KLK5 Gene (Protein Coding)

Kallikrein Related Peptidase 5

GC19M050943
GIFtS:
42
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. Its expression is up-regulated by estrogen... See more...

Aliases for KLK5 Gene

Aliases for KLK5 Gene

  • Kallikrein Related Peptidase 5 2 3 5
  • KLK-L2 2 3 4
  • SCTE 2 3 4
  • Stratum Corneum Tryptic Enzyme 3 4
  • Kallikrein-Like Protein 2 3 4
  • Kallikrein-5 3 4
  • Kallikrein 5 2
  • EC 3.4.21.4 51
  • EC 3.4.21.- 4
  • EC 3.4.21 51
  • KLKL2 3
  • KLK5 5

External Ids for KLK5 Gene

Previous GeneCards Identifiers for KLK5 Gene

  • GC19M052075
  • GC19M051807
  • GC19M056122
  • GC19M056138
  • GC19M051446
  • GC19M047780

Summaries for KLK5 Gene

Entrez Gene Summary for KLK5 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. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLK5 Gene

KLK5 (Kallikrein Related Peptidase 5) is a Protein Coding gene. Diseases associated with KLK5 include Netherton Syndrome and Facial Dermatosis. Among its related pathways are Collagen chain trimerization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is KLK4.

UniProtKB/Swiss-Prot Summary for KLK5 Gene

Gene Wiki entry for KLK5 Gene

Additional gene information for KLK5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLK5 Gene

Genomics for KLK5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KLK5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J050951 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 256.8 +0.6 566 1.8 MCM7 SCRT1 CREB1 ZNF366 KLK5 ENSG00000269495 KLK10 KLK4
GH19J050968 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 8.9 -16.0 -16003 2 ZNF217 MBD2 GABPB1 CTBP1 SIN3A JUND SMARCE1 MAZ EGR1 DPF2 KLK6 ENSG00000267879 KLK7 KLK5 ENSG00000269495 ZNF473 LOC105372442
GH19J050861 Enhancer 0.3 dbSUPER 5.9 +90.9 90860 2 ZNF316 KLK2 lnc-KLK3-2 KLK15 KLK1 LINC01869 KLK4 SNORD88C C19orf48 SNORD88A SNORD88B
GH19J050922 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 0.3 +31.4 31392 2.6 DEK CTCF ZIC2 CEBPB SIN3A REST TRIM22 SMC3 RAD21 RFX5 ZNF473 SIGLEC9 HSALNG0127150 KLK4 KLK5
GH19J050929 Enhancer 0.9 Ensembl ENCODE 0.3 +23.0 22990 0.7 IKZF1 CTCF ARNT REST VEZF1 TRIM22 SMC3 RAD21 SKIL KLF16 HSALNG0127151 KLK6 KLK2 LINC01869 SNORD88C C19orf48 CTU1 PPIAP59 KLK4 KLK5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLK5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLK5

Top Transcription factor binding sites by QIAGEN in the KLK5 gene promoter:
  • AML1a
  • AREB6
  • Meis-1
  • Meis-1a
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Nkx2-5

Genomic Locations for KLK5 Gene

Latest Assembly
chr19:50,943,299-50,953,093
(GRCh38/hg38)
Size:
9,795 bases
Orientation:
Minus strand

Previous Assembly
chr19:51,446,559-51,456,294
(GRCh37/hg19 by Entrez Gene)
Size:
9,736 bases
Orientation:
Minus strand

chr19:51,446,559-51,456,349
(GRCh37/hg19 by Ensembl)
Size:
9,791 bases
Orientation:
Minus strand

Genomic View for KLK5 Gene

Genes around KLK5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLK5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLK5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KLK5 Gene

Proteins for KLK5 Gene

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  3. Assay products for research

  • Protein details for KLK5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y337-KLK5_HUMAN
    Recommended name:
    Kallikrein-5
    Protein Accession:
    Q9Y337
    Secondary Accessions:
    • A0A024R4G4
    • Q53ZR3
    • Q9HBG8

