| |
| |
Gene Symbol |
PI3 |
| |
Aliases |
ESI, SKALP, WAP3, WFDC14, cementoin |
| |
Entrez Gene ID |
|
| |
Gene Name |
Peptidase inhibitor 3 |
| |
Chromosomal Location |
20q13.12 |
| |
HGNC ID |
|
| |
Summary |
This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014]
|
| |
e!Ensembl
|
| Protein Information |
| |
Protein Name |
Elafin, PI-3, WAP four-disulfide core domain 14, WAP four-disulfide core domain protein 14, elastase-specific inhibitor, peptidase inhibitor 3, skin-derived, pre-elafin, protease inhibitor 3, skin-derived (SKALP), protease inhibitor WAP3, skin-derived antileukoproteinase, trappin-2 |
| |
Function |
|
Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis. Has been shown to inhibit the alpha-4-beta-2/CHRNA2-CHRNB2 nicotinic acetylcholine receptor and to produce a weak inhibition on Kv11.1/KCNH2/ERG1 and on the transient receptor potential cation channel subfamily V member 1 (TRPV1) (PubMed:29483648). |
|
| |
UniProt |
|
| |
PDB |
|
|
|
|
|
|
Interactions |
| | |
| STRING |
MINT |
IntAct |
| ENSP00000360522 |
P02753 |
P02753 |
|
| | |
View interactions
|
| |
| |
Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
|
| Skin and Connective Tissue Diseases |
| Dermatitis |
|
|
|
References |
| |
|
| |
| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
|
Resistin |
Insulin resistance |
|
PCOS was defined by clinical, laboratory and ultrasound criteria. |
Related
|
17 PCOS women and 10 lean, healthy, age-matched non-PCOS women |
These results suggest that overexpression of the resistin gene in adipocytes may be a local determinant factor in the pathogenesis of PCOS. |
|
|
|
|
Rotterdam criteria |
Related
|
256 PCOS patients and 283 controls |
PI3-kinase gene Met326Ile polymorphism may not be a major determinant for the development of PCOS |
|
17alpha-hydroxylase |
Hyperandrogenism |
|
|
Related
|
Theca interna tissue was obtained from the follicles of regularly cycling premenopausal women |
PI3-kinase mediates the insulin augmentation of forskolin-stimulated 17alpha-hydroxylase activity. |
|
|
|
|
|
Related
|
Patients with PCOS with IR (n = 19), PCOS without IR (n = 10) and controls (n = 15) |
No significant difference in the protein of PI-3K p85 subunit in PCOS with IR is found. The decreased PI-3K activity may lead to IR of PCOS. |
|
|
|
|
