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

Gene ID: 226, updated on 3-Nov-2024

Summary

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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; AllianceGenome:HGNC:414
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
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Genomic context

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See ALDOA in Genome Data Viewer
Location:
16p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30064279..30070420)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30346925..30353065)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30075600..30081741)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene INO80 complex subunit E Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7347 Neighboring gene double C2 domain alpha Neighboring gene chromosome 16 open reading frame 92 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30039801-30040645 Neighboring gene TLC domain containing 3B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7348 Neighboring gene MPRA-validated peak2562 silencer Neighboring gene uncharaterized LOC112694756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30064875-30065853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30065854-30066831 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30076132-30076912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10689 Neighboring gene protein phosphatase 4 catalytic subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30096821-30096985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30101709-30102582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7352 Neighboring gene T-box transcription factor 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Kishi H, et al. Proc Natl Acad Sci U S A, 1987 Dec. PMID 2825199, Free PMC Article
  2. Aldolase A Enhances Intrahepatic Cholangiocarcinoma Proliferation and Invasion through Promoting Glycolysis. Li X, et al. Int J Biol Sci, 2021. PMID 33994862, Free PMC Article
  3. Quantitative expression studies of aldolase A, B and C genes in developing embryos and adult tissues of Xenopus laevis. Kajita E, et al. Mech Dev, 2001 Apr. PMID 11287212
  4. An additional promoter functions in the human aldolase A gene, but not in rat. Mukai T, et al. Eur J Biochem, 1991 Feb 14. PMID 1999195
  5. Activity and specificity of human aldolases. Gamblin SJ, et al. J Mol Biol, 1991 Jun 20. PMID 2056525

See all (316) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA ACVR2B-as1 interacts with ALDOA to regulate the self-renewal and apoptosis of human spermatogonial stem cells by controlling glycolysis activity.
    Title: LncRNA ACVR2B-as1 interacts with ALDOA to regulate the self-renewal and apoptosis of human spermatogonial stem cells by controlling glycolysis activity.
  2. The POU2F1-ALDOA axis promotes the proliferation and chemoresistance of colon cancer cells by enhancing glycolysis and the pentose phosphate pathway activity.
    Title: The POU2F1-ALDOA axis promotes the proliferation and chemoresistance of colon cancer cells by enhancing glycolysis and the pentose phosphate pathway activity.
  3. ALDOA coordinates PDE3A through the beta-catenin/ID3 axis to stimulate cancer metastasis and M2 polarization in lung cancer with EGFR mutations.
    Title: ALDOA coordinates PDE3A through the β-catenin/ID3 axis to stimulate cancer metastasis and M2 polarization in lung cancer with EGFR mutations.
  4. Aldolase A promotes cervical cancer cell radioresistance by regulating the glycolysis and DNA damage after irradiation.
    Title: Aldolase A promotes cervical cancer cell radioresistance by regulating the glycolysis and DNA damage after irradiation.
  5. Correlations of ALD, Keap-1, and FoxO4 expression with traditional tumor markers and clinicopathological characteristics in colorectal carcinoma.
    Title: Correlations of ALD, Keap-1, and FoxO4 expression with traditional tumor markers and clinicopathological characteristics in colorectal carcinoma.
  6. The role of fructose 1,6-bisphosphate-mediated glycolysis/gluconeogenesis genes in cancer prognosis.
    Title: The role of fructose 1,6-bisphosphate-mediated glycolysis/gluconeogenesis genes in cancer prognosis.
  7. Aldolase A Enhances Intrahepatic Cholangiocarcinoma Proliferation and Invasion through Promoting Glycolysis.
    Title: Aldolase A Enhances Intrahepatic Cholangiocarcinoma Proliferation and Invasion through Promoting Glycolysis.
  8. Substitutions at a rheostat position in human aldolase A cause a shift in the conformational population.
    Title: Substitutions at a rheostat position in human aldolase A cause a shift in the conformational population.
  9. Loss-of-Function Genetic Screening Identifies Aldolase A as an Essential Driver for Liver Cancer Cell Growth Under Hypoxia.
    Title: Loss-of-Function Genetic Screening Identifies Aldolase A as an Essential Driver for Liver Cancer Cell Growth Under Hypoxia.
  10. A novel lncRNA ARST represses glioma progression by inhibiting ALDOA-mediated actin cytoskeleton integrity.
    Title: A novel lncRNA ARST represses glioma progression by inhibiting ALDOA-mediated actin cytoskeleton integrity.
Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
HNSHA due to aldolase A deficiency
MedGen: C0272066 OMIM: 611881 GeneReviews: Not available
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EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC10942, MGC17716, MGC17767

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables actin binding TAS
Traceable Author Statement
more info
 PubMed 
enables cadherin binding HDA PubMed 
enables cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables fructose binding 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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables tubulin binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in ATP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in actin filament organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in binding of sperm to zona pellucida IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in fructose 1,6-bisphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fructose 1,6-bisphosphate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fructose metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycolytic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycolytic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycolytic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in muscle cell cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein homotetramerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cell shape IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in striated muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in I band TAS
Traceable Author Statement
more info
 PubMed 
located_in M band IEA
Inferred from Electronic Annotation
more info
  
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in nucleus HDA PubMed 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
  
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  
located_in sperm head IDA
Inferred from Direct Assay
more info
 PubMed 
located_in tertiary granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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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

NCBI Reference Sequences (RefSeq)

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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
    17591..22245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1180

mRNA and Protein(s)

  1. NM_001127617.2 → NP_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
    B4DXI7, P04075, Q6FH76, Q6FI10, Q96B15, Q9BWD9, Q9UCN2
    UniProtKB/TrEMBL
    J3KPS3, V9HWN7
    Related
    ENSP00000400452.2, ENST00000412304.6
    Conserved Domains (1) summary
    pfam00274
    Location:15 → 364
    Glycolytic; Fructose-bisphosphate aldolase class-I

  2. NM_001243177.4 → NP_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)
    AC093512, AK301993, DA138954
    Consensus CDS
    CCDS58450.1
    UniProtKB/TrEMBL
    J3KPS3
    Related
    ENSP00000496166.1, ENST00000642816.3
    Conserved Domains (1) summary
    pfam00274
    Location:69 → 418
    Glycolytic; Fructose-bisphosphate aldolase class-I

  3. NM_184041.5 → NP_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, DA138954
    Consensus CDS
    CCDS10668.1
    UniProtKB/Swiss-Prot
    B4DXI7, P04075, Q6FH76, Q6FI10, Q96B15, Q9BWD9, Q9UCN2
    UniProtKB/TrEMBL
    J3KPS3, V9HWN7
    Related
    ENSP00000494188.2, ENST00000643777.4
    Conserved Domains (1) summary
    pfam00274
    Location:15 → 364
    Glycolytic; Fructose-bisphosphate aldolase class-I

  4. NM_184043.2 → NP_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
    B4DXI7, P04075, Q6FH76, Q6FI10, Q96B15, Q9BWD9, Q9UCN2
    UniProtKB/TrEMBL
    J3KPS3, V9HWN7
    Related
    ENSP00000455800.2, ENST00000563060.6
    Conserved Domains (1) summary
    pfam00274
    Location:15 → 364
    Glycolytic; Fructose-bisphosphate aldolase class-I

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    30064279..30070420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    30346925..30353065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P04075.2 GenPept UniProtKB/Swiss-Prot:P04075

Gene LinkOut

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