GLYR1
Glyoxylate Reductase 1 Homolog
Gene Information Card
| Symbol | GLYR1 |
|---|---|
| Full Name | Glyoxylate Reductase 1 Homolog |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 84656 ncbi.nlm.nih.gov/gene/84656 |
| Ensembl ID | ENSG00000140678 |
| UniProt ID | Q9H6W3 |
| OMIM ID | 616677 |
| HGNC ID | 20967 |
| Aliases | GLYR1, NNP-1, NNP1, PRO0477 |
Description
GLYR1 encodes a glyoxylate reductase that catalyzes the NADPH-dependent reduction of glyoxylate to glycolate. The enzyme is involved in hydroxyproline metabolism and may play a role in cellular redox balance. It is widely expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary hyperoxaluria type II (PH2) | Loss-of-function mutations in GLYR1 impair glyoxylate detoxification, leading to oxalate overproduction and kidney stone formation. | ClinVar, OMIM |
| Nephrolithiasis | Deficient glyoxylate reductase activity increases urinary oxalate, promoting calcium oxalate stone formation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 6.2 | Low |
| Brain | 4.1 | Low |
| Testis | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
| A549 | 5.3 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.494G>A (p.Arg165His) | Missense | <0.01% | Reduced enzyme activity; associated with PH2 |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; pathogenic in PH2 |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish glyoxylate reductase activity, leading to glyoxylate accumulation and oxalate overproduction.
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)
| • oxidoreductase activity (GO:0016491) | • oxidation-reduction process (GO:0055114) |
| • cytosol (GO:0005829) | • cytoplasm (GO:0005737) |
Pathways
• Glyoxylate and dicarboxylate metabolism (KEGG: hsa00630)
• Hydroxyproline degradation (Reactome: R-HSA-389661)
Protein Summary
GLYR1 is a 328-amino-acid protein that functions as a homodimeric NADPH-dependent glyoxylate reductase. It localizes to the cytosol and is highly expressed in liver and kidney. The enzyme converts glyoxylate to glycolate, preventing oxalate accumulation. Mutations cause primary hyperoxaluria type II.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLYR1 Knockout HEK293 Cell Line | EDJ-KQ2651 | Human | 84656 | Details Get a Quote |
| GLYR1 Knockout A-549 Cell Line | EDJ-KQ23421 | Human | 84656 | Details Get a Quote |
| GLYR1 Knockout HCT 116 Cell Line | EDJ-KQ23422 | Human | 84656 | Details Get a Quote |
| GLYR1 Knockout HeLa Cell Line | EDJ-KQ23423 | Human | 84656 | Details Get a Quote |
