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3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TYSND1
trypsin like peroxisomal matrix peptidase 1
Chromosome 10 · 10q22.1
NCBI Gene: 219743Ensembl: ENSG00000156521.15HGNC: HGNC:28531UniProt: Q2T9J0
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protease bindingserine-type endopeptidase activityprotein bindingproteolysisdiaphragm diseaseazoospermiacongenital disorder of glycosylation type IIhemochromatosis type 2A
✦AI Summary

TYSND1 (trypsin-like peroxisomal matrix peptidase 1) is a serine protease that functions as a critical regulator of peroxisomal protein processing and lipid metabolism. TYSND1 mediates removal of leader peptides from PTS2-containing proteins and processes multiple PTS1-containing enzymes involved in very-long-chain fatty acid β-oxidation 1. The enzyme catalyzes proteolytic maturation of key β-oxidation enzymes including Acox1, Hsd17b4, and ScpX, with TYSND1 knockdown resulting in accumulation of premature enzyme forms and significantly reduced peroxisomal fatty acid oxidation capacity 1. TYSND1's protease activity is self-regulated through autocleavage from a 60-kDa form to inactivated 15- and 45-kDa fragments, which are subsequently degraded by peroxisomal Lon protease 1. In vivo, TYSND1 deficiency causes peroxisomal localization defects of PTS2 substrates including Phyh and Agps, resulting in male infertility with acrosomal abnormalities and liver dysfunction following phytanol exposure—phenotypes resembling Zellweger syndrome spectrum disorders 2. TYSND1 expression is upregulated in lipid-related metabolic processes via PPAR signaling during inflammatory stress 3, suggesting its role extends beyond basal fatty acid catabolism to adaptive lipid metabolism responses.

Sources cited
1
TYSND1 processes PTS1-containing proteins, cleaves PTS2 presequences, and is the key regulator of peroxisomal β-oxidation; its activity is controlled by self-cleavage and PsLon-mediated degradation
PMID: 22002062
2
TYSND1 knockout mice show impaired peroxisomal localization of PTS2 enzymes, male infertility with acrosomal defects, and liver dysfunction upon phytanol administration, indicating necessity for PTS2 substrate function
PMID: 23459139
3
TYSND1 expression is activated in lipid-related metabolic processes and PPAR signaling pathway during LPS-induced inflammatory stress in LBP-deficient conditions
PMID: 35005033
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
diaphragm diseaseOpen Targets
0.07Suggestive
azoospermiaOpen Targets
0.06Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.04Suggestive
hemochromatosis type 2AOpen Targets
0.04Suggestive
spermatogenic failure 65Open Targets
0.04Suggestive
spermatogenic failure 42Open Targets
0.04Suggestive
spermatogenic failure 54Open Targets
0.04Suggestive
spermatogenic failure 84Open Targets
0.04Suggestive
spermatogenic failure 93Open Targets
0.04Suggestive
spermatogenic failure 51Open Targets
0.04Suggestive
spermatogenic failure 72Open Targets
0.04Suggestive
spermatogenic failure 39Open Targets
0.04Suggestive
spermatogenic failure 56Open Targets
0.04Suggestive
spermatogenic failure 92Open Targets
0.04Suggestive
spermatogenic failure 94Open Targets
0.04Suggestive
spermatogenic failure 78Open Targets
0.04Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.04Suggestive
spermatogenic failure 86Open Targets
0.04Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.04Suggestive
spermatogenic failure 18Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEX7Protein interaction85%PEX10Protein interaction85%PEX13Protein interaction85%PEX14Protein interaction85%PHYHProtein interaction85%GNPATProtein interaction85%
Tissue Expression6 tissues
Liver
100%
Ovary
80%
Lung
51%
Heart
41%
Bone Marrow
36%
Brain
20%
Gene Interaction Network
Click a node to explore
TYSND1PEX7PEX10PEX13PEX14PHYHGNPAT
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q2T9J0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.78–1.42]
RankingsWhere TYSND1 stands among ~20K protein-coding genes
  • #11,444of 20,598
    Most Researched33
  • #14,666of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedTYSND1
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Lipopolysaccharide-Induced Transcriptional Changes in LBP-Deficient Rat and Its Possible Implications for Liver Dysregulation during Sepsis.
PMID: 35005033
J Immunol Res · 2021
1.00
2
Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid β-oxidation in peroxisomal matrix.
PMID: 22002062
J Biol Chem · 2011
0.67
3
Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility.
PMID: 23459139
PLoS Genet · 2013
0.33