Human Gene PI3 (uc002xng.3)
  Description: Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.
RefSeq Summary (NM_002638): 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].
Transcript (Including UTRs)
   Position: hg19 chr20:43,803,540-43,805,185 Size: 1,646 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr20:43,803,564-43,804,776 Size: 1,213 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:43,803,540-43,805,185)mRNA (may differ from genome)Protein (117 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ELAF_HUMAN
DESCRIPTION: RecName: Full=Elafin; AltName: Full=Elastase-specific inhibitor; Short=ESI; AltName: Full=Peptidase inhibitor 3; Short=PI-3; AltName: Full=Protease inhibitor WAP3; AltName: Full=Skin-derived antileukoproteinase; Short=SKALP; AltName: Full=WAP four-disulfide core domain protein 14; Flags: Precursor;
FUNCTION: Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.
SUBCELLULAR LOCATION: Secreted.
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.
SIMILARITY: Contains 1 WAP domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PI3
CDC HuGE Published Literature: PI3

-  MalaCards Disease Associations
  MalaCards Gene Search: PI3
Diseases sorted by gene-association score: erysipelas (21), pustular psoriasis (19), impetigo herpetiformis (16), farmer's lung (16), ascariasis (15), impetigo (12), extrinsic allergic alveolitis (9), balanoposthitis (9), netherton syndrome (8), engraftment syndrome (7), basosquamous carcinoma (7), acute respiratory distress syndrome (7), cellular congenital mesoblastic nephroma (7), pasteurellosis (6), irritant dermatitis (5), bronchopneumonia (5), lung disease (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 633.41 RPKM in Esophagus - Mucosa
Total median expression: 962.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00240.000 Picture PostScript Text
3' UTR -40.19176-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015874 - 4-disulphide_core
IPR002098 - SVP_I
IPR019541 - Trappin_transglut-bd_rpt
IPR008197 - Whey_acidic_protein_4-diS_core

Pfam Domains:
PF00095 - WAP-type (Whey Acidic Protein) 'four-disulfide core'
PF10511 - Trappin protein transglutaminase binding domain

SCOP Domains:
57256 - Elafin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FLE - X-ray MuPIT 2REL - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P19957
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004866 endopeptidase inhibitor activity
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0030280 structural constituent of epidermis
GO:0030414 peptidase inhibitor activity

Biological Process:
GO:0007620 copulation
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity
GO:0018149 peptide cross-linking
GO:0019730 antimicrobial humoral response
GO:0070268 cornification

Cellular Component:
GO:0001533 cornified envelope
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  LP896222 - Sequence 1086 from Patent EP3253886.
BC010952 - Homo sapiens peptidase inhibitor 3, skin-derived, mRNA (cDNA clone MGC:13613 IMAGE:4083155), complete cds.
DQ892710 - Synthetic construct clone IMAGE:100005340; FLH189009.01X; RZPDo839A0874D peptidase inhibitor 3, skin-derived (SKALP) (PI3) gene, encodes complete protein.
DQ895962 - Synthetic construct Homo sapiens clone IMAGE:100010422; FLH189005.01L; RZPDo839A0864D peptidase inhibitor 3, skin-derived (SKALP) (PI3) gene, encodes complete protein.
AB590207 - Synthetic construct DNA, clone: pFN21AE1538, Homo sapiens PI3 gene for peptidase inhibitor 3, skin-derived, without stop codon, in Flexi system.
Z18538 - H.sapiens encoding skin-derived antileukoproteinase.
KJ891797 - Synthetic construct Homo sapiens clone ccsbBroadEn_01191 PI3 gene, encodes complete protein.
CR542234 - Homo sapiens full open reading frame cDNA clone RZPDo834F0625D for gene PI3, protease inhibitor 3, skin-derived (SKALP); complete cds, without stopcodon.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P19957 (Reactome details) participates in the following event(s):

R-HSA-6810724 PI3 binds the bacterial surface
R-HSA-6810937 Lamellar bodies bind the early cornified envelope
R-HSA-6814734 CDSN binds the cornified envelope
R-HSA-6814298 Late envelope proteins bind cornified envelope:CDSN
R-HSA-6814387 CASP14 cleaves filaggrin
R-HSA-6803157 Antimicrobial peptides
R-HSA-6809371 Formation of the cornified envelope
R-HSA-168249 Innate Immune System
R-HSA-6805567 Keratinization
R-HSA-168256 Immune System
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: E1P618, ELAF_HUMAN, NM_002638, NP_002629, P19957, Q6FG74, WAP3, WFDC14
UCSC ID: uc002xng.3
RefSeq Accession: NM_002638
Protein: P19957 (aka ELAF_HUMAN)
CCDS: CCDS13344.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002638.3
exon count: 3CDS single in 3' UTR: no RNA size: 579
ORF size: 354CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 908.00frame shift in genome: no % Coverage: 95.68
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.