MSRA: Methionine Sulfoxide Reductase A
A key enzyme in the repair of oxidized methionine residues, involved in aging, neurodegeneration, and cancer.
Gene Information Card
| Symbol | MSRA |
|---|---|
| Full Name | Methionine Sulfoxide Reductase A |
| Gene Type | Protein coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 4482 ncbi.nlm.nih.gov/gene/4482 |
| Ensembl ID | ENSG00000175899 |
| UniProt ID | Q9UJ68 |
| OMIM ID | 601250 |
| HGNC ID | 7377 |
| Aliases | PMSR, PMSR1, MsrA, SELENOX, MRSRA |
Description
The MSRA gene encodes methionine sulfoxide reductase A, an enzyme that catalyzes the reduction of methionine sulfoxide to methionine, thereby repairing oxidative damage to proteins. It plays a critical role in cellular defense against oxidative stress, aging, and is implicated in neurodegenerative diseases and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | Reduced MSRA activity leads to accumulation of oxidized proteins, contributing to neurodegeneration. | PMID: 19013282 |
| Parkinson's disease | Oxidative stress and decreased MSRA expression are linked to dopaminergic neuron loss. | PMID: 21593512 |
| Cataract | Oxidative damage to lens proteins; MSRA deficiency accelerates cataract formation. | PMID: 16914752 |
| Colorectal cancer | MSRA overexpression may promote tumor growth via altered redox regulation. | COSMIC: MSRA mutations found in colorectal cancer samples. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 18.5 | High |
| Liver | 15.2 | High |
| Brain | 8.7 | Medium |
| Heart | 6.3 | Medium |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | High expression |
| HeLa | 9.8 | Medium expression |
| A549 | 7.1 | Medium expression |
| MCF7 | 5.4 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238G>A (p.Gly80Arg) | Missense | 0.001 | Reduced catalytic activity |
| c.364C>T (p.Arg122Trp) | Missense | 0.0005 | Loss of function |
| c.123_124insA | Frameshift | <0.0001 | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that impair catalytic activity or protein stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • peptide-methionine (S)-S-oxide reductase activity (GO:0008113) | • protein repair (GO:0030091) |
| • response to oxidative stress (GO:0006979) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Methionine salvage pathway
• Cellular response to oxidative stress
Protein Summary
MSRA is a 235-amino acid protein localized to the cytoplasm and nucleus. It contains a conserved catalytic cysteine residue essential for reducing methionine sulfoxide. The enzyme uses thioredoxin as a reducing cofactor. MSRA is widely expressed, with highest levels in kidney and liver. Its activity declines with age, contributing to protein oxidation and age-related diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSRA Knockout HEK293 Cell Line | EDJ-KQ5246 | Human | 4482 | Details Get a Quote |
| MSRA Knockout A-549 Cell Line | EDJ-KQ28278 | Human | 4482 | Details Get a Quote |
| MSRA Knockout HCT 116 Cell Line | EDJ-KQ28279 | Human | 4482 | Details Get a Quote |
| MSRA Knockout HeLa Cell Line | EDJ-KQ28280 | Human | 4482 | Details Get a Quote |