M1AP
Meiosis 1 Associated Protein
Gene Information Card
| Symbol | M1AP |
|---|---|
| Full Name | Meiosis 1 Associated Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 4627 ncbi.nlm.nih.gov/gene/4627 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q96NZ9 |
| OMIM ID | 611926 |
| HGNC ID | 26429 |
| Aliases | SPATA45, C2orf64 |
Description
M1AP encodes a protein involved in meiotic recombination and spermatogenesis. It is essential for homologous chromosome pairing and crossover formation during meiosis I. Loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia in males.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia (NOA) | Biallelic loss-of-function mutations in M1AP disrupt meiotic recombination, leading to spermatogenic arrest at the primary spermatocyte stage. | ClinVar, OMIM |
| Spermatogenic failure 44 | Homozygous or compound heterozygous truncating variants cause meiotic arrest and male infertility. | OMIM #619044 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 1.2 | Low |
| Ovary | 0.8 | Low |
| Prostate | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | 15.0 | Enriched in meiotic cells |
| Spermatogonia | 2.0 | Lower expression |
| Sertoli cells | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.676C>T (p.Arg226*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
| c.1063_1064del (p.Gln355Valfs*12) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants cause meiotic arrest and non-obstructive azoospermia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • meiotic cell cycle | • homologous chromosome pairing |
| • meiotic recombination | • spermatogenesis |
| • nucleus | • protein binding |
Pathways
• Meiotic recombination
• Spermatogenesis
Protein Summary
M1AP is a 657-amino acid protein localized to the nucleus of meiotic spermatocytes. It interacts with SYCP3 and other components of the synaptonemal complex to facilitate homologous chromosome pairing and crossover formation. Loss of M1AP leads to meiotic arrest and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| M1AP Knockout HEK293 Cell Line | EDJ-KQ9260 | Human | 130951 | Details Get a Quote |
| M1AP Knockout HCT 116 Cell Line | EDJ-KQ35863 | Human | 130951 | Details Get a Quote |
| M1AP Knockout HeLa Cell Line | EDJ-KQ58287 | Human | 130951 | Details Get a Quote |
| M1AP Knockout A-549 Cell Line | EDJ-KQ66776 | Human | 130951 | Details Get a Quote |
