 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of aldolase A (ALDOA) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human aldolase A, fructose-bisphosphate (ALDOA) at amino acid residues 32-33 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
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      Fructose and mannose metabolism, organism-specific biosystem
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    • Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystem (from KEGG)
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    • Glycolysis, organism-specific biosystem (from REACTOME)
      Glycolysis, organism-specific biosystemThe reactions of glycolysis (e.g., van Wijk and van Solinge 2005) convert glucose 6-phosphate to pyruvate. The entire process is cytosolic. Glucose 6-phosphate is reversibly isomerized to form fructo...
    • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystem (from KEGG)
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    • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
      Glycolysis and Gluconeogenesis, organism-specific biosystemGlycolysis is the metabolic pathway that converts glucose C6H12O6, into pyruvate, CH3COCOO? + H+. The free energy released in this process is used to form the ATP and NADH. Gluconeogenesis is a metab...
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      HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
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      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
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      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
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      Metabolic pathways, organism-specific biosystem
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      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
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      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC10942, MGC17716, MGC17767

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeletal protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fructose binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fructose-bisphosphate aldolase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    fructose-bisphosphate aldolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tubulin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin filament organization TAS
    Traceable Author Statement
    more info
    PubMed 
    binding of sperm to zona pellucida IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    canonical glycolysis TAS
    Traceable Author Statement
    more info
     
    fructose 1,6-bisphosphate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fructose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    protein homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cell shape IDA
    Inferred from Direct Assay
    more info
    PubMed 
    striated muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    I band TAS
    Traceable Author Statement
    more info
    PubMed 
    M band IEA
    Inferred from Electronic Annotation
    more info
     
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    sperm head IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    fructose-bisphosphate aldolase A
    Names
    aldolase A, fructose-bisphosphate
    epididymis secretory sperm binding protein Li 87p
    fructose-1,6-bisphosphate triosephosphate-lyase
    lung cancer antigen NY-LU-1
    muscle-type aldolase
    NP_000025.1
    NP_001121089.1
    NP_001230106.1
    NP_908930.1
    NP_908932.1
    XP_011544070.1

    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_008010.1 RefSeqGene

      Range
      17504..22251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000034.3NP_000025.1  fructose-bisphosphate aldolase A isoform 1

      See identical proteins and their annotated locations for NP_000025.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 2, 3, 4, 7, 8, 9, and 10 encode the same isoform.
      Source sequence(s)
      BC004333, BU855133, DB057572
      Consensus CDS
      CCDS10668.1
      UniProtKB/Swiss-Prot
      P04075
      UniProtKB/TrEMBL
      V9HWN7
      Related
      ENSP00000336927.5, OTTHUMP00000255843, ENST00000338110.9, OTTHUMT00000435359
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    2. NM_001127617.2NP_001121089.1  fructose-bisphosphate aldolase A isoform 1

      See identical proteins and their annotated locations for NP_001121089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 2, 3, 4, 7, 8, 9, and 10 encode the same isoform (1).
      Source sequence(s)
      BU855133, BX647566, DA899482
      Consensus CDS
      CCDS10668.1
      UniProtKB/Swiss-Prot
      P04075
      UniProtKB/TrEMBL
      V9HWN7
      Related
      ENSP00000400452.2, OTTHUMP00000255849, ENST00000412304.6, OTTHUMT00000435370
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    3. NM_001243177.1NP_001230106.1  fructose-bisphosphate aldolase A isoform 2

      See identical proteins and their annotated locations for NP_001230106.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (2) is longer at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK301993, BU855133, DA138954
      Consensus CDS
      CCDS58450.1
      UniProtKB/Swiss-Prot
      P04075
      Related
      ENSP00000457468.2, OTTHUMP00000255855, ENST00000564595.6, OTTHUMT00000435377
      Conserved Domains (1) summary
      pfam00274
      Location:69418
      Glycolytic; Fructose-bisphosphate aldolase class-I
    4. NM_001355562.1NP_001342491.1  fructose-bisphosphate aldolase A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AK098778, BM907525, DB057572
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    5. NM_001355563.1NP_001342492.1  fructose-bisphosphate aldolase A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093512
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    6. NM_001355564.1NP_001342493.1  fructose-bisphosphate aldolase A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093512
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    7. NM_001355565.1NP_001342494.1  fructose-bisphosphate aldolase A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093512
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    8. NM_184041.2NP_908930.1  fructose-bisphosphate aldolase A isoform 1

      See identical proteins and their annotated locations for NP_908930.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      BC010660, BU855133, DA138954
      Consensus CDS
      CCDS10668.1
      UniProtKB/Swiss-Prot
      P04075
      UniProtKB/TrEMBL
      V9HWN7
      Related
      ENSP00000455917.1, OTTHUMP00000162983, ENST00000564546.5, OTTHUMT00000255145
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I
    9. NM_184043.2NP_908932.1  fructose-bisphosphate aldolase A isoform 1

      See identical proteins and their annotated locations for NP_908932.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 2, 3, 4, 7, 8, 9, and 10 encode the same isoform (1).
      Source sequence(s)
      BC013614, BU855133, CB151262, DA564075
      Consensus CDS
      CCDS10668.1
      UniProtKB/Swiss-Prot
      P04075
      UniProtKB/TrEMBL
      V9HWN7
      Related
      ENSP00000455800.2, OTTHUMP00000255848, ENST00000563060.6, OTTHUMT00000435368
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      30053090..30070420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545768.2XP_011544070.1  fructose-bisphosphate aldolase A isoform X1

      UniProtKB/Swiss-Prot
      P04075
      UniProtKB/TrEMBL
      V9HWN7
      Related
      ENSP00000455724.1, OTTHUMP00000255844, ENST00000566897.5, OTTHUMT00000435360
      Conserved Domains (1) summary
      pfam00274
      Location:15364
      Glycolytic; Fructose-bisphosphate aldolase class-I

    RNA

    1. XR_001751871.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      31280168..31297498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001243175.1: Suppressed sequence

      Description
      NM_001243175.1: This RefSeq was permanently suppressed because it contains an upstream ORF that renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
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