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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRSS57
serine protease 57
Chromosome 19 · 19p13.3
NCBI Gene: 400668Ensembl: ENSG00000185198.12HGNC: HGNC:31397UniProt: A0A0A0MR61
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615azurophil granule lumenserine-type peptidase activityproteolysisGraves diseasenicotine dependenceneutrophil immunodeficiency syndromeimmunodeficiency 86
✦AI Summary

PRSS57 (neutrophil serine protease 4, NSP4) is a serine protease with distinctive substrate specificity and emerging roles in multiple biological contexts. The enzyme preferentially cleaves substrates after arginine residues 12, with the unique ability to also process post-translationally modified arginine forms including citrulline and methylarginine 3. Structurally, NSP57 employs an uncommon recognition mechanism featuring a fully occluded S1 pocket and stabilization of substrate P1-arginine in a noncanonical "up" conformation, distinguishing it from canonical trypsin-like proteases 3. PRSS57 is expressed in hematopoietic stem and progenitor cells, where it may participate in intercellular communication within the bone marrow stem cell niche through interaction with inhibitor SPINK2 4. Recent genetic studies implicate PRSS57 in rheumatoid arthritis pathogenesis, identifying it as a potential risk factor through plasma proteome association 5, and in lipid metabolism regulation relevant to cardiovascular health 6. Additionally, PRSS57 expression shows age-dependent variation in spermatozoa, correlating with declining male fertility in advancing age 7. While biological functions in immune regulation and reproduction are suggested, the clinical significance of PRSS57 requires further functional characterization to establish therapeutic potential.

Sources cited
1
PRSS57 cleaves preferentially after Arg residues
PMID: 22474388
2
PRSS57 cleaves preferentially after Arg residues
PMID: 23904161
3
PRSS57 can cleave after citrulline and methylarginine residues; employs noncanonical substrate recognition mechanism with occluded S1 pocket
PMID: 25156428
4
PRSS57 is expressed in hematopoietic stem and progenitor cells and participates in intercellular communication within bone marrow niche
PMID: 37378330
5
PRSS57 identified as potential risk factor for rheumatoid arthritis through Mendelian randomization plasma proteome analysis
PMID: 41261583
6
PRSS57 identified as candidate gene involved in lipid metabolism regulation
PMID: 40922363
7
PRSS57 expression detected in spermatozoa with age-dependent variation correlating with fertility decline
PMID: 40649876
Disease Associationsⓘ20
Graves diseaseOpen Targets
0.10Suggestive
nicotine dependenceOpen Targets
0.08Suggestive
neutrophil immunodeficiency syndromeOpen Targets
0.07Suggestive
immunodeficiency 86Open Targets
0.05Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.05Suggestive
Neutropenia - monocytopenia - deafnessOpen Targets
0.04Suggestive
neutropenia-monocytopenia-deafness syndromeOpen Targets
0.04Suggestive
Testicular regression syndromeOpen Targets
0.03Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.03Suggestive
Barth syndromeOpen Targets
0.03Suggestive
chronic myelogenous leukemiaOpen Targets
0.03Suggestive
testicular agenesisOpen Targets
0.03Suggestive
46,XY sex reversal 3Open Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
rotavirus infectionOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
COVID-19Open Targets
0.01Suggestive
gastroenteritisOpen Targets
0.01Suggestive
breast angiosarcomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KLK10Shared pathway100%KLK11Shared pathway100%KLK13Shared pathway100%KLK12Shared pathway100%KLK15Shared pathway100%TASP1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Ovary
0%
Liver
0%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
PRSS57KLK10KLK11KLK13KLK12KLK15TASP1
PROTEIN STRUCTURE
Preparing viewer…
PDB4Q7Z · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.61LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.08 [0.74–1.61]
RankingsWhere PRSS57 stands among ~20K protein-coding genes
  • #16,871of 20,598
    Most Researched11
  • #15,703of 17,882
    Most Constrained (LOEUF)1.61
Genes detectedPRSS57
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Pharmacogenetics of tuberculosis treatment toxicity and effectiveness in a large Brazilian cohort.
PMID: 39470346
Pharmacogenet Genomics · 2025
1.00
2
Plasma proteins and rheumatoid arthritis: A Mendelian randomization analysis.
PMID: 41261583
Medicine (Baltimore) · 2025
0.86
3
Age-Associated Proteomic Changes in Human Spermatozoa.
PMID: 40649876
Int J Mol Sci · 2025
0.71
4
Temporary serine protease inhibition and the role of SPINK2 in human bone marrow.
PMID: 37378330
iScience · 2023
0.57
5
Structures of neutrophil serine protease 4 reveal an unusual mechanism of substrate recognition by a trypsin-fold protease.
PMID: 25156428
Structure · 2014
0.43