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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TKTL1
transketolase like 1
Chromosome X · Xq28
NCBI Gene: 8277Ensembl: ENSG00000007350.18HGNC: HGNC:11835UniProt: B7Z7I0
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosoltransketolase activitythiamine pyrophosphate bindingthiamine metabolic processneoplasmcanceroral squamous cell carcinomamelanoma
✦AI Summary

TKTL1 (transketolase-like 1) is a functional transketolase enzyme that plays crucial roles in neurogenesis and metabolic regulation 1. The protein demonstrates authentic transketolase activity through homology modeling and structural analysis, showing appropriate binding sites for thiamine pyrophosphate cofactor and substrate accommodation 1. During human neocortical development, TKTL1 is essential for maintaining basal radial glia (bRG) populations, which are neural progenitor cells that undergo asymmetric divisions to generate both self-renewing bRG and neurons 2. The modern human TKTL1 variant, differing from the Neanderthal variant by a single amino acid substitution (lysine-to-arginine), significantly increases bRG abundance through enhanced pentose phosphate pathway activity and fatty acid synthesis 2. TKTL1 functions as a key regulator in the pentose phosphate pathway, contributing to cellular energy synthesis and metabolic adaptation 3. In cancer contexts, TKTL1 promotes cell survival under hypoxic conditions and contributes to radioresistance by modulating glucose metabolism and reactive oxygen species levels 4. The protein also participates in cell cycle regulation through ribose-5-phosphate binding, facilitating the transition from G1 to S phase 5. However, endogenous TKTL1 expression appears limited in many cell types, with significant expression primarily observed in specific contexts such as germ cells and certain cancer types 6.

Sources cited
1
TKTL1 is a functional transketolase enzyme with authentic transketolase activity based on homology modeling and structural analysis
PMID: 30646877
2
TKTL1 is essential for maintaining basal radial glia during neocortical development, with the modern human variant increasing bRG abundance through pentose phosphate pathway and fatty acid synthesis
PMID: 36074851
3
TKTL1 is a crucial regulatory enzyme in the pentose phosphate pathway and plays a significant role in energy synthesis
PMID: 39311634
4
TKTL1 promotes cell survival under hypoxic conditions and contributes to radioresistance by modulating glucose metabolism and ROS levels
PMID: 30044385
5
TKTL1 participates in cell cycle regulation through ribose-5-phosphate binding, facilitating cell cycle initiation
PMID: 41020695
6
Endogenous TKTL1 expression is limited in many cell types, with considerable expression observed only in specific contexts
PMID: 26187043
Disease Associationsⓘ20
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
Abnormality of refractionOpen Targets
0.07Suggestive
inflammatory bowel diseaseOpen Targets
0.07Suggestive
kidney cancerOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.05Suggestive
inflammatory bowel disease 29Open Targets
0.05Suggestive
inflammatory bowel disease 13Open Targets
0.05Suggestive
inflammatory bowel disease 19Open Targets
0.05Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
Hirschsprung diseaseOpen Targets
0.04Suggestive
inflammatory bowel disease 1Open Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
inflammatory bowel disease 25Open Targets
0.04Suggestive
inflammatory bowel disease 30Open Targets
0.04Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.04Suggestive
cryopyrin-associated periodic syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TPK1Protein interaction98%FBP2Protein interaction98%PGAM4Protein interaction97%ENO1Protein interaction96%ENO2Protein interaction96%LDHAProtein interaction96%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
46%
Lung
9%
Brain
4%
Liver
3%
Ovary
2%
Gene Interaction Network
Click a node to explore
TKTL1TPK1FBP2PGAM4ENO1ENO2LDHA
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P51854
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.12Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.12]
RankingsWhere TKTL1 stands among ~20K protein-coding genes
  • #6,769of 20,598
    Most Researched70
  • #111of 17,882
    Most Constrained (LOEUF)0.12 · top 1%
Genes detectedTKTL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals.
PMID: 36074851
Science · 2022
1.00
2
The human transketolase-like proteins TKTL1 and TKTL2 are bona fide transketolases.
PMID: 30646877
BMC Struct Biol · 2019
0.90
3
TKTL1 expression in human malign and benign cell lines.
PMID: 26187043
BMC Cancer · 2015
0.80
4
Molecular Characteristics and Expression of TKTL1 in Germ Cells: Implications for Nontumour Cell Research.
PMID: 39311634
Reprod Domest Anim · 2024
0.70
5
Gene Suppression of Transketolase-Like Protein 1 (TKTL1) Sensitizes Glioma Cells to Hypoxia and Ionizing Radiation.
PMID: 30044385
Int J Mol Sci · 2018
0.60