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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]
KLK7 (Kallikrein Related Peptidase 7) is a Protein Coding gene. Diseases associated with KLK7 include Netherton Syndrome and Dermatitis. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. 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 KLK5.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH19J050999 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 250.4 | -17.4 | -17372 | 3.5 | TBP MNT IKZF1 NBN TRIM25 ZNF341 ZBTB5 SKIL NKRF PRDM10 | KLK8 HSALNG0127160 HSALNG0127161 lnc-KLK9-1 KLK7 KLK10 ENSG00000269741 KLK9 ENSG00000267879 | |
GH19J050983 | Promoter | 0.8 | EPDnew Ensembl | 258.8 | 0.0 | -1 | 0.6 | EGR1 EGR2 | KLK7 lnc-KLK8-1 ENSG00000267879 lnc-KLK9-1 KLK8 | |
GH19J050982 | Promoter | 0.3 | Ensembl | 260 | +1.2 | 1198 | 1.4 | KLK7 lnc-KLK8-1 ZNF473 HSALNG0127156 KLK6 ENSG00000267879 | ||
GH19J050968 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE CraniofacialAtlas | 11.3 | +15.0 | 15003 | 2 | ZNF217 MBD2 GABPB1 CTBP1 SIN3A JUND SMARCE1 MAZ EGR1 DPF2 | KLK6 ENSG00000267879 KLK7 KLK5 ENSG00000269495 ZNF473 LOC105372442 | |
GH19J050991 | Enhancer | 0.6 | Ensembl ENCODE | 8.2 | -8.5 | -8493 | 2.1 | JUND DPF2 FOSL2 RFX1 FOS | KLK7 KLK8 lnc-KLK9-1 ENSG00000267879 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IMP | 17012259 |
GO:0030141 | secretory granule | IBA | 21873635 |
GO:0097209 | epidermal lamellar body | IDA | 15675955 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
|
Blood Coagulation Cascade
.46
|
2 | Degradation of the extracellular matrix | ||
3 | MSP-RON Signaling |
MSP-RON Signaling
-
|
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 | 8034709 |
GO:0022617 | extracellular matrix disassembly | TAS | -- |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||
SP3: | - | - | |||||||||||||||||||
SP4: |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KLK7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KLK7 30 |
|
||
Cow (Bos Taurus) |
Mammalia | KLK7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Klk7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Klk7 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KLK7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KLK7 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112736390 | Benign: not provided | 50,977,573(-) |
G/A NM_005046.4(KLK7):c.725C>T (p.Thr242Ile) |
MISSENSE | |
rs147827338 | Benign: not provided | 50,980,268(-) |
G/A NM_005046.4(KLK7):c.441C>T (p.Ser147=) |
SYNONYMOUS | |
rs17855561 | Benign: not provided | 50,977,620(-) |
G/A NM_005046.4(KLK7):c.678C>T (p.Cys226=) |
SYNONYMOUS | |
rs73932697 | Benign: not provided | 50,977,674(-) |
C/A NM_005046.4(KLK7):c.624G>T (p.Pro208=) |
SYNONYMOUS |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
netherton syndrome |
|
|
dermatitis |
|
|
dermatitis, atopic |
|
|
high-grade astrocytoma |
|
|
occupational dermatitis |
|
|