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KLK7 Gene(Protein Coding)

Kallikrein Related Peptidase 7

GCID:
GC19M050977
GIFtS:
59
Genes Participants
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Aliases for KLK7 Gene

Aliases for KLK7 Gene

  • Kallikrein Related Peptidase 7 2 3 5
  • Kallikrein 7 (Chymotryptic, Stratum Corneum) 2 3
  • Stratum Corneum Chymotryptic Enzyme 3 4
  • Serine Protease 6 3 4
  • PRSS6 3 4
  • SCCE 3 4
  • HK7 3 4
  • Signal Protein 3
  • EC 3.4.21.117 4
  • Kallikrein-7 3
  • EC 3.4.21 61
  • HSCCE 4

External Ids for KLK7 Gene

Previous HGNC Symbols for KLK7 Gene

  • PRSS6

Previous GeneCards Identifiers for KLK7 Gene

  • GC19M052110
  • GC19M051841
  • GC19M056155
  • GC19M056171
  • GC19M051479
  • GC19M047813

Summaries for KLK7 Gene

Entrez Gene Summary for KLK7 Gene

  • This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011]

GeneCards Summary for KLK7 Gene

KLK7 (Kallikrein Related Peptidase 7) is a Protein Coding gene. Diseases associated with KLK7 include Netherton Syndrome and Atopic Dermatitis. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is KLK8.

UniProtKB/Swiss-Prot for KLK7 Gene

  • May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at 14-Tyr- -Gln-15 and insulin B chain at 6-Leu- -Cys-7, 16-Tyr- -Leu-17, 25-Phe- -Tyr-26 and 26-Tyr- -Thr-27. Could play a role in the activation of precursors to inflammatory cytokines.

Gene Wiki entry for KLK7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLK7 Gene

Genomics for KLK7 Gene

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  1. Regulatory Element

Regulatory Elements for KLK7 Gene

Enhancers for KLK7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G050968 1 ENCODE 11.3 +15.0 15003 2.0 ATF1 ARNT SIN3A E2F7 ZNF48 ZNF766 ELK1 CBX5 FOS CAVIN1 KLK6 KLK7 KLK5 ENSG00000269495 ZNF473 ENSG00000267879
GH19G050991 0.6 ENCODE 8.2 -8.6 -8610 1.8 GATA3 JUND RFX1 ZNF366 SCRT2 FOSL2 FOS DPF2 KLK7 KLK8
GH19G050999 1.1 Ensembl ENCODE 0.4 -17.4 -17438 3.6 HDAC1 HDGF PKNOX1 ATF1 ZBTB40 EGR1 KLF13 CREM USF2 ZNF592 KLK8 KLK10 KLK7
GH19G050975 0.7 ENCODE 0.4 +8.2 8209 1.0 KLF1 CTBP1 GATA3 POLR2A FOSL2 FOS RCOR1 TCF7L2 MAZ E2F5 KLK6 KLK7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLK7 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KLK7 gene promoter:

Genomic Location for KLK7 Gene

Chromosome:
19
Start:
50,976,479 bp from pter
End:
50,984,099 bp from pter
Size:
7,621 bases
Orientation:
Minus strand

Genomic View for KLK7 Gene

Genes around KLK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLK7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KLK7 Gene

Proteins for KLK7 Gene

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  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KLK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49862-KLK7_HUMAN
    Recommended name:
    Kallikrein-7
    Protein Accession:
    P49862
    Secondary Accessions:
    • A8K0U5
    • Q8N5N9
    • Q8NFV7

    Protein attributes for KLK7 Gene

    Size:
    253 amino acids
    Molecular mass:
    27525 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KLK7 Gene

    Alternative splice isoforms for KLK7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLK7 Gene

Protein Expression for KLK7 Gene

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

Selected DME Specific Peptides for KLK7 Gene

P49862:
  • CNGDSGGP
  • VLTAAHC
  • GDSGGPL
  • SGGPLVC
  • WVLTAAH

Post-translational modifications for KLK7 Gene

  • Glycosylation at isoforms=2246
  • Modification sites at PhosphoSitePlus

Other Protein References for KLK7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