    Protein attributes for KLK5 Gene

    Size:
    293 amino acids
    Molecular mass:
    32020 Da
    Quaternary structure:
    • Interacts with SPINK9.
    SequenceCaution:
    • Sequence=AAG33358.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAG33358.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KLK5 Gene

neXtProt entry for KLK5 Gene

Protein Expression for KLK5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for KLK5 Gene

Q9Y337:
  • DSGGPVVCNG
  • DSCQGDSGG
  • CQGDSGGP

Post-translational modifications for KLK5 Gene

  • Glycosylation at Asn69, Asn173, Asn208, and Asn252
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for KLK5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for KLK5 Gene

Gene Families for KLK5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted secreted proteins

Protein Domains for KLK5 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
ProtoNet:

Suggested Antigen Peptide Sequences for KLK5 Gene

GenScript: Design optimal peptide antigens:
  • Stratum corneum tryptic enzyme (KLK5_HUMAN)
  • Kallikrein 5, isoform CRA_a (Q53ZR3_HUMAN)
  • Kallikrein 5, isoform CRA_b (Q6S9W8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y337

UniProtKB/Swiss-Prot:

KLK5_HUMAN :
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
Family:
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
genes like me logo Genes that share domains with KLK5: view

Function for KLK5 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for KLK5 Gene

UniProtKB/Swiss-Prot Function:
May be involved in desquamation.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Zn2+.

Enzyme Numbers (IUBMB) for KLK5 Gene

Phenotypes From GWAS Catalog for KLK5 Gene

Gene Ontology (GO) - Molecular Function for KLK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,NAS 11054574
GO:0005515 protein binding IPI 19194479
GO:0008233 peptidase activity IEA,IMP 17012259
GO:0008236 serine-type peptidase activity IEA,TAS 10514489
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KLK5: view
genes like me logo Genes that share phenotypes with KLK5: view

Animal Models for KLK5 Gene

MGI Knock Outs for KLK5:
  • Klk5 Klk5<tm2b(KOMP)Wtsi>
  • Klk5 Klk5<tm2a(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for KLK5

miRNA for KLK5 Gene

miRTarBase miRNAs that target KLK5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLK5

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLK5 Gene

Localization for KLK5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLK5 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 KLK5 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KLK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS,IMP 17012259
GO:0005829 cytosol TAS --
GO:0030141 secretory granule IBA 21873635
GO:0097209 epidermal lamellar body IDA 15675955
genes like me logo Genes that share ontologies with KLK5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLK5 Gene

Pathways & Interactions for KLK5 Gene

PathCards logo

SuperPathways for KLK5 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
2 Keratinization
Formation of the cornified envelope
.33
Keratinization
.33
3 MSP-RON Signaling
MSP-RON Signaling
-
4 Developmental Biology
Developmental Biology
.51
genes like me logo Genes that share pathways with KLK5: view

Pathways by source for KLK5 Gene

3 Qiagen pathways for KLK5 Gene
  • Blood Coagulation Cascade
  • Intrinsic Prothrombin Activation Pathway
  • MSP-RON Signaling

Gene Ontology (GO) - Biological Process for KLK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002803 positive regulation of antibacterial peptide production IBA,IMP 17012259
GO:0006508 proteolysis IEA --
GO:0008544 epidermis development TAS 10514489
GO:0022617 extracellular matrix disassembly IBA 21873635
GO:0045745 positive regulation of G protein-coupled receptor signaling pathway IDA 16885167
genes like me logo Genes that share ontologies with KLK5: view

No data available for SIGNOR curated interactions for KLK5 Gene

Drugs & Compounds for KLK5 Gene

Products:

  1. Drug products for research

(2) Drugs for KLK5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for KLK5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLK5: view

Transcripts for KLK5 Gene

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mRNA/cDNA for KLK5 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLK5

Alternative Splicing Database (ASD) splice patterns (SP) for KLK5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: -
SP2:
SP3: - -
SP4: -
SP5:

Relevant External Links for KLK5 Gene

GeneLoc Exon Structure for
KLK5

Expression for KLK5 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLK5 Gene

mRNA expression in normal human tissues for KLK5 Gene
mRNA expression by BioGPS for KLK5 GenemRNA expression by GTEx for KLK5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLK5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x21.5) and Skin - Not Sun Exposed (Suprapubic) (x17.7).

