ALDOA

Protein identityUniProt · HPA

UniProt accession

P04075

Gene

ALDOA

Ensembl

ENSG00000149925

Chromosome

16

Canonical length

364 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

364 residues, UniProt reviewed canonical sequence.

>P04075|ALDOA
     1  MPYQYPALTP EQKKELSDIA HRIVAPGKGI LAADESTGSI AKRLQSIGTE NTEENRRFYR
    61  QLLLTADDRV NPCIGGVILF HETLYQKADD GRPFPQVIKS KGGVVGIKVD KGVVPLAGTN
   121  GETTTQGLDG LSERCAQYKK DGADFAKWRC VLKIGEHTPS ALAIMENANV LARYASICQQ
   181  NGIVPIVEPE ILPDGDHDLK RCQYVTEKVL AAVYKALSDH HIYLEGTLLK PNMVTPGHAC
   241  TQKFSHEEIA MATVTALRRT VPPAVTGITF LSGGQSEEEA SINLNAINKC PLLKPWALTF
   301  SYGRALQASA LKAWGGKKEN LKAAQEEYVK RALANSLACQ GKYTPSGQAG AAASESLFVS
   361  NHAY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALDOA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

25,094 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALDOA.

Disease | AllUniProt

Conditions ALDOA is implicated in, by any mechanism.

• Glycogen storage disease 12 (GSD12) MIM:611881

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 346 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• HNSHA due to aldolase A deficiency
• Ovarian serous cystadenocarcinoma

Disease | ImmuneIEDB

Conditions an epitope on ALDOA was assayed in.

• multiple sclerosis B cell
• rheumatoid arthritis T cell
• carbamazepine allergy T cell

ReferencesPubMed · IEDB

Publications for ALDOA from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.76

gnomAD pLI

0

gnomAD missense Z

0.26

DepMap mean gene effect

-1.25

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin filament organization
• ATP biosynthetic process
• binding of sperm to zona pellucida
• canonical glycolysis
• fructose 1,6-bisphosphate metabolic process
• fructose metabolic process
• glycolytic process
• muscle cell cellular homeostasis
• positive regulation of insulin secretion involved in cellular response to glucose stimulus
• protein homotetramerization
• regulation of cell shape
• striated muscle contraction

Molecular functions

• actin binding
• cadherin binding
• cytoskeletal protein binding
• fructose binding
• fructose-bisphosphate aldolase activity
• identical protein binding
• RNA binding
• tubulin binding

Cellular components

• actin cytoskeleton
• cytosol
• extracellular exosome
• extracellular region
• extracellular space
• ficolin-1-rich granule lumen
• I band
• M band
• membrane
• nucleus
• platelet alpha granule lumen
• secretory granule lumen
• sperm head
• tertiary granule lumen

Protein domainsUniProt · Pfam · InterPro

• Fructose-bisphosphate aldolase, class-I
• Aldolase-type TIM barrel
• Fructose-bisphosphate aldolase class-I active site
• Fructose-bisphosphate aldolase class-I

KeywordsUniProt

• Acetylation
• Cytoplasm
• Glycogen storage disease
• Glycolysis
• Hereditary hemolytic anemia
• Hydroxylation
• Isopeptide bond
• Lyase
• Phosphoprotein
• Schiff base
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of ALDOA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FBP2
• SNX9
• WAS
• ALDOB
• ALDOC
• PCNA