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Aliases for PI3 Gene

Aliases for PI3 Gene

  • Peptidase Inhibitor 3 2 3 4 5
  • Skin-Derived Antileukoproteinase 2 3 4
  • Protease Inhibitor 3, Skin-Derived (SKALP) 2 3
  • WAP Four-Disulfide Core Domain Protein 14 3 4
  • Peptidase Inhibitor 3, Skin-Derived 2 3
  • Elastase-Specific Inhibitor 3 4
  • Protease Inhibitor WAP3 3 4
  • Trappin-2 2 3
  • WFDC14 3 4
  • SKALP 3 4
  • PI-3 3 4
  • WAP3 3 4
  • ESI 3 4
  • WAP Four-Disulfide Core Domain 14 3
  • Pre-Elafin 3
  • Cementoin 3

External Ids for PI3 Gene

Previous GeneCards Identifiers for PI3 Gene

  • GC20P043531
  • GC20P044441
  • GC20P044489
  • GC20P044490
  • GC20P043236
  • GC20P043803
  • GC20P040545

Summaries for PI3 Gene

Entrez Gene Summary for PI3 Gene

  • 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]

GeneCards Summary for PI3 Gene

PI3 (Peptidase Inhibitor 3) is a Protein Coding gene. Diseases associated with PI3 include impetigo herpetiformis and farmer's lung. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity.

UniProtKB/Swiss-Prot for PI3 Gene

  • Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.

Gene Wiki entry for PI3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PI3 Gene

Genomics for PI3 Gene

Regulatory Elements for PI3 Gene

Genomic Location for PI3 Gene

Chromosome:
20
Start:
45,174,876 bp from pter
End:
45,176,544 bp from pter
Size:
1,669 bases
Orientation:
Plus strand

Genomic View for PI3 Gene

Genes around PI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PI3 Gene

Proteins for PI3 Gene

  • Protein details for PI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19957-ELAF_HUMAN
    Recommended name:
    Elafin
    Protein Accession:
    P19957
    Secondary Accessions:
    • E1P618
    • Q6FG74

    Protein attributes for PI3 Gene

    Size:
    117 amino acids
    Molecular mass:
    12270 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PI3 Gene

neXtProt entry for PI3 Gene

Proteomics data for PI3 Gene at MOPED

Post-translational modifications for PI3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PI3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PI3 (Trappin-2/Elafin)

Protein Products

No data available for DME Specific Peptides for PI3 Gene

Domains & Families for PI3 Gene

Gene Families for PI3 Gene

Protein Domains for PI3 Gene

Suggested Antigen Peptide Sequences for PI3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19957

UniProtKB/Swiss-Prot:

ELAF_HUMAN :
  • Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins.
Domain:
  • Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins.
  • Contains 1 WAP domain.
genes like me logo Genes that share domains with PI3: view

Function for PI3 Gene

Molecular function for PI3 Gene

GENATLAS Biochemistry:
elafin,serine proteinase inhibitor,epidermal,member of the troppin family,induced in epidermis by cellular stress,involved in the regulation of inflammation and in protection against tissue damage,regulated by neutrophil elastase in type II alveolar epithelial cells
UniProtKB/Swiss-Prot Function:
Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.

Gene Ontology (GO) - Molecular Function for PI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with PI3: view
genes like me logo Genes that share phenotypes with PI3: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PI3 Gene

Localization for PI3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PI3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PI3 Gene COMPARTMENTS Subcellular localization image for PI3 gene
Compartment Confidence
extracellular 5
nucleus 3
cytoskeleton 2
cytosol 2
endosome 2
lysosome 2
plasma membrane 2
vacuole 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for PI3 Gene

Pathways & Interactions for PI3 Gene

SuperPathways for PI3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007620 copulation IEA --
genes like me logo Genes that share ontologies with PI3: view

No data available for Pathways by source and SIGNOR curated interactions for PI3 Gene

Drugs & Compounds for PI3 Gene

(14) Drugs for PI3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(12) Additional Compounds for PI3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PI3: view

Transcripts for PI3 Gene

mRNA/cDNA for PI3 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(132) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PI3 Gene

Peptidase inhibitor 3, skin-derived:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PI3 Gene

No ASD Table

Relevant External Links for PI3 Gene

GeneLoc Exon Structure for
PI3
ECgene alternative splicing isoforms for
PI3

Expression for PI3 Gene

mRNA expression in normal human tissues for PI3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PI3 Gene

This gene is overexpressed in Esophagus - Mucosa (x22.7), Vagina (x12.3), and Whole Blood (x7.6).

