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Aliases for KLK1 Gene

Aliases for KLK1 Gene

  • Kallikrein 1 2 3 5
  • Kidney/Pancreas/Salivary Gland Kallikrein 3 4
  • Kallikrein 1, Renal/Pancreas/Salivary 2 3
  • Tissue Kallikrein 3 4
  • Kallikrein Serine Protease 1 3
  • Glandular Kallikrein 1 3
  • Kallikrein-1 3
  • EC 4
  • KLKR 3
  • Klk6 3
  • HK1 3

External Ids for KLK1 Gene

Previous GeneCards Identifiers for KLK1 Gene

  • GC19M051951
  • GC19M051683
  • GC19M055998
  • GC19M056014
  • GC19M051322
  • GC19M047656

Summaries for KLK1 Gene

Entrez Gene Summary for KLK1 Gene

  • Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLK1 Gene

KLK1 (Kallikrein 1) is a Protein Coding gene. Diseases associated with KLK1 include Kallikrein, Decreased Urinary Activity Of and Shwartzman Phenomenon. Among its related pathways are Cell adhesion_ECM remodeling and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is KLK2.

UniProtKB/Swiss-Prot for KLK1 Gene

  • Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.

Gene Wiki entry for KLK1 Gene

Additional gene information for KLK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLK1 Gene

Genomics for KLK1 Gene

GeneHancer (GH) Regulatory Elements for KLK1 Gene

Promoters and enhancers for KLK1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J050819 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 656.1 +1.8 1825 4.3 HDGF SMAD1 ARNT YBX1 ZNF48 POLR2B ZNF766 ATF7 ZNF263 SP3 KLK1 NUP62 POLD1 PTOV1-AS2 CTU1 CLEC11A ZNF175 SIGLEC6 PNKP ENSG00000268047
GH19J050720 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 10.4 +100.4 100431 5.7 HDGF SIN3A ZNF2 ZBTB7B POLR2B CBX5 E2F8 FOS KLF13 SP3 CLEC11A NUP62 ZNF175 CTU1 C19orf48 GPR32 ENSG00000268047 AKT1S1 SNORD88A SNORD88B
GH19J050802 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 6.8 +19.5 19504 4.2 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 C19orf48 SNORD88C GC19M050843 GC19M050833 POLD1 PTOV1-AS2 NUP62 PNKP ZNF175 CTU1
GH19J050896 Enhancer 1.2 Ensembl ENCODE 11.4 -73.3 -73314 1.8 HDGF PKNOX1 IRF4 ZNF766 ZNF143 FOS SP3 JUNB REST ZNF592 KLKP1 ZNF175 ZNF577 NUP62 KLK2 LINC01869 KLK15 KLK1 KLK11 POLD1
GH19J050727 Enhancer 1.1 Ensembl ENCODE 10.4 +95.3 95305 1.3 HDGF PKNOX1 ATF1 POLR2B CBX5 ZNF143 FOS ATF7 SP3 NCOA1 GPR32 SNORD88A SNORD88B SNORD88C C19orf48 LINC01869 KLK1 KLK15 FUZ CLEC11A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLK1 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • c-Myc
  • Max1

Genomic Locations for KLK1 Gene

Genomic Locations for KLK1 Gene
4,642 bases
Minus strand
4,640 bases
Minus strand

Genomic View for KLK1 Gene

Genes around KLK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLK1 Gene

Proteins for KLK1 Gene

  • Protein details for KLK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q66US9
    • Q86U61
    • Q8TCV8
    • Q9BS53
    • Q9NQU4
    • Q9UD19
    • Q9UMJ1

    Protein attributes for KLK1 Gene

    262 amino acids
    Molecular mass:
    28890 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KLK1 Gene

    Alternative splice isoforms for KLK1 Gene


neXtProt entry for KLK1 Gene

Post-translational modifications for KLK1 Gene

  • The O-linked polysaccharides on Ser-93, Ser-104 and Ser-167 are probably the mucin type linked to GalNAc. In PubMed:3163150, GalNAc was detected with the corresponding peptides but not located.
  • Glycosylation at Ser167, isoforms=2165, Asn108, Ser104, Asn102, and Ser93
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • KLK1_HUMAN (172)

Other Protein References for KLK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLK1 Gene

Domains & Families for KLK1 Gene

Gene Families for KLK1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for KLK1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family. Kallikrein subfamily.
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
genes like me logo Genes that share domains with KLK1: view

Function for KLK1 Gene

Molecular function for KLK1 Gene

UniProtKB/Swiss-Prot Function:
Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.
UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage of Arg- -Xaa bonds in small molecule substrates. Highly selective action to release kallidin (lysyl-bradykinin) from kininogen involves hydrolysis of Met- -Xaa or Leu- -Xaa.
GENATLAS Biochemistry:
kallikrein 1,renal/pancreas/salivary

Enzyme Numbers (IUBMB) for KLK1 Gene

Phenotypes From GWAS Catalog for KLK1 Gene

Gene Ontology (GO) - Molecular Function for KLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity NAS 7749372
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KLK1: view
genes like me logo Genes that share phenotypes with KLK1: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KLK1 Gene

Localization for KLK1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLK1 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19232384
GO:0030141 secretory granule IBA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with KLK1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KLK1 Gene

Pathways & Interactions for KLK1 Gene

genes like me logo Genes that share pathways with KLK1: view

Gene Ontology (GO) - Biological Process for KLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002526 acute inflammatory response IBA --
GO:0003073 regulation of systemic arterial blood pressure IBA --
GO:0006508 proteolysis IEA --
GO:0031638 zymogen activation IBA --
genes like me logo Genes that share ontologies with KLK1: view

