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PI3 peptidase inhibitor 3 [ Homo sapiens (human) ]

Gene ID: 5266, updated on 28-Jun-2020

Summary

Official Symbol
PI3provided by HGNC
Official Full Name
peptidase inhibitor 3provided by HGNC
Primary source
HGNC:HGNC:8947
See related
Ensembl:ENSG00000124102 MIM:182257
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ESI; WAP3; SKALP; WFDC14; cementoin
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]
Expression
Biased expression in esophagus (RPKM 578.7), colon (RPKM 50.5) and 1 other tissue See more
Orthologs

Genomic context

See PI3 in Genome Data Viewer
Location:
20q13.12
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45174902..45176544)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43803540..43805185)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene WAP four-disulfide core domain 12 Neighboring gene uncharacterized LOC101929863 Neighboring gene long intergenic non-protein coding RNA 2597 Neighboring gene semenogelin 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of peptidase inhibitor 3, skin-derived (PI3) in peptide-treated PBMCs PubMed
retropepsin gag-pol Elafin has anti-HIV-1 activity, while its precursor Trappin-2 has significant anti-PR activity PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13613

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of epidermis IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
antibacterial humoral response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antimicrobial humoral response TAS
Traceable Author Statement
more info
 
copulation IEA
Inferred from Electronic Annotation
more info
 
cornification TAS
Traceable Author Statement
more info
 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
cornified envelope TAS
Traceable Author Statement
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
elafin
Names
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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002638.4NP_002629.1  elafin preproprotein

    See identical proteins and their annotated locations for NP_002629.1

    Status: REVIEWED

    Source sequence(s)
    AA583773, AL049767, BC010952
    Consensus CDS
    CCDS13344.1
    UniProtKB/Swiss-Prot
    P19957
    Related
    ENSP00000243924.3, ENST00000243924.4
    Conserved Domains (2) summary
    smart00217
    Location:72117
    WAP; Four-disulfide core domains
    pfam10511
    Location:3147
    Cementoin; Trappin protein transglutaminase binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    45174902..45176544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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