PRM3 (Protamine 3)
A testis-specific protamine gene involved in sperm chromatin condensation and male fertility.
Gene Information Card
| Symbol | PRM3 |
|---|---|
| Full Name | Protamine 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.13 |
| NCBI Gene ID | 58532 ncbi.nlm.nih.gov/gene/58532 |
| Ensembl ID | ENSG00000161981 |
| UniProt ID | Q9NRX4 |
| OMIM ID | 611159 |
| HGNC ID | 9448 |
| Aliases | CT94, P3 |
Description
PRM3 (Protamine 3) is a protein-coding gene located on chromosome 16p13.13. It encodes a testis-specific protamine that replaces histones during spermatogenesis, facilitating sperm chromatin condensation and DNA packaging. PRM3 is essential for normal sperm head morphology and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (oligozoospermia, teratozoospermia) | Altered protamine expression leads to defective chromatin condensation and abnormal sperm morphology. | ClinVar, OMIM |
| Spermatogenic failure | Loss-of-function variants in PRM3 disrupt protamine replacement, impairing spermatogenesis. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.1 | Not detected |
| Prostate | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa (mature) | N/A | High expression; key role in chromatin condensation |
| Testicular germ cells (spermatids) | N/A | Stage-specific expression during spermiogenesis |
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; predicted loss of function |
| c.79C>T (p.Arg27*) | Nonsense | Rare | Premature stop; loss of function |
| c.101G>A (p.Arg34His) | Missense | Rare | Altered protein charge; potential effect on DNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg27*) lead to truncated protein and loss of protamine function, impairing sperm chromatin condensation.
Gain of Function (GOF)
No gain-of-function mutations reported for PRM3.
Dominant Negative (DN)
No dominant-negative mutations reported for PRM3.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • chromatin condensation |
| • spermatogenesis | • nucleus |
| • protein-DNA complex assembly |
Pathways
• Spermatogenesis
• Chromatin condensation in sperm
Protein Summary
Protamine 3 is a small, arginine-rich nuclear protein expressed exclusively in the testis. It binds to DNA and facilitates the replacement of histones during spermiogenesis, resulting in highly condensed sperm chromatin. PRM3 is critical for sperm head shaping, DNA protection, and male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRM3 Knockout HEK293 Cell Line | EDJ-KQ12155 | Human | 58531 | Details Get a Quote |
| PRM3 Knockout HeLa Cell Line | EDJ-KQ56953 | Human | 58531 | Details Get a Quote |
| PRM3 Knockout A-549 Cell Line | EDJ-KQ65459 | Human | 58531 | Details Get a Quote |
| PRM3 Knockout HCT 116 Cell Line | EDJ-KQ73895 | Human | 58531 | Details Get a Quote |
