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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLK1
kallikrein 1
Chromosome 19 · 19q13.33
NCBI Gene: 3816Ensembl: ENSG00000167748.12HGNC: HGNC:6357UniProt: A0A1R3UCD2
126PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomenucleuszymogen activationGO:0005615nephrolithiasisbladder calculusneuroinflammatory disorderureterolithiasis
✦AI Summary

KLK1 (kallikrein 1) is a serine-type endopeptidase located on chromosome 19 that functions as a key component of the kallikrein-kinin system 1. Primary roles include regulation of systemic arterial blood pressure, zymogen activation, and microbial defense through cleavage of Neisseria meningitidis NHBA in saliva 1. KLK1 maintains intestinal mucosal barrier integrity by suppressing bradykinin receptor B1-mediated fibroblast phenotypic transition, with reduced expression observed in inflammatory bowel disease and colorectal cancer 2. The gene has emerged as a candidate risk locus for idiopathic pulmonary arterial hypertension (IPAH), identified through genome-wide exome sequencing with variants accounting for approximately 0.4% of PAH Biobank cases; KLK1 variant carriers show later disease onset and moderate phenotypes compared to BMPR2 carriers 3. However, KLK1 was classified as having only limited evidence for PAH causality in clinical genetics guidelines 4. Additionally, KLK1 is implicated in acute kidney injury-to-chr19 kidney disease progression and appears altered in autism spectrum disorder, where it contributes to neuroinflammation 56. Recombinant KLK1 (DM199) shows therapeutic promise in stroke treatment with fewer side effects than conventional tPA 7. KLK1 also participates in asthma pathogenesis and viral respiratory infections 8.

Sources cited
1
KLK1 is a serine endopeptidase on chromosome 19 that is a key component of the kallikrein-kinin system with roles in physiological systems including neural development
PMID: 18344018
2
KLK1 identified as novel risk gene for idiopathic PAH with genome-wide significance, accounting for ~0.4% of PAH cases, with variants showing later mean age of onset
PMID: 31727138
3
KLK1 classified as having limited evidence for causal effects in pulmonary arterial hypertension
PMID: 37422716
4
KLK1 maintains epithelial barrier function and suppresses B1R-mediated fibroblast phenotypic transition; reduced in colitis and colorectal cancer
PMID: 40859429
5
DM199, recombinant KLK1, shows therapeutic potential in stroke treatment with fewer side effects than tPA
PMID: 36460240
6
KLK1 identified as biomarker associated with acute kidney injury-to-chronic kidney disease progression
PMID: 41098724
7
KLK1 altered in autism spectrum disorder and involved in neuroinflammation and immune regulation
PMID: 39870302
8
KLK1 involved in asthma pathogenesis and may be associated with exacerbation caused by rhinovirus
PMID: 29604204
Disease Associationsⓘ20
nephrolithiasisOpen Targets
0.42Moderate
bladder calculusOpen Targets
0.32Weak
neuroinflammatory disorderOpen Targets
0.30Weak
ureterolithiasisOpen Targets
0.29Weak
kallikrein, decreased urinary activity ofOpen Targets
0.18Weak
acute kidney injuryOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.08Suggestive
acute myocardial infarctionOpen Targets
0.07Suggestive
colitisOpen Targets
0.07Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.07Suggestive
Townes-Brocks syndromeOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.06Suggestive
pulmonary arterial hypertensionOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
strokeOpen Targets
0.04Suggestive
pulmonary hypertension, primary, 1Open Targets
0.04Suggestive
Generalized arterial calcification of infancyOpen Targets
0.04Suggestive
dilated cardiomyopathy 1IOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SERPINA4Protein interaction100%KNG1Protein interaction95%KLK2Protein interaction94%SERPINA5Protein interaction79%KLK3Shared pathway75%C1RLShared pathway67%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
96%
Heart
62%
Ovary
40%
Liver
35%
Brain
16%
Gene Interaction Network
Click a node to explore
KLK1SERPINA4KNG1KLK2SERPINA5KLK3C1RL
PROTEIN STRUCTURE
Preparing viewer…
PDB1SPJ · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.26LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.61–1.26]
RankingsWhere KLK1 stands among ~20K protein-coding genes
  • #3,727of 20,598
    Most Researched126 · top quartile
  • #13,280of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedKLK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Stroke: Molecular mechanisms and therapies: Update on recent developments.
PMID: 36460240
Neurochem Int · 2023
1.00
2
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
PMID: 37422716
Genet Med · 2023
0.90
3
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.
PMID: 31727138
Genome Med · 2019
0.80
4
KLK1 as an Epithelial-Specific Brake Inhibits Colorectal Tumorigenesis by Suppressing B1R-Mediated Fibroblast Phenotypic Transition.
PMID: 40859429
Adv Sci (Weinh) · 2025
0.70
5
Kallikrein-related peptidases.
PMID: 18344018
Cell Mol Life Sci · 2008
0.60