PI3 peptidase inhibitor 3 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:8947
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: all
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Genomic context

Location:: 20q13.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45174902..45176544)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (46910802..46912444)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (43803543..43805185)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Severe Pulmonary Arterial Hypertension Is Characterized by Increased Neutrophil Elastase and Relative Elafin Deficiency.
Title: Severe Pulmonary Arterial Hypertension Is Characterized by Increased Neutrophil Elastase and Relative Elafin Deficiency.
Upregulation of elafin expression in the fallopian tube of ectopic tubal pregnancies compared to the normal tubes.
Title: Upregulation of elafin expression in the fallopian tube of ectopic tubal pregnancies compared to the normal tubes.
Recombinant Human Elafin Ameliorates Chronic Hyperoxia-Induced Lung Injury by Inhibiting Nuclear Factor-Kappa B Signaling in Neonatal Mice.
Title: Recombinant Human Elafin Ameliorates Chronic Hyperoxia-Induced Lung Injury by Inhibiting Nuclear Factor-Kappa B Signaling in Neonatal Mice.
Elafin as a Predictive Biomarker of Acute Skin Graft-Versus-Host Disease After Haploidentical Stem Cell Transplantation Using Post-Transplant High-Dose Cyclophosphamide.
Title: Elafin as a Predictive Biomarker of Acute Skin Graft-Versus-Host Disease After Haploidentical Stem Cell Transplantation Using Post-Transplant High-Dose Cyclophosphamide.
Evaluation of Elafin Immunohistochemical Expression as Marker of Cervical Cancer Severity.
Title: Evaluation of Elafin Immunohistochemical Expression as Marker of Cervical Cancer Severity.
Metabolic Syndrome, Clusterin and Elafin in Patients with Psoriasis Vulgaris.
Title: Metabolic Syndrome, Clusterin and Elafin in Patients with Psoriasis Vulgaris.
High circulating elafin levels are associated with the presence of stricture in Crohn's disease (CD) patients. Serum elafin levels may help identify intestinal strictures in CD patients.
Title: High circulating elafin levels are associated with Crohn's disease-associated intestinal strictures.
A positive association between the psoriasis area and severity index score with three serum proteins (PI3, CCL22, IL-12B) has been found.
Title: In-depth serum proteomics reveals biomarkers of psoriasis severity and response to traditional Chinese medicine.
Endothelial trappin-2 up-regulation partially due to Fli1 deficiency can be associated with the development of SSc vasculopathy.
Title: A potential contribution of trappin-2 to the development of vasculopathy in systemic sclerosis.
Elafin decreased in active patients with inflammatory bowel disease and was negatively correlated with disease activity, suggesting that elafin may play a protective role
Title: Expression and Clinical Significance of Elafin in Inflammatory Bowel Disease.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of skin epidermis	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in copulation	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

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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.