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

Gene ID: 226, updated on 5-Jan-2020

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
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:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30064279..30072207)
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 TLC domain containing 3B Neighboring gene uncharaterized LOC112694756 Neighboring gene protein phosphatase 4 catalytic subunit Neighboring gene T-box transcription factor 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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 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 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 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 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 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 
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
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

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
    17591..24038
    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, ENST00000412304.6
    Conserved Domains (1) summary
    pfam00274
    Location:15364
    Glycolytic; Fructose-bisphosphate aldolase class-I
  2. NM_001243177.3NP_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/Swiss-Prot
    P04075
    Related
    ENSP00000496166.1, ENST00000642816.2
    Conserved Domains (1) summary
    pfam00274
    Location:69418
    Glycolytic; Fructose-bisphosphate aldolase class-I
  3. NM_184041.4NP_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)
    AC093512, BC010660, DA138954
    Consensus CDS
    CCDS10668.1
    UniProtKB/Swiss-Prot
    P04075
    UniProtKB/TrEMBL
    V9HWN7
    Related
    ENSP00000494188.1, ENST00000643777.2
    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, ENST00000563060.6
    Conserved Domains (1) summary
    pfam00274
    Location:15364
    Glycolytic; Fructose-bisphosphate aldolase class-I

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    30064279..30072207
    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.
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