PRM1: Protamine 1 Gene
Key regulator of sperm chromatin condensation and male fertility
Gene Information Card
| Symbol | PRM1 |
|---|---|
| Full Name | Protamine 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.13 |
| NCBI Gene ID | 5619 ncbi.nlm.nih.gov/gene/5619 |
| Ensembl ID | ENSG00000175664 |
| UniProt ID | P04553 |
| OMIM ID | 182880 |
| HGNC ID | 9447 |
| Aliases | P1, Protamine-1, CT94.1 |
Description
PRM1 encodes protamine 1, a small arginine-rich nuclear protein that replaces histones during spermatogenesis, enabling tight DNA condensation in sperm heads. This process is critical for sperm motility, DNA integrity, and fertilization. PRM1 is expressed exclusively in the testis and is essential for male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (oligozoospermia, asthenozoospermia) | Altered PRM1 expression or mutations disrupt chromatin condensation, leading to sperm DNA damage and reduced motility. | ClinVar, OMIM |
| Spermatogenic failure | Loss-of-function variants impair protamine replacement, causing abnormal sperm morphology and infertility. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 122.5 | High |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | High | Mature spermatozoa |
| Testicular germ cells | High | Spermatids and spermatocytes |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107G>A (p.Arg36His) | Missense | Rare | Reduced DNA binding affinity, associated with male infertility |
| c.49C>T (p.Arg17Cys) | Missense | Rare | Impaired chromatin condensation, linked to asthenozoospermia |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression, severe spermatogenic failure |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish protamine 1 function, leading to defective sperm chromatin packaging and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; PRM1 acts in a haploinsufficient manner.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • Chromatin condensation (GO:0030261) |
| • Nucleus (GO:0005634) | • Spermatid development (GO:0007286) |
| • Male gamete generation (GO:0048232) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
• Chromatin condensation in sperm (Reactome: R-HSA-3214842)
Protein Summary
Protamine 1 is a 50-amino acid nuclear protein with high arginine content, enabling strong electrostatic binding to DNA. It replaces histones in elongating spermatids, facilitating hypercondensation of sperm chromatin. This compaction protects the paternal genome during transport and is essential for fertilization. PRM1 is co-expressed with PRM2, and their ratio is critical for sperm quality.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OPRM1 Knockout HEK293 Cell Line | EDJ-KQ3041 | Human | 4988 | Details Get a Quote |
| PRM1 Knockout HEK293 Cell Line | EDJ-KQ5541 | Human | 5619 | Details Get a Quote |
| OPRM1 Knockout HeLa Cell Line | EDJ-KQ54050 | Human | 4988 | Details Get a Quote |
| PRM1 Knockout HeLa Cell Line | EDJ-KQ54220 | Human | 5619 | Details Get a Quote |
| OPRM1 Knockout A-549 Cell Line | EDJ-KQ62538 | Human | 4988 | Details Get a Quote |
| PRM1 Knockout A-549 Cell Line | EDJ-KQ62714 | Human | 5619 | Details Get a Quote |
| OPRM1 Knockout HCT 116 Cell Line | EDJ-KQ71010 | Human | 4988 | Details Get a Quote |
| PRM1 Knockout HCT 116 Cell Line | EDJ-KQ71186 | Human | 5619 | Details Get a Quote |
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