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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
  • EC 3.4.21.35 4 63
  • Kallikrein Serine Protease 1 3
  • Glandular Kallikrein 1 3
  • EC 3.4.21 63
  • 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 Cerebral Hemorrhage and Gastroesophageal Junction Adenocarcinoma. Among its related pathways are Endocrine and other factor-regulated calcium reabsorption and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is KLK12.

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

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

Genomics for KLK1 Gene

Regulatory Elements for KLK1 Gene

Enhancers for KLK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KLK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLK1 Gene

Chromosome:
19
Start:
50,819,146 bp from pter
End:
50,823,787 bp from pter
Size:
4,642 bases
Orientation:
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:
    P06870-KLK1_HUMAN
    Recommended name:
    Kallikrein-1
    Protein Accession:
    P06870
    Secondary Accessions:
    • Q66US9
    • Q86U61
    • Q8TCV8
    • Q9BS53
    • Q9NQU4
    • Q9UD19
    • Q9UMJ1

    Protein attributes for KLK1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for KLK1 Gene

Proteomics data for KLK1 Gene at MOPED

Selected DME Specific Peptides 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 Ser 93, Asn 102, Ser 104, Asn 108, Asn 165, and Ser 167

Other Protein References for KLK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KLK1

Domains & Families for KLK1 Gene

Gene Families for KLK1 Gene

Suggested Antigen Peptide Sequences for KLK1 Gene

Graphical View of Domain Structure for InterPro Entry

P06870

UniProtKB/Swiss-Prot:

KLK1_HUMAN :
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
Domain:
  • Contains 1 peptidase S1 domain.
Family:
  • 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

GENATLAS Biochemistry:
kallikrein 1,renal/pancreas/salivary
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.
UniProtKB/Swiss-Prot Function:
Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.

Enzyme Numbers (IUBMB) for KLK1 Gene

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KLK1 Gene

Localization for KLK1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLK1 Gene COMPARTMENTS Subcellular localization image for KLK1 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

None

No data available for SIGNOR curated interactions for KLK1 Gene

Drugs & Compounds for KLK1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aprotinin Approved, Withdrawn Pharma Target Inhibitor of bovine pancreatic trypsin 24
Ecallantide Pharma inhibitor 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

Unigene Clusters for KLK1 Gene

Kallikrein 1:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1:
SP2:

Relevant External Links for KLK1 Gene

GeneLoc Exon Structure for
KLK1
ECgene alternative splicing isoforms for
KLK1

Expression for KLK1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for KLK1 Gene Hs.123107

mRNA Expression by UniProt/SwissProt for KLK1 Gene

P06870-KLK1_HUMAN
Tissue specificity: Isoform 2 is expressed in pancreas, salivary glands, kidney, colon, prostate gland, testis, spleen and the colon adenocarcinoma cell line T84.
genes like me logo Genes that share expression patterns with KLK1: view

Protein tissue co-expression partners for KLK1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia KLK1 35
  • 80.9 (n)
  • 72.69 (a)
-- 36
  • 26 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia KLK1 35
  • 81.79 (n)
  • 74.62 (a)
rat
(Rattus norvegicus)
Mammalia LOC100911764 35
  • 71.28 (n)
  • 63.08 (a)
mouse
(Mus musculus)
Mammalia Klk1 36
  • 65 (a)
ManyToMany
Klk1b1 36
  • 62 (a)
ManyToMany
Klk1b11 36
  • 62 (a)
ManyToMany
Klk1b21 36
  • 59 (a)
ManyToMany
Klk1b22 36
  • 61 (a)
ManyToMany
Klk1b24 36
  • 59 (a)
ManyToMany
Klk1b26 36
  • 59 (a)
ManyToMany
Klk1b27 36
  • 59 (a)
ManyToMany
Klk1b4 36
  • 62 (a)
ManyToMany
Klk1b5 36
  • 64 (a)
ManyToMany
Klk1b8 36
  • 59 (a)
ManyToMany
Klk1b9 36
  • 60 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 40 (a)
OneToMany
Species with no ortholog for KLK1:
  • 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

ENSEMBL:
Gene Tree for KLK1 (if available)
TreeFam:
Gene Tree for KLK1 (if available)

Paralogs for KLK1 Gene

Pseudogenes.org 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

KLK1_HUMAN-P06870
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 Sequence Context AA Info Type
rs5516 - 50,820,217(-) CCACC(C/G)AGGAA reference, missense
rs5517 - 50,819,976(-) AGTGC(A/G)AAAAA reference, missense
rs5515 - 50,820,420(-) GGGTC(A/G)CCACA reference, missense, utr-variant-5-prime
rs5518 - 50,819,954(-) GAAGG(A/C/T)GACAG reference, missense
rs1054713 -- 50,820,245(-) ACAGA(C/T)GCTGT reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv3977n71 CNV Loss 21882294
dgv203n21 CNV Loss 19592680
dgv204n21 CNV Loss 19592680

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)

Relevant External Links for KLK1 Gene

Human Gene Mutation Database (HGMD)
KLK1

Disorders for KLK1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KLK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cerebral hemorrhage
gastroesophageal junction adenocarcinoma
  • adenocarcinoma of cardioesophageal junction
shwartzman phenomenon
  • shwartzman reaction
- elite association - COSMIC cancer census association via MalaCards
Search KLK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLK1

Genetic Association Database (GAD)
KLK1
Human Genome Epidemiology (HuGE) Navigator
KLK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLK1
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. Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity. (PMID: 11912256) Slim R. … Alhenc-Gelas F. (J. Am. Soc. Nephrol. 2002) 3 4 48 67
  2. Human glandular Kallikrein genes: genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker. (PMID: 1684954) Richards R.I. … Shaw D. (Genomics 1991) 2 3 23
  3. KLK1 gene polymorphisms are not associated with lupus nephritis in a Chinese Han population. (PMID: 20516044) Zhou X.J. … Zhang H. (J. Rheumatol. 2010) 3 23
  4. Abundant expression of Kallikrein 1 gene in human keratinocytes was mediated by GATA3. (PMID: 19232384) Son d.o. .N. … Saijoh K. (Gene 2009) 3 23
  5. Expression of tissue and plasma kallikreins and kinin B1 and B2 receptors in lung cancer. (PMID: 18713009) Chee J. … Bhoola K.D. (Biol. Chem. 2008) 3 23

Products for KLK1 Gene

Sources for KLK1 Gene

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