TPI1 Gene: Triosephosphate Isomerase 1
Essential glycolytic enzyme; mutations cause TPI deficiency, a rare multisystem disorder
Gene Information Card
| Symbol | TPI1 |
|---|---|
| Full Name | Triosephosphate Isomerase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 7167 ncbi.nlm.nih.gov/gene/7167 |
| Ensembl ID | ENSG00000111669 |
| UniProt ID | P60174 |
| OMIM ID | 190450 |
| HGNC ID | 12009 |
| Aliases | TPI, TPI1A, TPI1B, TIM |
Description
The TPI1 gene encodes triosephosphate isomerase 1, a key glycolytic enzyme that catalyzes the interconversion of dihydroxyacetone phosphate (DHAP) and glyceraldehyde-3-phosphate (G3P). This homodimeric enzyme is essential for efficient energy production and is expressed ubiquitously. Mutations in TPI1 cause triosephosphate isomerase deficiency (OMIM #615512), a rare autosomal recessive disorder characterized by hemolytic anemia, progressive neuromuscular dysfunction, and increased susceptibility to infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Triosephosphate isomerase deficiency | Loss-of-function mutations reduce enzyme activity, leading to accumulation of DHAP and metabolic toxicity | ClinVar, OMIM #615512 |
| Hemolytic anemia (associated with TPI deficiency) | Impaired glycolysis in erythrocytes causes reduced ATP and premature red cell destruction | NCBI Gene, OMIM |
| Neuromuscular degeneration (associated with TPI deficiency) | Metabolic stress and DHAP accumulation in neural tissues lead to progressive motor dysfunction | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 1234.5 | High |
| Heart | 987.3 | High |
| Liver | 654.2 | Medium |
| Brain | 543.1 | Medium |
| Blood | 321.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 456.7 | High expression; relevant for erythroid metabolism |
| HepG2 (hepatocellular carcinoma) | 789.0 | High expression; liver model |
| SH-SY5Y (neuroblastoma) | 234.5 | Moderate expression; neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.315C>T (p.Phe105Leu) | Missense | Common in TPI deficiency | Loss of function; reduced enzyme activity |
| c.145G>A (p.Glu49Lys) | Missense | Rare | Loss of function; impaired dimerization |
| c.449T>C (p.Ile150Thr) | Missense | Rare | Loss of function; catalytic defect |
Mutation functional classification
Loss of Function (LOF)
Most TPI1 mutations are loss-of-function, reducing enzyme activity to <10% of normal, leading to TPI deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in TPI1.
Dominant Negative (DN)
No dominant-negative mutations reported; TPI deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • triose-phosphate isomerase activity (GO:0004807) | • glycolytic process (GO:0006096) |
| • cytosol (GO:0005829) | • isomerase activity (GO:0016853) |
| • identical protein binding (GO:0042802) |
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Carbon metabolism (KEGG: hsa01200)
• Pentose phosphate pathway (KEGG: hsa00030)
Protein Summary
Triosephosphate isomerase 1 (TPI1) is a 27 kDa homodimeric enzyme that catalyzes the reversible isomerization of DHAP to G3P in glycolysis. Each subunit adopts a TIM barrel fold (beta/alpha)8. The active site contains key residues (e.g., Glu165, His95) essential for catalysis. TPI1 is highly conserved across species and is expressed in all tissues. Deficiency due to mutations leads to metabolic imbalance and clinical disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPI1 Knockout HEK293 Cell Line | EDJ-KQ50691 | Human | 7167 | Details Get a Quote |
| TPI1 Knockout HeLa Cell Line | EDJ-KQ54686 | Human | 7167 | Details Get a Quote |
| TPI1 Knockout A-549 Cell Line | EDJ-KQ63171 | Human | 7167 | Details Get a Quote |
| TPI1 Knockout HCT 116 Cell Line | EDJ-KQ71642 | Human | 7167 | Details Get a Quote |
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