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

Summary

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
Aldolase A Enhances Intrahepatic Cholangiocarcinoma Proliferation and Invasion through Promoting Glycolysis.
Title: Aldolase A Enhances Intrahepatic Cholangiocarcinoma Proliferation and Invasion through Promoting Glycolysis.
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.
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.
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	not available

EBI GWAS Catalog

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

Variation

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See Variation Viewer (GRCh37.p13)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47250 (e-PCR)
- UniSTS:89094

RH67859 (e-PCR)
- UniSTS:89367

D10S1286E (e-PCR)
- UniSTS:151321

D16S2545E (e-PCR)
- UniSTS:151634

D10S2367 (e-PCR)
- UniSTS:9614

RH80798 (e-PCR)
- UniSTS:86437

GDB:451697 (e-PCR)
- UniSTS:157349

hsaldoa (e-PCR)
- UniSTS:86225

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables actin binding	TAS Traceable Author Statement more info	PubMed
enables cadherin binding	HDA more info	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 more info	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 more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nucleus	HDA more info	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

EC 4.1.2.13

NP_001230106.1

EC 4.1.2.13

NP_908930.1

EC 4.1.2.13

NP_908932.1

EC 4.1.2.13

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

NG_008010.1 RefSeqGene

Range

17591..22245

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1180

mRNA and Protein(s)

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
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
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
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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

30064279..30070420

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_000034.3: Suppressed sequence

Description

NM_000034.3: This RefSeq was removed because the transcript represents a separate adjacent gene.
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).
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.
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.
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.
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.