MND1
Meiotic Nuclear Divisions 1
Gene Information Card
| Symbol | MND1 |
|---|---|
| Full Name | Meiotic Nuclear Divisions 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 84057 ncbi.nlm.nih.gov/gene/84057 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9BWT6 |
| OMIM ID | 611974 |
| HGNC ID | 24819 |
| Aliases | GAJ, MND1-AS1 |
Description
MND1 (Meiotic Nuclear Divisions 1) encodes a protein that forms a heterodimer with HOP2 (also known as PSMC3IP). This complex is critical for homologous chromosome pairing and recombination during meiosis. MND1 stabilizes the interaction between recombinases RAD51 and DMC1 with single-stranded DNA, promoting strand exchange and crossover formation. It is also involved in DNA double-strand break repair in somatic cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male Infertility (Azoospermia) | MND1 mutations impair meiotic recombination, leading to spermatogenic arrest and non-obstructive azoospermia. | ClinVar, OMIM |
| Female Infertility (Premature Ovarian Insufficiency) | Defects in MND1 disrupt oocyte meiosis, causing ovarian failure. | ClinVar, OMIM |
| Cancer Susceptibility | Altered MND1 expression may affect genomic stability, contributing to tumorigenesis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Ovary | 4.2 | Medium |
| Bone Marrow | 2.1 | Low |
| Lymph Node | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 3.5 | Moderate expression |
| HeLa (cervical) | 2.0 | Low expression |
| A549 (lung) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Impaired HOP2 binding, reduced recombination |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Disrupted DNA binding, meiotic arrest |
Mutation functional classification
Loss of Function (LOF)
Most reported MND1 mutations are loss-of-function, leading to meiotic arrest and infertility.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • reciprocal meiotic recombination (GO:0007131) | • single-stranded DNA binding (GO:0003697) |
| • meiotic DNA double-strand break processing (GO:0042138) | • nucleus (GO:0005634) |
Pathways
• Homologous recombination (Reactome: R-HSA-5695940)
• Meiotic recombination (KEGG: hsa04114)
Protein Summary
The MND1 protein (240 amino acids, ~27 kDa) contains a conserved HORMA domain that mediates interaction with HOP2. It localizes to meiotic chromosomes and facilitates strand exchange by RAD51 and DMC1. In somatic cells, MND1 contributes to DNA repair via homologous recombination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MND1 Knockout HEK293 Cell Line | EDJ-KQ51804 | Human | 84057 | Details Get a Quote |
| MND1 Knockout HeLa Cell Line | EDJ-KQ57522 | Human | 84057 | Details Get a Quote |
| MND1 Knockout A-549 Cell Line | EDJ-KQ66021 | Human | 84057 | Details Get a Quote |
| MND1 Knockout HCT 116 Cell Line | EDJ-KQ74444 | Human | 84057 | Details Get a Quote |