Protein differential expression in normal tissues from HIPED for KLK5 Gene

This gene is overexpressed in Testis (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLK5 Gene



Protein tissue co-expression partners for KLK5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLK5

SOURCE GeneReport for Unigene cluster for KLK5 Gene:

Hs.50915

mRNA Expression by UniProt/SwissProt for KLK5 Gene:

Q9Y337-KLK5_HUMAN
Tissue specificity: Expressed in skin, breast, brain and testis. Expressed at the stratum granulosum of palmar skin.

Evidence on tissue expression from TISSUES for KLK5 Gene

  • Skin(4.6)
genes like me logo Genes that share expression patterns with KLK5: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLK5 Gene

Orthologs for KLK5 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLK5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KLK5 30 31
  • 99.09 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KLK5 30 31
  • 81.46 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KLK5 30 31
  • 80.09 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Klk5 30 17 31
  • 75.49 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia LOC102546758 30
  • 73.44 (n)
Oppossum
(Monodelphis domestica)
 Mammalia KLK5 31
  • 56 (a)
 OneToOne
Species where no ortholog for KLK5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • 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 Vase (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 KLK5 Gene

ENSEMBL:
Gene Tree for KLK5 (if available)
TreeFam:
Gene Tree for KLK5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLK5: view image

Paralogs for KLK5 Gene

Paralogs for KLK5 Gene

(54) SIMAP similar genes for KLK5 Gene using alignment to 3 proteins:

  • KLK5_HUMAN
  • M0QXX2_HUMAN
  • Q6S9W8_HUMAN

Pseudogenes.org Pseudogenes for KLK5 Gene

genes like me logo Genes that share paralogs with KLK5: view

Variants for KLK5 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLK5 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs183854 - p.Asp153Asn
rs2232532 - p.Gly55Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KLK5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KLK5 Gene

Variant ID Type Subtype PubMed ID
esv3583474 CNV loss 25503493
nsv1140251 OTHER inversion 24896259

Variation tolerance for KLK5 Gene

Residual Variation Intolerance Score: 75.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLK5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLK5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLK5 Gene

Disorders for KLK5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KLK5 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
netherton syndrome
  • neth
facial dermatosis
  • facial dermatoses
ovarian cancer
  • ovarian cancer, somatic
rosacea
  • acne roscea
tinea barbae
  • dermatophytosis of beard
- elite association - COSMIC cancer census association via MalaCards
Search KLK5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLK5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KLK5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLK5 Gene

Publications for KLK5 Gene

  1. Purification, molecular cloning, and expression of a human stratum corneum trypsin-like serine protease with possible function in desquamation. (PMID: 10514489) Brattsand M … Egelrud T (The Journal of biological chemistry 1999) 2 3 4 23
  2. SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor. (PMID: 19194479) Brattsand M … Egelrud T (The Journal of investigative dermatology 2009) 3 4 23
  3. Kallikrein-mediated proteolysis regulates the antimicrobial effects of cathelicidins in skin. (PMID: 17012259) Yamasaki K … Gallo RL (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006) 2 3 23
  4. The new kallikrein-like gene, KLK-L2. Molecular characterization, mapping, tissue expression, and hormonal regulation. (PMID: 10608802) Yousef GM … Diamandis EP (The Journal of biological chemistry 1999) 2 3 23
  5. Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer. (PMID: 20424135) Klein RJ … Lilja H (Cancer prevention research (Philadelphia, Pa.) 2010) 3 41

ExternalLinks

View latest publications for KLK5 gene in Mastermind

Products for KLK5 Gene

Sources for KLK5 Gene