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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TALDO1
transaldolase 1
Chromosome 11 Β· 11p15.5
NCBI Gene: 6888Ensembl: ENSG00000177156.12HGNC: HGNC:11559UniProt: A0A140VK56
116PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transaldolase activityprotein bindingpentose-phosphate shunt, non-oxidative branchnucleustransaldolase deficiencyDisorder of carbohydrate metabolismhydrops fetalisgenetic disorder
✦AI Summary

TALDO1 (transaldolase 1) catalyzes the rate-limiting step of the non-oxidative phase in the pentose phosphate pathway, converting sedheptulose-7-phosphate and D-glyceraldehyde 3-phosphate into erythrose-4-phosphate and Ξ²-D-fructose 6-phosphate 1. Beyond its classical enzymatic function, TALDO1 exhibits moonlighting properties through subcellular localization between the nucleus and cytoplasm 2. When acetylated, TALDO1 translocates to the nucleus and interacts with BRCA1 to inhibit c-Myc transcriptional activation, thereby suppressing glycolytic enzyme expression independent of its enzymatic activity 2. HDAC6-mediated deacetylation at lysine 7 reduces TALDO1 protein stability and prevents its nuclear translocation, promoting tumor progression 2. TALDO1 is clinically significant across multiple diseases: it serves as a biomarker for breast cancer metastasis 3, shows altered expression in hepatocellular carcinoma where it's epigenetically regulated by p300/CBP 4, and is decreased in AMD-associated retinal pigmented epithelial cells, contributing to mitochondrial dysfunction through reduced NADPH availability 5. The gene maps to chromosome 11.4-p15.5 6, and its expression correlates with anti-VEGF therapy response in neovascular AMD 7.

Sources cited
1
TALDO1 catalyzes conversion of sedheptulose-7-phosphate and D-glyceraldehyde 3-phosphate in pentose phosphate pathway
PMID: 38837574
2
TALDO1 has moonlighting functions including nuclear translocation and interaction with BRCA1 to regulate c-Myc
PMID: 41120289
3
HDAC6-mediated deacetylation at lysine 7 affects TALDO1 stability and promotes tumor progression
PMID: 41120289
4
TALDO1 serves as biomarker for breast cancer metastasis
PMID: 38900939
5
TALDO1 expression is epigenetically regulated by p300/CBP in hepatocellular carcinoma
PMID: 33361394
6
TALDO1 is decreased in AMD and contributes to mitochondrial dysfunction through reduced NADPH
PMID: 34313391
7
TALDO1 gene maps to chromosome 11p15.4-p15.5
PMID: 9339383
8
TALDO1 expression correlates with anti-VEGF therapy response in neovascular AMD
PMID: 39140961
Disease Associationsβ“˜21
transaldolase deficiencyOpen Targets
0.80Strong
Disorder of carbohydrate metabolismOpen Targets
0.46Moderate
hydrops fetalisOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
cataractOpen Targets
0.12Weak
microcephalyOpen Targets
0.12Weak
Severe global developmental delayOpen Targets
0.12Weak
breast cancerOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
heart failureOpen Targets
0.08Suggestive
aortic stenosisOpen Targets
0.07Suggestive
spermatogenic failure 83Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 19Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
Transaldolase deficiencyUniProt
Pathogenic Variants24
NM_006755.2(TALDO1):c.575G>A (p.Arg192His)Pathogenic
not provided|Deficiency of transaldolase
β˜…β˜…β˜†β˜†2025β†’ Residue 192
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)Pathogenic
not provided|Deficiency of transaldolase
β˜…β˜…β˜†β˜†2024β†’ Residue 192
NM_006755.2(TALDO1):c.643_644del (p.Lys215fs)Pathogenic
not provided|Deficiency of transaldolase
β˜…β˜…β˜†β˜†2024β†’ Residue 215
NM_006755.2(TALDO1):c.793del (p.Gln265fs)Pathogenic
Deficiency of transaldolase|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 265
NM_006755.2(TALDO1):c.699dup (p.Met234fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 234
NM_006755.2(TALDO1):c.222-2A>GLikely pathogenic
Thyroid cancer, nonmedullary, 1|not provided
β˜…β˜†β˜†β˜†2025
NM_006755.2(TALDO1):c.304C>T (p.Arg102Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 102
NM_006755.2(TALDO1):c.836-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_006755.2(TALDO1):c.646_647del (p.Ser216fs)Pathogenic
TALDO1-related disorder|Deficiency of transaldolase
β˜…β˜†β˜†β˜†2025β†’ Residue 216
NM_006755.2(TALDO1):c.289A>T (p.Lys97Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 97
NM_006755.2(TALDO1):c.49C>T (p.Gln17Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 17
NM_006755.2(TALDO1):c.835+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_006755.2(TALDO1):c.931G>A (p.Gly311Arg)Likely pathogenic
TALDO1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 311
NM_006755.2(TALDO1):c.98-2A>GLikely pathogenic
Deficiency of transaldolase
β˜…β˜†β˜†β˜†2023
NM_006755.2(TALDO1):c.97+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_006755.2(TALDO1):c.750dup (p.Asp251Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 251
NM_006755.2(TALDO1):c.586T>C (p.Trp196Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 196
NM_006755.2(TALDO1):c.516dup (p.Ala173fs)Pathogenic
Deficiency of transaldolase
β˜…β˜†β˜†β˜†2014β†’ Residue 173
NM_006755.2(TALDO1):c.695_696del (p.Ile232fs)Likely pathogenic
Deficiency of transaldolase
β˜…β˜†β˜†β˜†β†’ Residue 232
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)Pathogenic
Deficiency of transaldolase
β˜†β˜†β˜†β˜†2020β†’ Residue 311
View on ClinVar β†—
Related Genes
PDHA2Protein interaction100%PKLRProtein interaction100%TPI1Protein interaction100%MINPP1Protein interaction100%ENO1Protein interaction99%ENO2Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
67%
Liver
51%
Brain
43%
Heart
39%
Ovary
33%
Gene Interaction Network
Click a node to explore
TALDO1PDHA2PKLRTPI1MINPP1ENO1ENO2
PROTEIN STRUCTURE
Preparing viewer…
PDB1F05 Β· 2.45 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.56–1.01]
RankingsWhere TALDO1 stands among ~20K protein-coding genes
  • #4,098of 20,598
    Most Researched116 Β· top quartile
  • #2,012of 5,498
    Most Pathogenic Variants24
  • #9,909of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedTALDO1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Proteomic Profiling of Serum Extracellular Vesicles Identifies Diagnostic Signatures and Therapeutic Targets in Breast Cancer.
PMID: 38900939
Cancer Res Β· 2024
1.00
2
Targeting p300/CBP Attenuates Hepatocellular Carcinoma Progression through Epigenetic Regulation of Metabolism.
PMID: 33361394
Cancer Res Β· 2021
0.90
3
Panoramic comparison between NK cells in healthy and cancerous liver through single-cell RNA sequencing.
PMID: 35856557
Cancer Biol Med Β· 2022
0.80
4
The human transaldolase gene (TALDO1) is located on chromosome 11 at p15.4-p15.5.
PMID: 9339383
Genomics Β· 1997
0.70
5
Deacetylation of TALDO1 by HDAC6 promotes glycolysis and nasopharyngeal carcinoma progression through a moonlighting function.
PMID: 41120289
Cell Death Dis Β· 2025
0.60