Human Gene KLK7 (ENST00000391807.5) from GENCODE V44
  Description: Homo sapiens kallikrein related peptidase 7 (KLK7), transcript variant 2, mRNA. (from RefSeq NM_139277)
RefSeq Summary (NM_139277): 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].
Gencode Transcript: ENST00000391807.5
Gencode Gene: ENSG00000169035.12
Transcript (Including UTRs)
   Position: hg38 chr19:50,976,488-50,983,815 Size: 7,328 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr19:50,977,536-50,982,399 Size: 4,864 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:50,976,488-50,983,815)mRNA (may differ from genome)Protein (253 aa)
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-  Comments and Description Text from UniProtKB
  ID: KLK7_HUMAN
DESCRIPTION: RecName: Full=Kallikrein-7; Short=hK7; EC=3.4.21.117; AltName: Full=Serine protease 6; AltName: Full=Stratum corneum chymotryptic enzyme; Short=hSCCE; Flags: Precursor;
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. SCCE cleaves 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.
CATALYTIC ACTIVITY: Cleavage of proteins with aromatic side chains in the P1 position.
ENZYME REGULATION: Inhibited by Zn2+ and Cu2+ at low micromolar concentrations.
SUBCELLULAR LOCATION: Secreted. Note=In ovarian carcinoma, secreted and also observed at the apical membrane and in cytoplasm at the invasive front.
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).
INDUCTION: By estrogens and glucocorticoids in a breast carcinoma cell line.
SIMILARITY: Belongs to the peptidase S1 family. Kallikrein subfamily.
SIMILARITY: Contains 1 peptidase S1 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KLK7
Diseases sorted by gene-association score: netherton syndrome (24), atopic dermatitis (15), occupational dermatitis (9), esophagus squamous cell carcinoma (7), dermatitis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 106.58 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 291.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.80102-0.380 Picture PostScript Text
3' UTR -266.801048-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00089 - Trypsin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QXG - X-ray MuPIT 2QXH - X-ray MuPIT 2QXI - X-ray MuPIT 2QXJ - X-ray MuPIT 3BSQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P49862
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0002803 positive regulation of antibacterial peptide production
GO:0006508 proteolysis
GO:0008544 epidermis development
GO:0022617 extracellular matrix disassembly

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0097209 epidermal lamellar body


-  Descriptions from all associated GenBank mRNAs
  KX519464 - Homo sapiens kallikrein-7 isoform 4 (KLK7) mRNA, complete cds, alternatively spliced.
KX519465 - Homo sapiens kallikrein-7 isoform 5 (KLK7) mRNA, complete cds, alternatively spliced.
JD448714 - Sequence 429738 from Patent EP1572962.
JD106839 - Sequence 87863 from Patent EP1572962.
JD505267 - Sequence 486291 from Patent EP1572962.
JD183310 - Sequence 164334 from Patent EP1572962.
AF411214 - Homo sapiens kallikrein 7 long variant protein mRNA, complete cds, alternatively spliced.
JD264542 - Sequence 245566 from Patent EP1572962.
JD057301 - Sequence 38325 from Patent EP1572962.
JD435146 - Sequence 416170 from Patent EP1572962.
JD374453 - Sequence 355477 from Patent EP1572962.
JD411308 - Sequence 392332 from Patent EP1572962.
JD069848 - Sequence 50872 from Patent EP1572962.
JD069847 - Sequence 50871 from Patent EP1572962.
JD255981 - Sequence 237005 from Patent EP1572962.
JD489225 - Sequence 470249 from Patent EP1572962.
JD528189 - Sequence 509213 from Patent EP1572962.
JD234452 - Sequence 215476 from Patent EP1572962.
JD550471 - Sequence 531495 from Patent EP1572962.
JD428484 - Sequence 409508 from Patent EP1572962.
AK295313 - Homo sapiens cDNA FLJ50769 complete cds, highly similar to Kallikrein-7 precursor (EC 3.4.21.-).
JD036774 - Sequence 17798 from Patent EP1572962.
JD329451 - Sequence 310475 from Patent EP1572962.
JD266046 - Sequence 247070 from Patent EP1572962.
BC032005 - Homo sapiens kallikrein-related peptidase 7, mRNA (cDNA clone MGC:21183 IMAGE:4750452), complete cds.
JD062311 - Sequence 43335 from Patent EP1572962.
JD096704 - Sequence 77728 from Patent EP1572962.
L33404 - Human stratum corneum chymotryptic enzyme mRNA, complete cds.
AF411215 - Homo sapiens kallikrein 7 short variant protein mRNA, complete cds, alternatively spliced.
AK289660 - Homo sapiens cDNA FLJ75390 complete cds, highly similar to Homo sapiens kallikrein 7 (chymotryptic, stratum corneum), mRNA.
AY601109 - Homo sapiens KLK7 mRNA, complete cds.
DQ018784 - Homo sapiens signal protein mRNA, complete cds.
AY646152 - Homo sapiens kallikrein 7 splice variant 3 precursor, mRNA, complete cds, alternatively spliced.
KJ897393 - Synthetic construct Homo sapiens clone ccsbBroadEn_06787 KLK7 gene, encodes complete protein.
DQ890746 - Synthetic construct clone IMAGE:100003376; FLH165638.01X; RZPDo839E10160D kallikrein 7 (chymotryptic, stratum corneum) (KLK7) gene, encodes complete protein.
DQ893916 - Synthetic construct Homo sapiens clone IMAGE:100008376; FLH165634.01L; RZPDo839E10159D kallikrein 7 (chymotryptic, stratum corneum) (KLK7) gene, encodes complete protein.
KF963189 - Homo sapiens isolate SER1 kallikrein 7 (KLK7) mRNA, partial cds.
KF963190 - Homo sapiens isolate SER2 kallikrein 7-like (KLK7) mRNA, partial sequence.
KF963191 - Homo sapiens isolate SER3 kallikrein 7-like (KLK7) mRNA, partial sequence.
KF963192 - Homo sapiens isolate SER4 kallikrein 7 (KLK7) mRNA, partial cds, alternatively spliced.
KF963193 - Homo sapiens isolate SER5 kallikrein 7-like (KLK7) mRNA, partial sequence.
JD465262 - Sequence 446286 from Patent EP1572962.
JD271903 - Sequence 252927 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P49862 (Reactome details) participates in the following event(s):

R-HSA-3827958 E-cadherin degradation by MMP9, KLK7
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000391807.1, ENST00000391807.2, ENST00000391807.3, ENST00000391807.4, KLK7_HUMAN, NM_139277, P49862, PRSS6, Q8N5N9, Q8NFV7, SCCE, uc002puo.1, uc002puo.2, uc002puo.3, uc002puo.4
UCSC ID: ENST00000391807.5
RefSeq Accession: NM_139277
Protein: P49862 (aka KLK7_HUMAN)
CCDS: CCDS12812.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.