PI3

Gene Information
 
Gene Symbol
PI3
 
Aliases
ESI, SKALP, WAP3, WFDC14, cementoin
 
Entrez Gene ID
 
Gene Name
Peptidase inhibitor 3, skin-derived
 
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. 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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0010951 Biological process Negative regulation of endopeptidase activity TAS 2394696
GO:0005578 Cellular component Proteinaceous extracellular matrix TAS 8476637
GO:0004866 Molecular function Endopeptidase inhibitor activity TAS 2394696
Protein Information
 
Protein Name
Elafin
 
Function
Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00095 WAP WAP-type (Whey Acidic Protein) 'four-disulfide core'
PF10511 Cementoin Trappin protein transglutaminase binding domain
 
OMIM
 
Interactions
STRING MINT I2D
ENSP00000243924 P19957

Associated Diseases

Diseases References
Acute respiratory distress 19251943, 19197381, 10414400
Cancer (carcinoma) 7780965, 11926597
Hyperandrogenism 14512432
Insulin resistance 14688155
Polycystic ovary syndrome (PCOS) 10923281, 17603492, 10207720, 9222646, 15855352, 17235527, 15331560, 15657373, 18812636, 22314079, 23685425, 22621829, 20504873, 21270326, 19240152, 17445806, 24040456, 22564702, 22575725, 23748472, 21853931, 22527903, 21827375, 20840271, 20130411, 20045799, 19549442, 18680073, 17141766, 16785159, 16600233, 16316841, 15853827, 15472214, 14671186, 12615821, 11836319, 19681917, 15717879, 15660727, 17420421, 7652727, 15208835, 16980199, 16334591, 18974244, 14764276, 17023708, 15159251, 9590566, 20001427, 19114407, 14976002, 9861517, 8462390, 1736105, 18309108, 17954428, 16506274, 14968294, 12627878, 18779682, 16581078, 9240771, 19138313, 16259222, 12957327, 16054467, 9100707, 17368007, 1457758, 7981184, 10707556, 9270410, 8856394, 12150695, 12692007, 19015938, 18775353, 18640389, 17873318, 17320517, 17183416, 17218834, 15998260, 15579783, 16820727, 16392771, 16319655, 14647894, 14553866, 11997182, 14739074, 12647277, 12408408, 12365467, 10821297, 10440591, 10374288, 8299479, 19149565, 7828781, 2065046, 19572942, 19421860, 19564534, 18927552, 18296327, 17826042, 17760500, 17259501, 16522281, 15075712, 12877091, 12702035, 12675638, 8949974, 19731182, 19164269, 17952838, 16839860, 15590982, 14626524, 12610050, 12540621, 12148078, 10024191, 8964200, 7782801, 20513276, 19369429, 19214921, 18772854, 16697386, 17181562, 15258201, 15047659, 8736268, 19218574, 17083810, 12042261
   
References
 
Primary:

Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene Met326Ile polymorphism in women with polycystic ovary syndrome.

Kim Jin Ju, Choi Young Min, Hong Min A, Hwang Seung Sik, Yoon Sang Ho, Chae Soo Jin, Jee Byung Chul, Ku Seung Yup, Kim Jung Gu, Moon Shin Yong
Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Republic of Korea.
Hum Reprod. 2009 May;24(5):1184-90. Epub 2009 Feb 13.
 
Supporting Literature:
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. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26373822
GLUT4 translocation is not impaired after acute exercise in skeletal muscle of women with obesity and polycystic ovary syndrome. 
Clinical study 
23388061, PMC3724505
Insulin and insulin-like growth factor signaling increases proliferation and hyperplasia of the ovarian surface epithelium and decreases follicular integrity through upregulation of the PI3-kinase pathway. 
In vitro 
19169352, PMC2625432
Effect of testosterone on insulin stimulated IRS1 Ser phosphorylation in primary rat myotubes--a potential model for PCOS-related insulin resistance. 
Effect of treatment 
18683055, PMC2653599
Nonhuman primates as models for human adrenal androgen production: function and dysfunction. 
Animal study 
18421022
Peripubertal hyperinsulinemia upregulates phosphatidylinositol 3-kinase/akt pathway in rat ovaries. 
Animal study 

 

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