BRME1: Break Repair Meiotic 1
A key meiotic recombination factor essential for double-strand break repair and homologous chromosome synapsis.
Gene Information Card
| Symbol | BRME1 |
|---|---|
| Full Name | Break Repair Meiotic 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 145482 ncbi.nlm.nih.gov/gene/145482 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q5T4S7 |
| OMIM ID | 618726 |
| HGNC ID | 28235 |
| Aliases | HSRBM1, C19orf44, bA325O18.1 |
Description
BRME1 (Break Repair Meiotic 1) encodes a protein involved in meiotic recombination, specifically in the repair of programmed double-strand breaks (DSBs) during prophase I. It localizes to meiotic chromosomes and interacts with the SPO11 complex to facilitate DSB repair and homologous synapsis. Loss of BRME1 function leads to meiotic arrest and male infertility in mice and humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss-of-function mutations impair meiotic DSB repair, causing spermatogenic arrest at the zygotene/pachytene stage. | ClinVar, OMIM |
| Primary ovarian insufficiency (POI) | Biallelic variants may disrupt oocyte meiotic progression, though evidence is limited. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | High |
| Ovary | 1.2 | Low |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Not detected |
| Breast | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | High | Enriched in meiotic cells |
| Testicular germ cell tumors | Moderate | Aberrant expression reported |
| HEK293 | Low | Non-meiotic cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; associated with azoospermia |
| c.112C>T (p.Arg38*) | Nonsense | Rare | Premature truncation; loss of function |
| c.487_488del (p.Leu163Valfs*2) | Frameshift | Rare | Loss of function; meiotic arrest |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants (nonsense, frameshift, start loss) cause meiotic arrest and infertility.
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)
| • reciprocal meiotic recombination (GO:0007131) | • double-strand break repair (GO:0006302) |
| • condensed nuclear chromosome (GO:0000794) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Meiotic synapsis (Reactome: R-HSA-1221632)
Protein Summary
The BRME1 protein is a 305-amino-acid nuclear protein predominantly expressed in testicular germ cells. It contains a coiled-coil domain and localizes to meiotic chromosome axes. BRME1 interacts with SPO11 and other meiotic factors to promote the repair of programmed double-strand breaks. Its absence leads to defective crossover formation and meiotic arrest.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRME1 Knockout HEK293 Cell Line | EDJ-KQ12569 | Human | 79173 | Details Get a Quote |
| BRME1 Knockout HCT 116 Cell Line | EDJ-KQ41588 | Human | 79173 | Details Get a Quote |
| BRME1 Knockout HeLa Cell Line | EDJ-KQ41589 | Human | 79173 | Details Get a Quote |
| BRME1 Knockout A-549 Cell Line | EDJ-KQ65667 | Human | 79173 | Details Get a Quote |
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