HYI Gene - Hydroxypyruvate Isomerase
Comprehensive genomic and functional analysis of the HYI gene
Gene Information Card
| Symbol | HYI |
|---|---|
| Full Name | Hydroxypyruvate Isomerase (putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.2 |
| NCBI Gene ID | 81888 ncbi.nlm.nih.gov/gene/81888 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9NQH7 |
| OMIM ID | 616777 |
| HGNC ID | 28481 |
| Aliases | MGC13170, HT036 |
Description
The HYI gene encodes a putative hydroxypyruvate isomerase, an enzyme involved in the metabolism of hydroxypyruvate. It is located on chromosome 1p21.2 and is expressed in various tissues. The protein is predicted to catalyze the isomerization of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, though its exact physiological role remains under investigation. HYI has been studied in relation to metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glyoxylate metabolism disorder | Potential disruption of hydroxypyruvate isomerase activity leading to metabolic imbalance | Inferred from homology and pathway analysis (UniProt) |
| Colorectal cancer | Altered HYI expression observed in tumor samples; possible role in metabolic reprogramming | COSMIC mutation data; limited clinical evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Heart | 6.1 | Low |
| Brain | 4.7 | Low |
| Testis | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| A549 | 5.4 | Lung carcinoma cells |
| MCF7 | 4.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown; predicted benign (ClinVar) |
| c.245C>T | Nonsense | <0.01% | Predicted loss of function (COSMIC) |
| c.367G>A | Missense | 0.02% | Unknown; no clinical significance reported |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.245C>T) likely result in truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • isomerase activity | • hydroxypyruvate isomerase activity |
| • metabolic process |
Pathways
• Glyoxylate and dicarboxylate metabolism
• Pyruvate metabolism
Protein Summary
The HYI protein (UniProt Q9NQH7) is a putative hydroxypyruvate isomerase of approximately 32 kDa. It belongs to the isomerase family and is predicted to localize to the cytoplasm. Structural analysis suggests a TIM barrel fold. The enzyme may interconvert hydroxypyruvate and 2-hydroxy-3-oxopropanoate, contributing to glyoxylate and pyruvate metabolism. Its precise biological function and substrate specificity require further experimental validation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HYI Knockout HEK293 Cell Line | EDJ-KQ51777 | Human | 81888 | Details Get a Quote |
| HYI Knockout HeLa Cell Line | EDJ-KQ57427 | Human | 81888 | Details Get a Quote |
| HYI Knockout A-549 Cell Line | EDJ-KQ65932 | Human | 81888 | Details Get a Quote |
| HYI Knockout HCT 116 Cell Line | EDJ-KQ74358 | Human | 81888 | Details Get a Quote |
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