PYCR3 Gene: Pyrroline-5-Carboxylate Reductase 3
Key enzyme in proline biosynthesis and cellular redox balance
Gene Information Card
| Symbol | PYCR3 |
|---|---|
| Full Name | Pyrroline-5-Carboxylate Reductase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 54463 ncbi.nlm.nih.gov/gene/54463 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q53H96 |
| OMIM ID | 616921 |
| HGNC ID | 25791 |
| Aliases | P5CR3, P5C reductase 3, PYCRL |
Description
PYCR3 encodes pyrroline-5-carboxylate reductase 3, an enzyme that catalyzes the NAD(P)H-dependent reduction of Δ1-pyrroline-5-carboxylate to proline. This reaction is the final step in proline biosynthesis from glutamate and ornithine. PYCR3 is involved in cellular redox homeostasis, collagen synthesis, and stress response. It is expressed in various tissues and is upregulated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, colorectal) | Overexpression of PYCR3 increases proline production, supporting cancer cell proliferation and redox balance | PMID: 30598546 |
| Metabolic disorders | Altered PYCR3 activity may disrupt proline metabolism, contributing to metabolic syndrome | PMID: 28431214 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.2 | High expression |
| HeLa | 14.7 | Moderate expression |
| MCF7 | 22.1 | High expression |
| HepG2 | 10.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | Rare | Unknown functional impact |
| c.458C>T (p.Pro153Leu) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • pyrroline-5-carboxylate reductase activity (GO:0004735) | • oxidation-reduction process (GO:0055114) |
| • proline biosynthetic process (GO:0006561) | • cytoplasm (GO:0005737) |
Pathways
• Proline biosynthesis (Reactome: R-HSA-70614)
• Arginine and proline metabolism (KEGG: hsa00330)
Protein Summary
PYCR3 is a 274-amino acid enzyme that belongs to the pyrroline-5-carboxylate reductase family. It localizes to the cytoplasm and uses NAD(P)H as a cofactor to reduce P5C to proline. The protein is involved in proline homeostasis, redox regulation, and collagen production. Its expression is elevated in several cancers, suggesting a role in tumor metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PYCR3 Knockout HEK293 Cell Line | EDJ-KQ14963 | Human | 65263 | Details Get a Quote |
| PYCR3 Knockout A-549 Cell Line | EDJ-KQ45441 | Human | 65263 | Details Get a Quote |
| PYCR3 Knockout HCT 116 Cell Line | EDJ-KQ45442 | Human | 65263 | Details Get a Quote |
| PYCR3 Knockout HeLa Cell Line | EDJ-KQ45443 | Human | 65263 | Details Get a Quote |
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