TALDO1
Domain
The first 10 amino acids are essential for nuclear localization.
Function
Catalyzes the rate-limiting step of the non-oxidative phase in the pentose phosphate pathway. Catalyzes the reversible conversion of sedheptulose-7-phosphate and D-glyceraldehyde 3-phosphate into erythrose-4-phosphate and beta-D-fructose 6-phosphate (PubMed:18687684, PubMed:8955144). Not only acts as a pentose phosphate pathway enzyme, but also affects other metabolite pathways by altering its subcellular localization between the nucleus and the cytoplasm (By similarity).
Involvement in disease
Transaldolase deficiency
TALDOD
An inborn error of the pentose phosphate pathway resulting in early-onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate degradation; pentose phosphate pathway; D-glyceraldehyde 3-phosphate and beta-D-fructose 6-phosphate from D-ribose 5-phosphate and D-xylulose 5-phosphate (non-oxidative stage): step 2/3.
Sequence Similarities
Belongs to the transaldolase family. Type 1 subfamily.
Cellular localization
- Isoform 1
- Nucleus
- Cytoplasm
- Shuttles between the nucleus and the cytoplasm. Actively transported into the nucleus in an importin alpha/beta-dependent manner. Exported into the cytoplasm by CRM1.
- Isoform 2
- Cytoplasm
- Imported into the nucleus when incorporated in isoform 1/isoform 2 homodimer.
Alternative names
TAL, TALDO, TALDOR, TALDO1, Transaldolase