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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRM1
protamine 1
Chromosome 16 · 16p13.13
NCBI Gene: 5619Ensembl: ENSG00000175646.4HGNC: HGNC:9447UniProt: P04553
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmcytosolprotein bindingspermatogenesisinflammatory bowel diseasebasal cell carcinomatype 1 diabetes mellitusCrohn's disease
✦AI Summary

PRM1 (protamine 1) is a sperm-specific histone substitute that plays a critical role in male fertility. During spermiogenesis, PRM1 is expressed postmeiotically in round and elongating spermatids 1 where it functions alongside PRM2 and transition proteins to compact and condense DNA into highly stable, transcriptionally inactive chr16 2. The PRM1:PRM2 ratio must be precisely maintained (approximately 1:2 in wild-type) for proper sperm chr16 hypercondensation; disruption of this ratio leads to subfertility or infertility 2. PRM1 is semen-specific and serves as a reliable biomarker for forensic body fluid identification 3. At fertilization, SRPK1-catalyzed phosphorylation of PRM1 initiates protamine-to-histone exchange in the oocyte, triggering parental genome reprogramming essential for embryonic development 4. Genetic variations in PRM1, particularly the rs2301365 polymorphism, are associated with increased male infertility risk 5. Notably, even a single amino acid substitution outside the arginine-rich core (K49A) significantly reduces protamine-DNA binding, alters sperm motility, and compromises male fertility and embryonic development 6. Beyond reproduction, PRM1 is identified as a cancer-testis antigen with potential applications in cancer immunotherapy and drug delivery systems 7.

Sources cited
1
PRM1 transcript expression is postmeiotic in round and elongating spermatids during spermiogenesis
PMID: 7865133
2
PRM1 is required for proper PRM2 processing and the species-specific PRM1:PRM2 ratio is essential for full fertility
PMID: 35608054
3
PRM1 and PRM2 are semen-specific gene transcripts useful for body fluid identification
PMID: 17868268
4
SRPK1-catalyzed phosphorylation of protamine initiates protamine-to-histone exchange and parental genome reprogramming at fertilization
PMID: 32169215
5
PRM1 rs2301365 polymorphism is associated with elevated risk of male infertility
PMID: 33057064
6
A single amino acid substitution (K49A) in PRM1 reduces protamine-DNA binding and impairs sperm motility, fertility, and embryonic development
PMID: 37460896
7
PRM1 is identified as a cancer-testis antigen with potential applications in cancer treatment and drug delivery systems
PMID: 35116345
Disease Associationsⓘ20
inflammatory bowel diseaseOpen Targets
0.31Weak
basal cell carcinomaOpen Targets
0.31Weak
type 1 diabetes mellitusOpen Targets
0.29Weak
Crohn's diseaseOpen Targets
0.27Weak
Eczematoid dermatitisOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.14Weak
azoospermiaOpen Targets
0.11Weak
psoriasisOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.08Suggestive
ankylosing spondylitisOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.08Suggestive
Rare genetic female infertilityOpen Targets
0.07Suggestive
primary biliary cirrhosisOpen Targets
0.07Suggestive
sclerosing cholangitisOpen Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TNP1Protein interaction96%KDM3AProtein interaction86%KLHL10Protein interaction85%NUPR1Protein interaction84%TNP2Protein interaction74%TFAP4Protein interaction71%
Tissue Expression6 tissues
Liver
100%
Ovary
39%
Bone Marrow
6%
Lung
6%
Brain
3%
Heart
0%
Gene Interaction Network
Click a node to explore
PRM1TNP1KDM3AKLHL10NUPR1TNP2TFAP4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P04553
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.82 [0.42–1.64]
RankingsWhere PRM1 stands among ~20K protein-coding genes
  • #7,308of 20,598
    Most Researched64
  • #15,833of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedPRM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
mRNA profiling for body fluid identification by multiplex quantitative RT-PCR.
PMID: 17868268
J Forensic Sci · 2007
1.00
2
Initiation of Parental Genome Reprogramming in Fertilized Oocyte by Splicing Kinase SRPK1-Catalyzed Protamine Phosphorylation.
PMID: 32169215
Cell · 2020
0.90
3
Phase-separated CCER1 coordinates the histone-to-protamine transition and male fertility.
PMID: 38081819
Nat Commun · 2023
0.80
4
Evaluation of the association between polymorphisms of PRM1 and PRM2 and the risk of male infertility: a systematic review, meta-analysis, and meta-regression.
PMID: 33057064
Sci Rep · 2020
0.70
5
Coordinate expression of the PRM1, PRM2, and TNP2 multigene locus in human testis.
PMID: 7865133
DNA Cell Biol · 1995
0.60