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Domains & Families for KLK7 Gene

Gene Families for KLK7 Gene

HGNC:

Protein Domains for KLK7 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KLK7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49862

UniProtKB/Swiss-Prot:

KLK7_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 KLK7: view

Function for KLK7 Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for KLK7 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of proteins with aromatic side chains in the P1 position.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Zn2+ and Cu2+ at low micromolar concentrations. Inhibited by SERPINA12.
UniProtKB/Swiss-Prot Function:
May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at 14-Tyr- -Gln-15 and insulin B chain at 6-Leu- -Cys-7, 16-Tyr- -Leu-17, 25-Phe- -Tyr-26 and 26-Tyr- -Thr-27. Could play a role in the activation of precursors to inflammatory cytokines.
UniProtKB/Swiss-Prot Induction:
By estrogens and glucocorticoids in a breast carcinoma cell line.

Enzyme Numbers (IUBMB) for KLK7 Gene

Gene Ontology (GO) - Molecular Function for KLK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IMP 17012259
GO:0008236 serine-type peptidase activity TAS 8034709
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KLK7: view
genes like me logo Genes that share phenotypes with KLK7: view

Animal Model Products

miRNA for KLK7 Gene

miRTarBase miRNAs that target KLK7

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLK7 Gene

Localization for KLK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLK7 Gene

Secreted. Note=In ovarian carcinoma, secreted and also observed at the apical membrane and in cytoplasm at the invasive front.

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 KLK7 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for KLK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IMP 17012259
GO:0097209 epidermal lamellar body IDA 15675955
genes like me logo Genes that share ontologies with KLK7: view

Pathways & Interactions for KLK7 Gene

genes like me logo Genes that share pathways with KLK7: view

Pathways by source for KLK7 Gene

Gene Ontology (GO) - Biological Process for KLK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002803 positive regulation of antibacterial peptide production IMP 17012259
GO:0006508 proteolysis IEA --
GO:0008544 epidermis development TAS 8034709
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with KLK7: view

No data available for SIGNOR curated interactions for KLK7 Gene

Drugs & Compounds for KLK7 Gene

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  1. Drug

(3) Drugs for KLK7 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-alanyl-N-[(1S,2R)-1-benzyl-2-hydroxypropyl]-L-alaninamide Experimental Pharma Target 0

(2) Additional Compounds for KLK7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLK7: view

Transcripts for KLK7 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KLK7 Gene

(4) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(61) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLK7 Gene

Kallikrein-related peptidase 7:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLK7 Gene

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

Relevant External Links for KLK7 Gene

GeneLoc Exon Structure for
KLK7
ECgene alternative splicing isoforms for
KLK7

Expression for KLK7 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLK7 Gene

mRNA expression in normal human tissues for KLK7 Gene
mRNA expression by BioGPS for KLK7 GenemRNA expression by GTEx for KLK7 Gene

mRNA differential expression in normal tissues according to GTEx for KLK7 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x14.9), Skin - Not Sun Exposed (Suprapubic) (x13.4), and Esophagus - Mucosa (x8.7).

Protein differential expression in normal tissues from HIPED for KLK7 Gene

This gene is overexpressed in Hair follicle (43.6) and Cervix (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLK7 Gene



Protein tissue co-expression partners for KLK7 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLK7 Gene:

KLK7

SOURCE GeneReport for Unigene cluster for KLK7 Gene:

Hs.151254

mRNA Expression by UniProt/SwissProt for KLK7 Gene:

P49862-KLK7_HUMAN
Tissue specificity: Abundantly expressed in the skin and is expressed by keratinocytes in the epidermis. Also expressed in the brain, mammary gland, cerebellum, spinal cord and kidney. Lower levels in salivary glands, uterus, thymus, thyroid, placenta, trachea and testis. Up-regulated in ovarian carcinoma, especially late-stage serous carcinoma, compared with normal ovaries and benign adenomas (at protein level).

