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PI3 (peptidase inhibitor 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5266
Gene nameGene Name - the full gene name approved by the HGNC.
Peptidase inhibitor 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PI3
SynonymsGene synonyms aliases
ESI, SKALP, WAP3, WFDC14, cementoin
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
SummarySummary of gene provided in NCBI Entrez 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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IDA 7543090
GO:0001533 Component Cornified envelope TAS
GO:0004866 Function Endopeptidase inhibitor activity TAS 2394696
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA 21873635
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P19957
Protein name Elafin (Elastase-specific inhibitor) (ESI) (Peptidase inhibitor 3) (PI-3) (Protease inhibitor WAP3) (Skin-derived antileukoproteinase) (SKALP) (WAP four-disulfide core domain protein 14)
Protein function Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis. Has been shown to inhibit the alpha-4-beta-2/CHRNA2-CHRNB2 nicotinic acetylcholine receptor and to produce a weak inhibition on K
PDB 1FLE , 2REL , 6ATU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10511 Cementoin
31 47
Trappin protein transglutaminase binding domain
Family
PF10511 Cementoin
55 71
Trappin protein transglutaminase binding domain
Family
PF00095 WAP
72 116
Domain
Sequence
Sequence length 117
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Antimicrobial peptides
Formation of the cornified envelope
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 25724174

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