MSRB1: Methionine Sulfoxide Reductase B1
A selenoprotein involved in antioxidant defense and redox regulation
Gene Information Card
| Symbol | MSRB1 |
|---|---|
| Full Name | Methionine Sulfoxide Reductase B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 51734 ncbi.nlm.nih.gov/gene/51734 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q9NZV6 |
| OMIM ID | 606269 |
| HGNC ID | 18175 |
| Aliases | SELR, SELENOR, SepR, CGI-131, FLJ10511 |
Description
MSRB1 (Methionine Sulfoxide Reductase B1) is a protein-coding gene that encodes a selenoprotein containing a selenocysteine residue. This enzyme catalyzes the reduction of methionine-R-sulfoxide to methionine, playing a key role in antioxidant defense and repair of oxidative damage. It is involved in cellular redox homeostasis and protection against oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Liver cancer cell line |
| HEK293 | 11.3 | Embryonic kidney cells |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown effect |
| c.100C>T | Nonsense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of reductase activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • peptide-methionine (R)-S-oxide reductase activity (GO:0008113) | • protein repair (GO:0030091) |
| • response to oxidative stress (GO:0006979) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Methionine salvage pathway
• Selenoamino acid metabolism
Protein Summary
MSRB1 is a 116-amino acid selenoprotein that contains a selenocysteine residue at position 95. It functions as a methionine-R-sulfoxide reductase, reducing oxidized methionine residues in proteins, thereby protecting against oxidative damage. The protein is localized in the cytoplasm and cytosol and is expressed in various tissues, with highest levels in testis, liver, and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSRB1 Knockout HEK293 Cell Line | EDJ-KQ11207 | Human | 51734 | Details Get a Quote |
| MSRB1 Knockout HCT 116 Cell Line | EDJ-KQ37944 | Human | 51734 | Details Get a Quote |
| MSRB1 Knockout A-549 Cell Line | EDJ-KQ39270 | Human | 51734 | Details Get a Quote |
| MSRB1 Knockout HeLa Cell Line | EDJ-KQ39272 | Human | 51734 | Details Get a Quote |
