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Aliases for PGPEP1 Gene

Aliases for PGPEP1 Gene

  • Pyroglutamyl-Peptidase I 2 3 4 5
  • Pyrrolidone-Carboxylate Peptidase 3 4
  • Pyroglutamyl Aminopeptidase I 3 4
  • 5-Oxoprolyl-Peptidase 3 4
  • PAP-I 3 4
  • PGP-I 3 4
  • PGPI 3 4
  • Pyroglutamyl Aminopeptidase 2
  • Pyroglutamyl-Peptidase 1 3
  • PGlu-Peptidase I 3
  • EC 3.4.19.3 4
  • PGI 3
  • PCP 3
  • PGP 3

External Ids for PGPEP1 Gene

Previous GeneCards Identifiers for PGPEP1 Gene

  • GC00U990891
  • GC19P018296
  • GC19P018312
  • GC19P018451
  • GC19P018015
  • GC19P018342
  • GC19P018519
  • GC19P018522
  • GC19P018719
  • GC19P019031
  • GC19P019348

Summaries for PGPEP1 Gene

Entrez Gene Summary for PGPEP1 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 of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]

GeneCards Summary for PGPEP1 Gene

PGPEP1 (Pyroglutamyl-Peptidase I) is a Protein Coding gene. Diseases associated with PGPEP1 include Liver Cirrhosis and Endocervicitis. Gene Ontology (GO) annotations related to this gene include cysteine-type peptidase activity and pyroglutamyl-peptidase activity. An important paralog of this gene is PGPEP1L.

UniProtKB/Swiss-Prot for PGPEP1 Gene

  • Removes 5-oxoproline from various penultimate amino acid residues except L-proline.

Gene Wiki entry for PGPEP1 Gene

Additional gene information for PGPEP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGPEP1 Gene

Genomics for PGPEP1 Gene

GeneHancer (GH) Regulatory Elements for PGPEP1 Gene

Promoters and enhancers for PGPEP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I018337 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 593.4 -0.3 -335 5.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 SLC30A9 ZNF766 E2F8 ZNF143 PGPEP1 RN7SL513P
GH19I018315 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -20.6 -20581 9.4 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 LSM4 UPF1 ELL IQCN ENSG00000268030 ENSG00000268938 COLGALT1 ENSG00000269191 PGPEP1 NR2C2AP
GH19I018346 Enhancer 0.6 ENCODE 42.9 +5.9 5870 0.9 CTCF KLF1 RFX1 KLF4 SP1 ARHGAP35 SCRT2 PRDM10 PGPEP1 GDF15
GH19I018328 Enhancer 1.4 FANTOM5 Ensembl ENCODE 16 -11.7 -11712 1.7 HDGF PKNOX1 ATF1 ARNT SIN3A ZBTB7B ZNF48 YY1 NCOA2 ZNF766 PGPEP1 LSM4 LRRC25 MPV17L2 RN7SL513P
GH19I018372 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.9 +40.5 40518 18 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 GDF15 NR2C2AP ENSG00000268030 UPF1 ENSG00000268938 MEF2B COLGALT1 SUGP2 MVB12A IQCN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PGPEP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGPEP1 gene promoter:

Genomic Locations for PGPEP1 Gene

Genomic Locations for PGPEP1 Gene
chr19:18,340,582-18,369,953
(GRCh38/hg38)
Size:
29,372 bases
Orientation:
Plus strand
chr19:18,451,397-18,480,763
(GRCh37/hg19)

Genomic View for PGPEP1 Gene

Genes around PGPEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGPEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGPEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGPEP1 Gene

Proteins for PGPEP1 Gene

  • Protein details for PGPEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXJ5-PGPI_HUMAN
    Recommended name:
    Pyroglutamyl-peptidase 1
    Protein Accession:
    Q9NXJ5
    Secondary Accessions:
    • A8K1Q3
    • Q8IVT1

    Protein attributes for PGPEP1 Gene

    Size:
    209 amino acids
    Molecular mass:
    23138 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for PGPEP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGPEP1 Gene

Post-translational modifications for PGPEP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PGPEP1 Gene

Domains & Families for PGPEP1 Gene

Gene Families for PGPEP1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9NXJ5

UniProtKB/Swiss-Prot:

PGPI_HUMAN :
  • Belongs to the peptidase C15 family.
Family:
  • Belongs to the peptidase C15 family.
genes like me logo Genes that share domains with PGPEP1: view

Function for PGPEP1 Gene

Molecular function for PGPEP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Release of an N-terminal pyroglutamyl group from a polypeptide, the second amino acid generally not being Pro.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by transition metal ions including Ni(2+), Zn(2+), and Cu(2+) and by sulfhydryl-blocking agents.
UniProtKB/Swiss-Prot Function:
Removes 5-oxoproline from various penultimate amino acid residues except L-proline.

