Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PGPEP1 (pyroglutamyl-peptidase I)

Identity

Alias_symbol (synonym)PGP-I
Pcp
PGP
PGPI
Other aliasPAP-I
PGI
HGNC (Hugo) PGPEP1
LocusID (NCBI) 54858
Atlas_Id 46666
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 18340587 and ends at 18369953 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)
GTF2I (7q11.23) / PGPEP1 (19p13.11)PGPEP1 (19p13.11) / FKBP8 (19p13.11)PGPEP1 (19p13.11) / KDM4C (9p24.1)
PGPEP1 19p13.11 / KDM4C 9p24.1

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)PGPEP1   13568
Cards
Entrez_Gene (NCBI)PGPEP1  54858  pyroglutamyl-peptidase I
AliasesPAP-I; PGI; PGP; PGP-I; 
PGPI; Pcp
GeneCards (Weizmann)PGPEP1
Ensembl hg19 (Hinxton)ENSG00000130517 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130517 [Gene_View]  chr19:18340587-18369953 [Contig_View]  PGPEP1 [Vega]
ICGC DataPortalENSG00000130517
TCGA cBioPortalPGPEP1
AceView (NCBI)PGPEP1
Genatlas (Paris)PGPEP1
WikiGenes54858
SOURCE (Princeton)PGPEP1
Genetics Home Reference (NIH)PGPEP1
Genomic and cartography
GoldenPath hg38 (UCSC)PGPEP1  -     chr19:18340587-18369953 +  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PGPEP1  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblPGPEP1 - 19p13.11 [CytoView hg19]  PGPEP1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIPGPEP1 [Mapview hg19]  PGPEP1 [Mapview hg38]
OMIM610694   
Gene and transcription
Genbank (Entrez)AI635563 AJ278828 AK000215 AK025948 AK289968
RefSeq transcript (Entrez)NM_001300927 NM_001308366 NM_001329471 NM_001329476 NM_001329477 NM_001329478 NM_017712
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PGPEP1
Cluster EST : UnigeneHs.131776 [ NCBI ]
CGAP (NCI)Hs.131776
Alternative Splicing GalleryENSG00000130517
Gene ExpressionPGPEP1 [ NCBI-GEO ]   PGPEP1 [ EBI - ARRAY_EXPRESS ]   PGPEP1 [ SEEK ]   PGPEP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PGPEP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54858
GTEX Portal (Tissue expression)PGPEP1
Human Protein AtlasENSG00000130517-PGPEP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NXJ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NXJ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NXJ5
Splice isoforms : SwissVarQ9NXJ5
Catalytic activity : Enzyme3.4.19.3 [ Enzyme-Expasy ]   3.4.19.33.4.19.3 [ IntEnz-EBI ]   3.4.19.3 [ BRENDA ]   3.4.19.3 [ KEGG ]   
PhosPhoSitePlusQ9NXJ5
Domaine pattern : Prosite (Expaxy)PYRASE_CYS (PS01334)    PYRASE_GLU (PS01333)   
Domains : Interpro (EBI)Peptidase_C15    Peptidase_C15-like    PGP-I_metazoa    PGPEP1_Cys_AS    PGPEP1_Glu_AS   
Domain families : Pfam (Sanger)Peptidase_C15 (PF01470)   
Domain families : Pfam (NCBI)pfam01470   
Conserved Domain (NCBI)PGPEP1
DMDM Disease mutations54858
Blocks (Seattle)PGPEP1
SuperfamilyQ9NXJ5
Human Protein Atlas [tissue]ENSG00000130517-PGPEP1 [tissue]
Peptide AtlasQ9NXJ5
HPRD07141
IPIIPI00020539   IPI00807577   IPI00643242   
Protein Interaction databases
DIP (DOE-UCLA)Q9NXJ5
IntAct (EBI)Q9NXJ5
FunCoupENSG00000130517
BioGRIDPGPEP1
STRING (EMBL)PGPEP1
ZODIACPGPEP1
Ontologies - Pathways
QuickGOQ9NXJ5
Ontology : AmiGOcytosol  proteolysis  cysteine-type peptidase activity  pyroglutamyl-peptidase activity  
Ontology : EGO-EBIcytosol  proteolysis  cysteine-type peptidase activity  pyroglutamyl-peptidase activity  
NDEx NetworkPGPEP1
Atlas of Cancer Signalling NetworkPGPEP1
Wikipedia pathwaysPGPEP1
Orthology - Evolution
OrthoDB54858
GeneTree (enSembl)ENSG00000130517
Phylogenetic Trees/Animal Genes : TreeFamPGPEP1
HOVERGENQ9NXJ5
HOGENOMQ9NXJ5
Homologs : HomoloGenePGPEP1
Homology/Alignments : Family Browser (UCSC)PGPEP1
Gene fusions - Rearrangements
Fusion : MitelmanGTF2I/PGPEP1 [7q11.23/19p13.11]  [t(7;19)(q11;p13)]  
Fusion : MitelmanPGPEP1/KDM4C [19p13.11/9p24.1]  [t(9;19)(p24;p13)]  
Fusion: TCGA_MDACCPGPEP1 19p13.11 KDM4C 9p24.1 BRCA
Tumor Fusion PortalPGPEP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGPEP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGPEP1
dbVarPGPEP1
ClinVarPGPEP1
1000_GenomesPGPEP1 
Exome Variant ServerPGPEP1
ExAC (Exome Aggregation Consortium)ENSG00000130517
GNOMAD BrowserENSG00000130517
Genetic variants : HAPMAP54858
Genomic Variants (DGV)PGPEP1 [DGVbeta]
DECIPHERPGPEP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPGPEP1 
Mutations
ICGC Data PortalPGPEP1 
TCGA Data PortalPGPEP1 
Broad Tumor PortalPGPEP1
OASIS PortalPGPEP1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPGPEP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PGPEP1
DgiDB (Drug Gene Interaction Database)PGPEP1
DoCM (Curated mutations)PGPEP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGPEP1 (select a term)
intoGenPGPEP1
Cancer3DPGPEP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610694   
Orphanet
DisGeNETPGPEP1
MedgenPGPEP1
Genetic Testing Registry PGPEP1
NextProtQ9NXJ5 [Medical]
TSGene54858
GENETestsPGPEP1
Target ValidationPGPEP1
Huge Navigator PGPEP1 [HugePedia]
snp3D : Map Gene to Disease54858
BioCentury BCIQPGPEP1
ClinGenPGPEP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54858
Chemical/Pharm GKB GenePA33247
Clinical trialPGPEP1
Miscellaneous
canSAR (ICR)PGPEP1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGPEP1
EVEXPGPEP1
GoPubMedPGPEP1
iHOPPGPEP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:28:32 CET 2017

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