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KLK7 Gene(Protein Coding)

Kallikrein Related Peptidase 7

GCID:
GC19M050977
GIFtS:
64
Genes Participants
UDN Logo

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
  • Kallikrein-Related Peptidase 7 3
  • Signal Protein 3
  • EC 3.4.21.117 4
  • EC 3.4.21 63
  • 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 Collagen biosynthesis and modifying enzymes and MSP-RON Signaling. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is KLK12.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLK7 Gene

Genomics for KLK7 Gene

Products:

  1. Regulatory Element

Regulatory Elements for KLK7 Gene

Enhancers for KLK7 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 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

Products:

  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

Proteomics data for KLK7 Gene at MOPED

Protein Expression for KLK7 Gene

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

Selected DME Specific Peptides for KLK7 Gene

P49862:

Post-translational modifications for KLK7 Gene

  • Glycosylation at Asn 246
  • Modification sites at PhosphoSitePlus

Other Protein References for KLK7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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 :
  • 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 KLK7: view

Function for KLK7 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

Phenotypes for KLK7 Gene

GenomeRNAi human phenotypes for KLK7:
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

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for KLK7 Gene COMPARTMENTS Subcellular localization image for KLK7 gene
Compartment Confidence
extracellular 5
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for KLK7 Gene

Pathways & Interactions for KLK7 Gene

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

Pathways by source for KLK7 Gene

Interacting Proteins for KLK7 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000375683%0d%0a9606.ENSP00000261769%0d%0a9606.ENSP00000365465%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000393557%0d%0a
Selected Interacting proteins: ENSP00000375683 P49862-KLK7_HUMAN for KLK7 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for KLK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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

Flow Cytometry 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 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



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).
genes like me logo Genes that share expression patterns with KLK7: view

Protein tissue co-expression partners for KLK7 Gene

Primer Products

Orthologs for KLK7 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLK7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia KLK7 35
  • 82.24 (n)
  • 76.64 (a)
KLK7 36
  • 75 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KLK7 35
  • 85.75 (n)
  • 82.91 (a)
mouse
(Mus musculus)
 Mammalia Klk7 35
  • 78.16 (n)
  • 75.86 (a)
Klk7 16
Klk7 36
  • 74 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia KLK7 35
  • 99.22 (n)
  • 99.22 (a)
KLK7 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Klk7 35
  • 79.29 (n)
  • 76.43 (a)
oppossum
(Monodelphis domestica)
 Mammalia KLK7 36
  • 59 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KLK7 36
  • 52 (a)
 OneToOne
Species with no ortholog for KLK7:
  • 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
rs12979918 -- 50,984,510(+) gccag(A/G)atggt upstream-variant-2KB
rs12980645 -- 50,978,769(+) gagag(A/C)CAGTA intron-variant
rs12985952 -- 50,983,205(+) ggagt(A/C)caggc intron-variant
rs995788 -- 50,985,190(-) cgtac(A/G)tgtcc upstream-variant-2KB
rs17853008 -- 50,982,365(+) GCAGT(A/G)AGATC intron-variant, reference, synonymous-codon, missense

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

Variant ID Type Subtype PubMed ID
nsv513532 CNV Insertion 21212237
esv2718760 CNV Deletion 23290073
esv1738203 OTHER Inversion 17803354
esv2718761 CNV Deletion 23290073
esv2718763 CNV Deletion 23290073

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

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

Disorders for KLK7 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
netherton syndrome
  • n syndrome
atopic dermatitis
  • eczema
occupational dermatitis
  • occupational allergic contact dermatitis
esophagus squamous cell carcinoma
  • esophageal squamous cell carcinoma
myopathy, myofibrillar, 3
  • myofibrillar myopathy 3
- 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 23 67
  2. Kallikrein expression and cathelicidin processing are independently controlled in keratinocytes by calcium, vitamin D(3), and retinoic acid. (PMID: 20090765) Morizane S. … Gallo R.L. (J. Invest. Dermatol. 2010) 3 23
  3. Dichotomous effect of ultraviolet B on the expression of corneodesmosomal enzymes in human epidermal keratinocytes. (PMID: 19118981) Nin M. … Kishimoto S. (J. Dermatol. Sci. 2009) 3 23
  4. Clinical significance of kallikrein-related peptidase 7 (KLK7) in colorectal cancer. (PMID: 19350120) Talieri M. … Scorilas A. (Thromb. Haemost. 2009) 3 23
  5. Tissue-specific promoter utilisation of the kallikrein-related peptidase genes, KLK5 and KLK7, and cellular localisation of the encoded proteins suggest roles in exocrine pancreatic function. (PMID: 18163887) Dong Y. … Clements J.A. (Biol. Chem. 2008) 3 23

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