Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54858
Gene name Gene Name - the full gene name approved by the HGNC.
Pyroglutamyl-peptidase I
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PGPEP1
Synonyms (NCBI Gene) Gene synonyms aliases
PAP-I, PGI, PGP, PGP-I, PGPI, Pcp
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez Gene.
The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT708264 hsa-miR-6854-5p HITS-CLIP 19536157
MIRT708263 hsa-miR-1228-3p HITS-CLIP 19536157
MIRT708262 hsa-miR-383-3p HITS-CLIP 19536157
MIRT708261 hsa-miR-342-3p HITS-CLIP 19536157
MIRT708260 hsa-miR-7106-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0006508 Process Proteolysis IEA
GO:0008233 Function Peptidase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610694 13568 ENSG00000130517
Protein
UniProt ID Q9NXJ5
Protein name Pyroglutamyl-peptidase 1 (EC 3.4.19.3) (5-oxoprolyl-peptidase) (Pyroglutamyl aminopeptidase I) (PAP-I) (Pyroglutamyl-peptidase I) (PGP-I) (Pyrrolidone-carboxylate peptidase)
Protein function Removes 5-oxoproline from various penultimate amino acid residues except L-proline.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01470 Peptidase_C15 6 188 Pyroglutamyl peptidase Domain
Sequence
Sequence length 209
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Gastroesophageal Reflux Disease Gastroesophageal reflux disease N/A N/A GWAS
Hypertension Hypertension (PheCode 401), Essential hypertension (PheCode 401.1), Hypertension N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 37722013
Colorectal Neoplasms Associate 26078706, 37424115
Neoplasm Metastasis Associate 37722013
Neoplasms Inhibit 26078706
Pancreatic Neoplasms Associate 31917448