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Aliases for PI3 Gene

Aliases for PI3 Gene

  • Peptidase Inhibitor 3, Skin-Derived 2 3
  • Skin-Derived Antileukoproteinase 2 3 4
  • Protease Inhibitor 3, Skin-Derived (SKALP) 2 3
  • WAP Four-Disulfide Core Domain Protein 14 3 4
  • 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
  • Peptidase Inhibitor 3 4
  • Pre-Elafin 3
  • Cementoin 3
  • Elafin 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, Skin-Derived) is a Protein Coding gene. Diseases associated with PI3 include impetigo herpetiformis and erysipelas. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for PI3 Gene

Gene Families for PI3 Gene

HGNC:
  • WFDC :WAP four-disulfide core domain containing

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 :
  • P19957
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:0004866 endopeptidase inhibitor activity TAS 2394696
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity --
genes like me logo Genes that share ontologies with PI3: view

Phenotypes for PI3 Gene

GenomeRNAi human phenotypes for PI3:
genes like me logo Genes that share phenotypes with PI3: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PI3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
plasma membrane 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
endosome 2
mitochondrion 2
nucleus 2
vacuole 2
lysosome 1

Gene Ontology (GO) - Cellular Components for PI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005578 proteinaceous extracellular matrix TAS 8476637
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PI3: view

Pathways 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 --
GO:0010951 negative regulation of endopeptidase activity TAS 2394696
genes like me logo Genes that share ontologies with PI3: view

No data available for Pathways by source for PI3 Gene

Compounds for PI3 Gene

(26) Novoseek inferred chemical compound relationships for PI3 Gene

Compound -log(P) Hits PubMed IDs
hbd2 76.3 3
serine 61.3 33
whey 59 7
ly294002 52.9 5
dithranol 51.3 2
genes like me logo Genes that share compounds with PI3: view

Transcripts for PI3 Gene

mRNA/cDNA for PI3 Gene

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

Unigene Clusters for PI3 Gene

Peptidase inhibitor 3, skin-derived:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PI3

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 (22.7), Vagina (12.3), and Whole Blood (7.6).

Integrated Proteomics: protein expression 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 expressions with PI3: view

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 35
  • 76.95 (n)
  • 71.96 (a)
PI3 36
  • 71 (a)
OneToOne
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 MAF
rs1053826 -- 45,176,468(+) CCATT(C/T)TTCCT utr-variant-3-prime
rs1053831 -- 45,176,515(+) CATCC(A/C)CTTTC utr-variant-3-prime
rs1983649 -- 45,175,084(+) GCACT(A/T)CTGAA intron-variant
rs2267863 -- 45,174,055(+) ACACA(C/G)ACACA upstream-variant-2KB
rs2267864 -- 45,176,638(+) GGAAA(C/G)GGTCC downstream-variant-500B

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

MalaCards: The human disease database. (15) Diseases for PI3 Gene including...

Search for PI3 Gene in MalaCards »

(2) University of Copenhagen DISEASES for PI3 Gene

(30) Novoseek inferred disease relationships for PI3 Gene

Disease -log(P) Hits PubMed IDs
uterine infection 72.4 1
psoriasis 67 23
pustular psoriasis 62.6 10
parainfluenza 57.7 9
skin diseases 51 5

Relevant External Links for PI3

Genetic Association Database (GAD)
PI3
Human Genome Epidemiology (HuGE) Navigator
PI3
genes like me logo Genes that share disorders with PI3: view

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

Publications for PI3 Gene

  1. Isolation of elafin and elastase-specific inhibitor (ESI) from bronchial secretions. Evidence of sequence homology and immunological cross-reactivity. (PMID: 1536690) Sallenave J.-M. … Ryle A.P. (Biol. Chem. Hoppe-Seyler 1992) 3 4 23
  2. SKALP/elafin: an elastase inhibitor from cultured human keratinocytes. Purification, cDNA sequence, and evidence for transglutaminase cross-linking. (PMID: 7685029) Molhuizen H.O.F. … Schalkwijk J. (J. Biol. Chem. 1993) 3 4 23
  3. SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis. (PMID: 9727750) Kuijpers A.L. … Schalkwijk J. (Clin. Genet. 1998) 3 23 48
  4. 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
  5. Characterization and gene sequence of the precursor of elafin, an elastase-specific inhibitor in bronchial secretions. (PMID: 8476637) Sallenave J.-M. … Silva A. (Am. J. Respir. Cell Mol. Biol. 1993) 3 4 23

Products for PI3 Gene

Sources for PI3 Gene

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