Protein differential expression in normal tissues from HIPED for PI3 Gene

This gene is overexpressed in Cervix (33.8) and Oral epithelium (20.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PI3 Gene



SOURCE GeneReport for Unigene cluster for PI3 Gene Hs.112341

genes like me logo Genes that share expression patterns with PI3: view

Protein tissue co-expression partners for PI3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PI3 Gene

Orthologs for PI3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PI3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PI3 35
  • 100 (n)
  • 100 (a)
PI3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 48 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
PI3 36
  • 43 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PI3 36
  • 71 (a)
OneToOne
PI3 35
  • 76.95 (n)
  • 71.96 (a)
Species with no ortholog for PI3:
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 PI3 Gene

ENSEMBL:
Gene Tree for PI3 (if available)
TreeFam:
Gene Tree for PI3 (if available)

Paralogs for PI3 Gene

No data available for Paralogs for PI3 Gene

Variants for PI3 Gene

Sequence variations from dbSNP and Humsavar for PI3 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs2664581 - 45,175,881(+) AAGAC(A/C)CTGTC reference, missense
rs17333103 - 45,174,972(+) TGGGA(C/T)GCTGG reference, missense
rs2664533 -- 45,176,508(+) CCTCT(C/T)TCATC utr-variant-3-prime
rs17333180 -- 45,175,067(+) CTGGG(A/C)CAGGA intron-variant
rs17424356 -- 45,175,549(+) AATGC(A/G)CTTCC intron-variant

Variation tolerance for PI3 Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.03; 60.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PI3 Gene

HapMap Linkage Disequilibrium report
PI3
Human Gene Mutation Database (HGMD)
PI3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PI3 Gene

Disorders for PI3 Gene

MalaCards: The human disease database

(15) MalaCards diseases for PI3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
impetigo herpetiformis
farmer's lung
  • farmer lung
ascariasis
  • ascariasis - roundworm
acute respiratory distress syndrome
  • acute lung injury
engraftment syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PI3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PI3

Genetic Association Database (GAD)
PI3
Human Genome Epidemiology (HuGE) Navigator
PI3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PI3
genes like me logo Genes that share disorders with PI3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PI3 Gene

Publications for PI3 Gene

  1. Genetic polymorphisms of peptidase inhibitor 3 (elafin) are associated with acute respiratory distress syndrome. (PMID: 19251943) Tejera P. … Christiani D.C. (Am. J. Respir. Cell Mol. Biol. 2009) 3 23 48 67
  2. Assignment of the human gene encoding the epidermal serine proteinase inhibitor SKALP (PI3) to chromosome region 20q12-->q13. (PMID: 8287685) Molhuizen H.O. … Schalkwijk J. (Cytogenet. Cell Genet. 1994) 2 3 23
  3. Overexpression of elafin in ovarian carcinoma is driven by genomic gains and activation of the nuclear factor kappaB pathway and is associated with poor overall survival. (PMID: 20126474) Clauss A. … Drapkin R. (Neoplasia 2010) 3 23
  4. The role of recombinant human elafin in the resistance of A549 cells against Pseudomonas aeruginosa biofilm. (PMID: 19420899) Li Q. … Yang J. (Respiration 2010) 3 23
  5. Elafin is a biomarker of graft-versus-host disease of the skin. (PMID: 20371463) Paczesny S. … Ferrara J.L. (Sci Transl Med 2010) 3 23

Products for PI3 Gene

Sources for PI3 Gene

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