Gene Gene information from NCBI Gene database.
Entrez ID 54858
Gene name Pyroglutamyl-peptidase I
Gene symbol PGPEP1
Synonyms (NCBI Gene)
PAP-IPGIPGPPGP-IPGPIPcp
Chromosome 19
Chromosome location 19p13.11
Summary 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.
1419
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610694 13568 ENSG00000130517
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Anemia BEFREE 30906778
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27022229
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28932086
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28932086
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16126909, 19531650
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 12959682
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37722013 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease BEFREE 16702853
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 29392143
★☆☆☆☆
Found in Text Mining only