Evidence on tissue expression from TISSUES for KLK7 Gene

  • Skin(4.7)
  • Nervous system(4.2)
  • Bone marrow(2.7)
genes like me logo Genes that share expression patterns with KLK7: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLK7 Gene

Orthologs for KLK7 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLK7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KLK7 34 35
  • 99.22 (n)
dog
(Canis familiaris)
 Mammalia KLK7 34
  • 85.75 (n)
cow
(Bos Taurus)
 Mammalia KLK7 34 35
  • 82.24 (n)
rat
(Rattus norvegicus)
 Mammalia Klk7 34
  • 79.29 (n)
mouse
(Mus musculus)
 Mammalia Klk7 34 16 35
  • 78.16 (n)
oppossum
(Monodelphis domestica)
 Mammalia KLK7 35
  • 59 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KLK7 35
  • 52 (a)
 OneToOne
Species where no ortholog for KLK7 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)
  • 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)
  • 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 KLK7 Gene

ENSEMBL:
Gene Tree for KLK7 (if available)
TreeFam:
Gene Tree for KLK7 (if available)

Paralogs for KLK7 Gene

Paralogs for KLK7 Gene

(84) SIMAP similar genes for KLK7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KLK7: view

Variants for KLK7 Gene

Sequence variations from dbSNP and Humsavar for KLK7 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000183595 -- 50,982,751(+) TTCCT(C/T)CCTCA intron-variant
rs1000193891 -- 50,976,126(+) TGTTT(A/G)CTTAC downstream-variant-500B
rs1000482602 -- 50,976,405(+) CCAGG(A/G)CTCAA downstream-variant-500B
rs1000622042 -- 50,977,801(+) CCACC(A/C)TAGCC intron-variant
rs1001623718 -- 50,979,087(+) GACTG(C/T)TCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLK7 Gene

Variant ID Type Subtype PubMed ID
esv1738203 OTHER inversion 17803354
esv2718760 CNV deletion 23290073
esv2718761 CNV deletion 23290073
esv2718763 CNV deletion 23290073
nsv1064207 CNV loss 25217958
nsv1140251 OTHER inversion 24896259
nsv1142942 CNV tandem duplication 24896259
nsv513532 CNV insertion 21212237

Variation tolerance for KLK7 Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLK7 Gene

Human Gene Mutation Database (HGMD)
KLK7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLK7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLK7 Gene

Disorders for KLK7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KLK7 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
netherton syndrome
  • ichthyosis linearis circumflexa
atopic dermatitis
  • allergic eczema
occupational dermatitis
  • occupational allergic contact dermatitis
dermatitis
  • eczema
esophagus squamous cell carcinoma
  • esophageal squamous cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search KLK7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLK7

Genetic Association Database (GAD)
KLK7
Human Genome Epidemiology (HuGE) Navigator
KLK7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLK7
genes like me logo Genes that share disorders with KLK7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLK7 Gene

Publications for KLK7 Gene

  1. Cloning, expression, and characterization of stratum corneum chymotryptic enzyme. A skin-specific human serine proteinase. (PMID: 8034709) Hansson L. … Egelrud T. (J. Biol. Chem. 1994) 2 3 4 22 64
  2. Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. (PMID: 17989887) Hubiche T. … Boralevi F. (Acta Derm. Venereol. 2007) 3 22 46 64
  3. Genetic association between an AACC insertion in the 3'UTR of the stratum corneum chymotryptic enzyme gene and atopic dermatitis. (PMID: 15191543) Vasilopoulos Y. … Tazi-Ahnini R. (J. Invest. Dermatol. 2004) 3 22 46 64
  4. Differential splicing of KLK5 and KLK7 in epithelial ovarian cancer produces novel variants with potential as cancer biomarkers. (PMID: 12738725) Dong Y. … Clements J.A. (Clin. Cancer Res. 2003) 3 4 22 64
  5. The KLK7 (PRSS6) gene, encoding for the stratum corneum chymotryptic enzyme is a new member of the human kallikrein gene family -- genomic characterization, mapping, tissue expression and hormonal regulation. (PMID: 10974542) Yousef G.M. … Diamandis E.P. (Gene 2000) 3 4 22 64

Products for KLK7 Gene

Sources for KLK7 Gene

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