Enzyme Numbers (IUBMB) for PGPEP1 Gene

Phenotypes From GWAS Catalog for PGPEP1 Gene

Gene Ontology (GO) - Molecular Function for PGPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016920 pyroglutamyl-peptidase activity IEA --
genes like me logo Genes that share ontologies with PGPEP1: view
genes like me logo Genes that share phenotypes with PGPEP1: view

Animal Model Products

CRISPR Products

miRNA for PGPEP1 Gene

miRTarBase miRNAs that target PGPEP1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGPEP1 Gene

Localization for PGPEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGPEP1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGPEP1 gene
Compartment Confidence
cytosol 5
extracellular 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PGPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA,IEA --
genes like me logo Genes that share ontologies with PGPEP1: view

Pathways & Interactions for PGPEP1 Gene

SuperPathways for PGPEP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PGPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IBA,IEA --
genes like me logo Genes that share ontologies with PGPEP1: view

No data available for Pathways by source and SIGNOR curated interactions for PGPEP1 Gene

Drugs & Compounds for PGPEP1 Gene

No Compound Related Data Available

Transcripts for PGPEP1 Gene

Unigene Clusters for PGPEP1 Gene

Pyroglutamyl-peptidase I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGPEP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: -
SP2: - -
SP3: - - -
SP4: -
SP5: - - -
SP6: - - -

Relevant External Links for PGPEP1 Gene

GeneLoc Exon Structure for
PGPEP1
ECgene alternative splicing isoforms for
PGPEP1

Expression for PGPEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PGPEP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PGPEP1 Gene

This gene is overexpressed in Testis (11.9), Islet of Langerhans (9.2), Spinal cord (8.5), and Kidney (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PGPEP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PGPEP1 Gene:

PGPEP1

SOURCE GeneReport for Unigene cluster for PGPEP1 Gene:

Hs.131776

Evidence on tissue expression from TISSUES for PGPEP1 Gene

  • Nervous system(4.7)
  • Intestine(4.4)
  • Blood(4.3)
  • Kidney(2.5)
  • Pancreas(2.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with PGPEP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PGPEP1 Gene

Orthologs for PGPEP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PGPEP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PGPEP1 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia PGPEP1 34
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PGPEP1 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PGPEP1 33 34
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Pgpep1 33
  • 82.37 (n)
mouse
(Mus musculus)
Mammalia Pgpep1 33 16 34
  • 82.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PGPEP1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PGPEP1 33 34
  • 77.5 (n)
lizard
(Anolis carolinensis)
Reptilia PGPEP1 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pgpep1 33
  • 71.34 (n)
zebrafish
(Danio rerio)
Actinopterygii pgpep1 33 34
  • 70.05 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7142 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006964 33
  • 46.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32147 33 34
  • 44.68 (n)
worm
(Caenorhabditis elegans)
Secernentea M04C9.3 33
  • 46.88 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
Species where no ortholog for PGPEP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PGPEP1 Gene

ENSEMBL:
Gene Tree for PGPEP1 (if available)
TreeFam:
Gene Tree for PGPEP1 (if available)

Paralogs for PGPEP1 Gene

Paralogs for PGPEP1 Gene

(1) SIMAP similar genes for PGPEP1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with PGPEP1: view

Variants for PGPEP1 Gene

Sequence variations from dbSNP and Humsavar for PGPEP1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs193921074 uncertain-significance, Malignant tumor of prostate 18,357,612(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs1000047599 -- 18,364,601(+) G/A 3_prime_UTR_variant, intron_variant
rs1000080992 -- 18,366,474(+) T/C 3_prime_UTR_variant, intron_variant
rs1000119138 -- 18,352,144(+) T/C intron_variant
rs1000152514 -- 18,370,385(+) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PGPEP1 Gene

Variant ID Type Subtype PubMed ID
esv3643837 CNV loss 21293372
nsv952420 CNV deletion 24416366

Variation tolerance for PGPEP1 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGPEP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGPEP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGPEP1 Gene

Disorders for PGPEP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PGPEP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
liver cirrhosis
  • cirrhosis
endocervicitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PGPEP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PGPEP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PGPEP1 Gene

Publications for PGPEP1 Gene

  1. Pyroglutamyl-peptidase I: cloning, sequencing, and characterisation of the recombinant human enzyme. (PMID: 12651114) Dando PM … Barrett AJ (Protein expression and purification 2003) 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PMID: 20889312) Wang KS … Aragam N (Schizophrenia research 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Pyroglutamyl peptidase I and prolyl endopeptidase in human semen: increased activity in necrozoospermia. (PMID: 15380924) Valdivia A … Casis L (Regulatory peptides 2004) 3 22 58

Products for PGPEP1 Gene

Sources for PGPEP1 Gene

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