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PI3 (peptidase inhibitor 3)

Identity

Alias (NCBI)ESI
SKALP
WAP3
WFDC14
cementoin
HGNC (Hugo) PI3
HGNC Alias symbESI
SKALP
ELAFIN
WAP3
WFDC14
cementoin
HGNC Alias nameskin-derived antileukoproteinase
 trappin-2
HGNC Previous nameprotease inhibitor 3, skin-derived (SKALP)
 peptidase inhibitor 3, skin-derived
LocusID (NCBI) 5266
Atlas_Id 51476
Location 20q13.12  [Link to chromosome band 20q13]
Location_base_pair Starts at 45174902 and ends at 45176544 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CPNE1 (20q11.22) / PI3 (20q13.12)RBM12 (20q11.22) / PI3 (20q13.12)WFDC2 (20q13.12) / PI3 (20q13.12)
WFDC2 20q13.12 / PI3 20q13.12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PI3   8947
Cards
Entrez_Gene (NCBI)PI3    peptidase inhibitor 3
AliasesESI; SKALP; WAP3; WFDC14; 
cementoin
GeneCards (Weizmann)PI3
Ensembl hg19 (Hinxton)ENSG00000124102 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124102 [Gene_View]  ENSG00000124102 [Sequence]  chr20:45174902-45176544 [Contig_View]  PI3 [Vega]
ICGC DataPortalENSG00000124102
TCGA cBioPortalPI3
AceView (NCBI)PI3
Genatlas (Paris)PI3
SOURCE (Princeton)PI3
Genetics Home Reference (NIH)PI3
Genomic and cartography
GoldenPath hg38 (UCSC)PI3  -     chr20:45174902-45176544 +  20q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PI3  -     20q13.12   [Description]    (hg19-Feb_2009)
GoldenPathPI3 - 20q13.12 [CytoView hg19]  PI3 - 20q13.12 [CytoView hg38]
ImmunoBaseENSG00000124102
Genome Data Viewer NCBIPI3 [Mapview hg19]  
OMIM182257   
Gene and transcription
Genbank (Entrez)AA583773 BC010952 CR542234 Z18538
RefSeq transcript (Entrez)NM_002638
Consensus coding sequences : CCDS (NCBI)PI3
Gene ExpressionPI3 [ NCBI-GEO ]   PI3 [ EBI - ARRAY_EXPRESS ]   PI3 [ SEEK ]   PI3 [ MEM ]
Gene Expression Viewer (FireBrowse)PI3 [ Firebrowse - Broad ]
GenevisibleExpression of PI3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5266
GTEX Portal (Tissue expression)PI3
Human Protein AtlasENSG00000124102-PI3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19957   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19957  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19957
PhosPhoSitePlusP19957
Domaine pattern : Prosite (Expaxy)SVP_I (PS00313)    WAP (PS51390)   
Domains : Interpro (EBI)Elafin-like_sf    SVP_I    Trappin_transglut-bd_rpt    WAP_dom   
Domain families : Pfam (Sanger)Cementoin (PF10511)    WAP (PF00095)   
Domain families : Pfam (NCBI)pfam10511    pfam00095   
Domain families : Smart (EMBL)WAP (SM00217)  
Conserved Domain (NCBI)PI3
PDB (RSDB)1FLE    2REL    6ATU   
PDB Europe1FLE    2REL    6ATU   
PDB (PDBSum)1FLE    2REL    6ATU   
PDB (IMB)1FLE    2REL    6ATU   
Structural Biology KnowledgeBase1FLE    2REL    6ATU   
SCOP (Structural Classification of Proteins)1FLE    2REL    6ATU   
CATH (Classification of proteins structures)1FLE    2REL    6ATU   
SuperfamilyP19957
AlphaFold pdb e-kbP19957   
Human Protein Atlas [tissue]ENSG00000124102-PI3 [tissue]
HPRD15947
Protein Interaction databases
DIP (DOE-UCLA)P19957
IntAct (EBI)P19957
BioGRIDPI3
STRING (EMBL)PI3
ZODIACPI3
Ontologies - Pathways
QuickGOP19957
Ontology : AmiGOcornified envelope  cornified envelope  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  extracellular space  cytosol  copulation  negative regulation of endopeptidase activity  peptide cross-linking  antimicrobial humoral response  antibacterial humoral response  structural constituent of skin epidermis  extracellular matrix  innate immune response  cornification  
Ontology : EGO-EBIcornified envelope  cornified envelope  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  extracellular space  cytosol  copulation  negative regulation of endopeptidase activity  peptide cross-linking  antimicrobial humoral response  antibacterial humoral response  structural constituent of skin epidermis  extracellular matrix  innate immune response  cornification  
NDEx NetworkPI3
Atlas of Cancer Signalling NetworkPI3
Wikipedia pathwaysPI3
Orthology - Evolution
OrthoDB5266
GeneTree (enSembl)ENSG00000124102
Phylogenetic Trees/Animal Genes : TreeFamPI3
Homologs : HomoloGenePI3
Homology/Alignments : Family Browser (UCSC)PI3
Gene fusions - Rearrangements
Fusion : MitelmanCPNE1/PI3 [20q11.22/20q13.12]  
Fusion : MitelmanWFDC2/PI3 [20q13.12/20q13.12]  
Fusion : QuiverPI3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPI3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PI3
dbVarPI3
ClinVarPI3
MonarchPI3
1000_GenomesPI3 
Exome Variant ServerPI3
GNOMAD BrowserENSG00000124102
Varsome BrowserPI3
ACMGPI3 variants
VarityP19957
Genomic Variants (DGV)PI3 [DGVbeta]
DECIPHERPI3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPI3 
Mutations
ICGC Data PortalPI3 
TCGA Data PortalPI3 
Broad Tumor PortalPI3
OASIS PortalPI3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPI3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPI3
Mutations and Diseases : HGMDPI3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPI3
DgiDB (Drug Gene Interaction Database)PI3
DoCM (Curated mutations)PI3
CIViC (Clinical Interpretations of Variants in Cancer)PI3
Cancer3DPI3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182257   
Orphanet
DisGeNETPI3
MedgenPI3
Genetic Testing Registry PI3
NextProtP19957 [Medical]
GENETestsPI3
Target ValidationPI3
Huge Navigator PI3 [HugePedia]
ClinGenPI3
Clinical trials, drugs, therapy
MyCancerGenomePI3
Protein Interactions : CTDPI3
Pharm GKB GenePA33283
PharosP19957
Clinical trialPI3
Miscellaneous
canSAR (ICR)PI3
HarmonizomePI3
DataMed IndexPI3
Probes
Litterature
PubMed96 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPI3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:25:13 CEST 2021

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