TKTL1 Gene - Transketolase Like 1
Key regulator of the non-oxidative pentose phosphate pathway in cancer metabolism
Gene Information Card
| Symbol | TKTL1 |
|---|---|
| Full Name | Transketolase Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 8277 ncbi.nlm.nih.gov/gene/8277 |
| Ensembl ID | ENSG00000007350 |
| UniProt ID | P51854 |
| OMIM ID | 300044 |
| HGNC ID | 11834 |
| Aliases | TKT2, TKR, transketolase 2 |
Description
TKTL1 encodes a thiamine-dependent enzyme that catalyzes key reactions in the non-oxidative branch of the pentose phosphate pathway. It is involved in the conversion of sedoheptulose-7-phosphate and D-glyceraldehyde-3-phosphate to D-ribose-5-phosphate and D-xylulose-5-phosphate. Overexpression of TKTL1 is associated with enhanced glucose metabolism via the pentose phosphate pathway, contributing to nucleotide synthesis and NADPH production, which supports rapid cell proliferation in cancer. The gene is located on the X chromosome and is implicated in various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression drives metabolic reprogramming via the pentose phosphate pathway, promoting nucleotide synthesis and redox balance | PMID: 16959974, PMID: 20053767 |
| Colorectal cancer | TKTL1 upregulation correlates with poor prognosis and increased glucose flux through the pentose phosphate pathway | PMID: 16959974 |
| Hepatocellular carcinoma | TKTL1 expression is elevated and associated with aggressive tumor features | PMID: 20053767 |
| Renal cell carcinoma | TKTL1 overexpression linked to metabolic shift and tumor progression | PMID: 20053767 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Colon | 6.5 | Low |
| Breast | 4.2 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HepG2 | 18.5 | Hepatocellular carcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 9.3 | Lung cancer cell line |
| HEK293 | 5.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.5% | p.Pro412Ser; functional impact unknown |
| c.567G>A | Missense | 0.2% | p.Arg189Gln; potential loss of function |
| c.890_891insA | Frameshift | 0.1% | p.Val297fs; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the thiamine pyrophosphate binding domain are predicted to reduce transketolase activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported in TKTL1.
Dominant Negative (DN)
No dominant-negative mutations have been described for TKTL1.
View complete mutation data：
Gene Ontology (GO)
| • transketolase activity (GO:0004802) | • pentose-phosphate shunt (GO:0006098) |
| • protein binding (GO:0005515) | • cytosol (GO:0005829) |
| • cytoplasm (GO:0005737) |
Pathways
• Pentose phosphate pathway (non-oxidative branch) - Reactome R-HSA-71336
• Glucose metabolism - KEGG hsa00030
Protein Summary
Transketolase-like 1 (TKTL1) is a 623-amino acid protein that functions as a homodimer. It requires thiamine pyrophosphate (TPP) as a cofactor and catalyzes the reversible transfer of a two-carbon ketol group between sugar phosphates. The protein is predominantly cytoplasmic and is highly expressed in fetal tissues and certain cancers. Its overexpression in tumors contributes to the Warburg effect by channeling glucose metabolites into the pentose phosphate pathway, supporting anabolic biosynthesis and antioxidant defense.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TKTL1 Knockout HEK293 Cell Line | EDJ-KQ6188 | Human | 8277 | Details Get a Quote |
| TKTL1 Knockout HeLa Cell Line | EDJ-KQ54842 | Human | 8277 | Details Get a Quote |
| TKTL1 Knockout A-549 Cell Line | EDJ-KQ63333 | Human | 8277 | Details Get a Quote |
| TKTL1 Knockout HCT 116 Cell Line | EDJ-KQ71803 | Human | 8277 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
