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

Gene ID: 226, updated on 17-Aug-2018

Summary

Official Symbol
ALDOAprovided by HGNC
Official Full Name
aldolase, fructose-bisphosphate Aprovided by HGNC
Primary source
HGNC:HGNC:414
See related
Ensembl:ENSG00000149925 Ensembl:ENSG00000285043 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

Genomic context

See ALDOA in Genome Data Viewer
Location:
16p11.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from BioSystems

  • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
    Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Biosynthesis of amino acids, conserved biosystem (from KEGG)
    Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Carbon metabolism, organism-specific biosystem (from KEGG)
    Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Carbon metabolism, conserved biosystem (from KEGG)
    Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Fructose and mannose metabolism, organism-specific biosystem (from KEGG)
    Fructose and mannose metabolism, organism-specific biosystem
    Fructose and mannose metabolism
  • Fructose and mannose metabolism, conserved biosystem (from KEGG)
    Fructose and mannose metabolism, conserved biosystem
    Fructose and mannose metabolism
  • Gluconeogenesis, organism-specific biosystem (from REACTOME)
    Gluconeogenesis, organism-specific biosystemThe reactions of gluconeogenesis convert mitochondrial pyruvate to cytosolic glucose 6-phosphate which in turn can be hydrolyzed to glucose and exported from the cell. Gluconeogenesis is confined to ...
  • Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • 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)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • 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...
  • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
    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...
  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
    HIF-1-alpha transcription factor network
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    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...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    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...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    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 ...
  • Pentose phosphate pathway, organism-specific biosystem (from KEGG)
    Pentose phosphate pathway, organism-specific biosystemThe pentose phosphate pathway is a process of glucose turnover that produces NADPH as reducing equivalents and pentoses as essential parts of nucleotides. There are two different phases in the pathwa...
  • Pentose phosphate pathway, conserved biosystem (from KEGG)
    Pentose phosphate pathway, conserved biosystemThe pentose phosphate pathway is a process of glucose turnover that produces NADPH as reducing equivalents and pentoses as essential parts of nucleotides. There are two different phases in the pathwa...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • gluconeogenesis, organism-specific biosystem (from BIOCYC)
    gluconeogenesis, organism-specific biosystem
    gluconeogenesis
  • gluconeogenesis III, conserved biosystem (from BIOCYC)
    gluconeogenesis III, conserved biosystemGeneral Background Blood glucose levels in mammals are maintained during fasting by utilization of liver glycogen stores. When this reserve is depleted, glucose must be generated from non-sugar carb...
  • glycolysis, organism-specific biosystem (from BIOCYC)
    glycolysis, organism-specific biosystemGeneral Background Glycolysis is one of the oldest metabolic pathways which occurs within the cell cytosol in nearly all organisms. The free energy released by the conversion of : Glucopyranose "glu...
  • glycolysis III (from glucose), conserved biosystem (from BIOCYC)
    glycolysis III (from glucose), conserved biosystemGeneral Background Glycolysis, which was first studied as a pathway for the utilization of glucose, is one of the major pathways of central metabolism, the other two being the |FRAME:PENTOSE-P-PWY| ...
  • homolactic fermentation, conserved biosystem (from BIOCYC)
    homolactic fermentation, conserved biosystemGeneral Background Lactic acid fermentation is a process by which sugars such as glucose, fructose, and sucrose are converted into cellular energy and the metabolic byproduct lactate. It occurs in m...
  • sucrose degradation, organism-specific biosystem (from BIOCYC)
    sucrose degradation, organism-specific biosystemGeneral Background : SUCROSE "Sucrose", also known as table sugar or cane sugar, is a white crystalline odorless powder with a sweet taste, that is both an energy storage molecule and an aesthetic c...
  • sucrose degradation V (sucrose alpha-glucosidase), conserved biosystem (from BIOCYC)
    sucrose degradation V (sucrose alpha-glucosidase), conserved biosystemSucrose (table sugar) is an important dietary nutrient both as an energy storage molecule and by providing an aesthetic component to food, sweetness. Sucrose is widely produced by plants and when ing...
  • superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle, organism-specific biosystem (from BIOCYC)
    superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle, organism-specific biosystem
    superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10942, MGC17716, MGC17767

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
actin binding TAS
Traceable Author Statement
more info
PubMed 
cadherin binding HDA 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 HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nucleus HDA 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
 

General protein information

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_001121089.1
NP_001230106.1
NP_908930.1
NP_908932.1
XP_024305960.1
XP_024305961.1

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_008010.1 RefSeqGene

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

mRNA and Protein(s)

  1. 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
  2. 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, ENST00000564595.7, OTTHUMT00000435377
    Conserved Domains (1) summary
    pfam00274
    Location:69418
    Glycolytic; Fructose-bisphosphate aldolase class-I
  3. 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, ENST00000564546.6, OTTHUMT00000255145
    Conserved Domains (1) summary
    pfam00274
    Location:15364
    Glycolytic; Fructose-bisphosphate aldolase class-I
  4. 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024450193.1XP_024305961.1  fructose-bisphosphate aldolase A isoform X1

    Conserved Domains (1) summary
    pfam00274
    Location:15364
    Glycolytic; Fructose-bisphosphate aldolase class-I
  2. XM_024450192.1XP_024305960.1  fructose-bisphosphate aldolase A isoform X1

    Conserved Domains (1) summary
    pfam00274
    Location:15364
    Glycolytic; Fructose-bisphosphate aldolase class-I

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_000034.3: Suppressed sequence

    Description
    NM_000034.3: This RefSeq was removed because the transcript represents a separate adjacent gene.
  2. 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).
  3. NM_001355562.1: Suppressed sequence

    Description
    NM_001355562.1: This RefSeq was removed because it is now thought that this transcript belongs to a separate upstream gene.
  4. NM_001355563.1: Suppressed sequence

    Description
    NM_001355563.1: This RefSeq was removed because it is now thought that this transcript belongs to a separate upstream gene.
  5. NM_001355564.1: Suppressed sequence

    Description
    NM_001355564.1: This RefSeq was removed because it is now thought that this transcript belongs to a separate upstream gene.
  6. NM_001355565.1: Suppressed sequence

    Description
    NM_001355565.1: This RefSeq was removed because it is now thought that this transcript belongs to a separate upstream gene.
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