No data available for SIGNOR curated interactions for KLK1 Gene

Drugs & Compounds for KLK1 Gene

(9) Drugs for KLK1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aluminium Approved, Investigational Pharma Target, inhibitor 0
Aprotinin Approved, Investigational, Withdrawn Pharma Target Inhibitor of bovine pancreatic trypsin 25
Nafamostat Approved, Investigational Pharma Channel blocker, Target, inhibitor 4
Ecallantide Approved, Investigational Pharma inhibitor 0
Aniline Experimental Pharma Target 0

(3) Additional Compounds for KLK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLK1: view

Transcripts for KLK1 Gene

mRNA/cDNA for KLK1 Gene

Unigene Clusters for KLK1 Gene

Kallikrein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5

Relevant External Links for KLK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLK1 Gene

mRNA differential expression in normal tissues according to GTEx for KLK1 Gene

This gene is overexpressed in Pancreas (x47.6).

Protein differential expression in normal tissues from HIPED for KLK1 Gene

This gene is overexpressed in Urine (34.8) and Pancreatic juice (21.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLK1 Gene

Protein tissue co-expression partners for KLK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLK1 Gene:


SOURCE GeneReport for Unigene cluster for KLK1 Gene:


mRNA Expression by UniProt/SwissProt for KLK1 Gene:

Tissue specificity: Isoform 2 is expressed in pancreas, salivary glands, kidney, colon, prostate gland, testis, spleen and the colon adenocarcinoma cell line T84.

Evidence on tissue expression from TISSUES for KLK1 Gene

  • Pancreas(4.8)
  • Kidney(4.7)
  • Urine(4.4)
  • Skin(2.6)
  • Blood(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with KLK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLK1 Gene

Orthologs for KLK1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLK1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia KLK1 33
  • 81.79 (n)
(Bos Taurus)
Mammalia KLK1 33
  • 80.9 (n)
-- 34
  • 26 (a)
(Rattus norvegicus)
Mammalia LOC100911764 33
  • 71.28 (n)
(Mus musculus)
Mammalia Klk1 34
  • 65 (a)
Klk1b5 34
  • 64 (a)
Klk1b1 34
  • 62 (a)
Klk1b4 34
  • 62 (a)
Klk1b11 34
  • 62 (a)
Klk1b22 34
  • 61 (a)
Klk1b9 34
  • 60 (a)
Klk1b24 34
  • 59 (a)
Klk1b26 34
  • 59 (a)
Klk1b8 34
  • 59 (a)
Klk1b27 34
  • 59 (a)
Klk1b21 34
  • 59 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 40 (a)
Species where no ortholog for KLK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KLK1 Gene

Gene Tree for KLK1 (if available)
Gene Tree for KLK1 (if available)
Evolutionary constrained regions (ECRs) for KLK1: view image

Paralogs for KLK1 Gene

Paralogs for KLK1 Gene Pseudogenes for KLK1 Gene

genes like me logo Genes that share paralogs with KLK1: view

Variants for KLK1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KLK1 Gene

Genetic variations in KLK1 are the cause of a decreased in urinary kallikrein activity [MIM:615953]. The His-77 mutation dramatically reduces the activity of the enzyme in the urine. There is a 50 to 60% reduction in urinary kallikrein activity in His-77 individuals, but renal and hormonal adaptation to dietary changes in sodium and potassium are unaffected. However, in studies of brachial artery function, His-77 individuals consistently exhibited an increase in wall shear stress and a paradoxical reduction in artery diameter and lumen compared to Arg-77 individuals. This partial genetic deficiency in kallikrein activity is associated with a form of arterial dysfunction involving inappropriate inward remodeling of the brachial artery despite a chronic increase in shear stress.

Sequence variations from dbSNP and Humsavar for KLK1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs5515 affects, Kallikrein, decreased urinary activity of 50,820,420(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000074745 -- 50,820,855(-) G/A intron_variant
rs1000211094 -- 50,820,458(-) G/T intron_variant
rs1000435465 -- 50,820,024(-) C/A coding_sequence_variant, missense_variant
rs1000549668 -- 50,825,501(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KLK1 Gene

Variant ID Type Subtype PubMed ID
dgv203n21 CNV loss 19592680
dgv204n21 CNV loss 19592680
esv3583463 CNV loss 25503493
esv3583464 CNV loss 25503493
nsv1140251 OTHER inversion 24896259

Variation tolerance for KLK1 Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.43; 77.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLK1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for KLK1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KLK1 Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kallikrein, decreased urinary activity of
shwartzman phenomenon
  • shwartzman reaction
- elite association - COSMIC cancer census association via MalaCards
Search KLK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLK1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KLK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLK1 Gene

Publications for KLK1 Gene

  1. KLK1 gene polymorphisms are not associated with lupus nephritis in a Chinese Han population. (PMID: 20516044) Zhou XJ … Zhang H (The Journal of rheumatology 2010) 3 22 44 58
  2. A coding polymorphism of the kallikrein 1 gene is associated with essential hypertension: a tagging SNP-based association study in a Chinese Han population. (PMID: 17762646) Zhao W … Gu D (Journal of hypertension 2007) 3 22 44 58
  3. Significance of the tissue kallikrein promoter and transforming growth factor-beta1 polymorphisms with renal progression in children with vesicoureteral reflux. (PMID: 15086490) Lee-Chen GJ … Lin CY (Kidney international 2004) 3 22 44 58
  4. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PMID: 15167446) Iwai N … Shioji K (Journal of hypertension 2004) 3 22 44 58
  5. Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity. (PMID: 11912256) Slim R … Alhenc-Gelas F (Journal of the American Society of Nephrology : JASN 2002) 3 4 44 58

Products for KLK1 Gene

Sources for KLK1 Gene

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