PI3 (peptidase inhibitor 3)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5266
Gene name Gene Name - the full gene name approved by the HGNC.
Peptidase inhibitor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PI3
Synonyms (NCBI Gene) Gene synonyms aliases
ESI, SKALP, WAP3, WFDC14, cementoin
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
Summary Summary 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.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
182257 8947 ENSG00000124102
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Antimicrobial peptides
Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 25724174
Show/Hide Text Mining Associations (79)
Associations from Text Mining
Disease Name Relationship Type References
Acquired ichthyosis Associate 7561159
Acute Lung Injury Associate 37700323
Adenoma Associate 27079615
Arthritis Psoriatic Associate 15304086
Asthma Associate 38128411
Atherosclerosis Associate 28821884
Breast Neoplasms Inhibit 20823156, 25551582
Breast Neoplasms Stimulate 24469047
Carcinogenesis Associate 15743786
Carcinoma Hepatocellular Associate 33771199