MEI1 Gene - Meiotic Double-Stranded Break Formation Protein 1
Essential regulator of meiotic recombination and spermatogenesis
Gene Information Card
| Symbol | MEI1 |
|---|---|
| Full Name | Meiotic Double-Stranded Break Formation Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 150365 ncbi.nlm.nih.gov/gene/150365 |
| Ensembl ID | ENSG00000100376 |
| UniProt ID | Q5TIA1 |
| OMIM ID | 608797 |
| HGNC ID | 29268 |
| Aliases | SPATA38, C22orf9, MEI1_HUMAN |
Description
MEI1 encodes a protein essential for meiotic recombination, specifically required for the formation of programmed DNA double-strand breaks (DSBs) during prophase I of meiosis. The protein localizes to meiotic chromosomes and interacts with other DSB machinery components. Loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia in males, leading to primary infertility. MEI1 is predominantly expressed in testis and plays a critical role in spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 9 (SPGF9) | MEI1 loss-of-function mutations disrupt meiotic DSB formation, causing meiotic arrest at zygotene/pachytene stage and absence of mature sperm. | OMIM #617706; ClinVar pathogenic variants |
| Non-obstructive azoospermia | Biallelic MEI1 mutations lead to complete meiotic arrest, resulting in azoospermia with no sperm in ejaculate. | Case reports in PubMed; ClinVar |
| Primary ovarian insufficiency (POI) | Homozygous MEI1 variants may impair oocyte meiosis, leading to premature ovarian failure. | Limited evidence; OMIM #608797 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 1.2 | Low |
| Ovary | 0.8 | Low |
| Prostate | 0.5 | Low |
| Skin | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.0 | Testis-derived; moderate expression |
| HEK293 | 0.1 | Very low; non-germline |
| K562 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.293C>T (p.Pro98Leu) | Missense | Rare | Loss of function; disrupts protein stability |
| c.1039C>T (p.Arg347*) | Nonsense | Rare | Premature stop; complete loss of function |
| c.1567_1568del (p.Leu523Glufs*2) | Frameshift | Rare | Truncated protein; loss of DSB formation activity |
| c.2212C>T (p.Arg738Trp) | Missense | Rare | Impaired localization to meiotic chromosomes |
Mutation functional classification
Loss of Function (LOF)
Most reported MEI1 mutations are loss-of-function (nonsense, frameshift, splice-site, missense) leading to meiotic arrest and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for MEI1.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • reciprocal meiotic recombination (GO:0007131) | • double-strand break repair (GO:0006302) |
| • nucleus (GO:0005634) | • condensed nuclear chromosome (GO:0000794) |
| • meiotic DNA double-strand break formation (GO:0017127) | • spermatid development (GO:0007286) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Meiosis (KEGG: hsa04114)
• Homology directed repair (Reactome: R-HSA-5693532)
Protein Summary
MEI1 is a 1,009-amino-acid nuclear protein (UniProt Q5TIA1) that functions as a key component of the meiotic DSB machinery. It is required for the formation of SPO11-dependent double-strand breaks during prophase I. The protein contains a conserved domain of unknown function (DUF) and is expressed exclusively in germ cells. MEI1 interacts with MEI4 and other DSB factors. In humans, loss of MEI1 causes complete meiotic arrest, leading to non-obstructive azoospermia and male infertility. No crystal structure is available; functional studies rely on mouse models (Mei1 knockout shows similar meiotic arrest).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEI1 Knockout HEK293 Cell Line | EDJ-KQ11278 | Human | 150365 | Details Get a Quote |
| MEI1 Knockout HeLa Cell Line | EDJ-KQ39382 | Human | 150365 | Details Get a Quote |
| MEI1 Knockout A-549 Cell Line | EDJ-KQ67141 | Human | 150365 | Details Get a Quote |
| MEI1 Knockout HCT 116 Cell Line | EDJ-KQ75547 | Human | 150365 | Details Get a Quote |
