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PGPEP1 pyroglutamyl-peptidase I [ Homo sapiens (human) ]

Gene ID: 54858, updated on 24-Nov-2020

Summary

Official Symbol
PGPEP1provided by HGNC
Official Full Name
pyroglutamyl-peptidase Iprovided by HGNC
Primary source
HGNC:HGNC:13568
See related
Ensembl:ENSG00000130517 MIM:610694
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PGI; PGP; Pcp; PGPI; PAP-I; PGP-I
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 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]
Expression
Ubiquitous expression in kidney (RPKM 13.0), duodenum (RPKM 6.7) and 25 other tissues See more
Orthologs

Genomic context

See PGPEP1 in Genome Data Viewer
Location:
19p13.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18340598..18369950)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18451397..18480763)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene uncharacterized LOC105372300 Neighboring gene RNA, 7SL, cytoplasmic 513, pseudogene Neighboring gene Sharpr-MPRA regulatory region 798 Neighboring gene Sharpr-MPRA regulatory region 10546 Neighboring gene growth differentiation factor 15 Neighboring gene microRNA 3189

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of pyroglutamyl-peptidase I (PGPEP1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20208, MGC10812

Gene Ontology Provided by GOA

Function Evidence Code Pubs
pyroglutamyl-peptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
pyroglutamyl-peptidase 1
Names
5-oxoprolyl-peptidase
pGlu-peptidase I
pyroglutamyl aminopeptidase I
pyrrolidone-carboxylate peptidase
NP_001287856.1
NP_001295295.1
NP_001316400.1
NP_001316405.1
NP_001316406.1
NP_001316407.1
NP_060182.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051188.1 RefSeqGene

    Range
    5026..34378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001300927.2NP_001287856.1  pyroglutamyl-peptidase 1 isoform 2

    See identical proteins and their annotated locations for NP_001287856.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC008397, AK000215, AK289968, DB276426
    Consensus CDS
    CCDS74314.1
    UniProtKB/Swiss-Prot
    Q9NXJ5
    UniProtKB/TrEMBL
    U3KQ24
    Related
    ENSP00000475477.2, ENST00000597431.2
    Conserved Domains (1) summary
    cl00237
    Location:671
    Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...
  2. NM_001308366.2NP_001295295.1  pyroglutamyl-peptidase 1 isoform 3

    See identical proteins and their annotated locations for NP_001295295.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region that results in a frame-shift and a novel 3' coding region compared to variant 1. It encodes isoform 3, which is shorter than and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC008397, AI635563, AK289968, BC004942, DA738481
    Consensus CDS
    CCDS77264.1
    UniProtKB/Swiss-Prot
    Q9NXJ5
    UniProtKB/TrEMBL
    S4R2Y9
    Related
    ENSP00000473772.3, ENST00000604499.6
    Conserved Domains (1) summary
    cd00501
    Location:6146
    Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...
  3. NM_001329471.2NP_001316400.1  pyroglutamyl-peptidase 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (4) is the same length but contains a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI635563, AK289968, CF129240
    UniProtKB/Swiss-Prot
    Q9NXJ5
    Conserved Domains (1) summary
    cd00501
    Location:6146
    Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...
  4. NM_001329476.2NP_001316405.1  pyroglutamyl-peptidase 1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (6) is shorter and contains a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI635563, AK289968, BX473633
    UniProtKB/Swiss-Prot
    Q9NXJ5
    Conserved Domains (1) summary
    cl00237
    Location:668
    Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...
  5. NM_001329477.2NP_001316406.1  pyroglutamyl-peptidase 1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant 1. The encoded isoform (7) has a shorter N-terminus than isoform 1. Both variants 7 and 8 encode the same isoform (7).
    Source sequence(s)
    AC008397, AK289968, AK294497, BC004942
    Consensus CDS
    CCDS82319.1
    UniProtKB/Swiss-Prot
    Q9NXJ5
    Related
    ENSP00000252813.5, ENST00000252813.5
    Conserved Domains (1) summary
    cl00237
    Location:1122
    Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...
  6. NM_001329478.2NP_001316407.1  pyroglutamyl-peptidase 1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and uses a downstream translation start site compared to variant 1. The encoded isoform (7) has a shorter N-terminus than isoform 1. Both variants 7 and 8 encode the same isoform (7).
    Source sequence(s)
    AC008397, AK289968, BC004942, BC042138
    Consensus CDS
    CCDS82319.1
    UniProtKB/Swiss-Prot
    Q9NXJ5
    Conserved Domains (1) summary
    cl00237
    Location:1122
    Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...
  7. NM_017712.4NP_060182.1  pyroglutamyl-peptidase 1 isoform 1

    See identical proteins and their annotated locations for NP_060182.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC008397, AK000215, DA315740
    Consensus CDS
    CCDS12375.1
    UniProtKB/Swiss-Prot
    Q9NXJ5
    Related
    ENSP00000269919.3, ENST00000269919.11
    Conserved Domains (1) summary
    cd00501
    Location:6199
    Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...

RNA

  1. NR_138029.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008397, AK289968, BC004942, BC028063

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    18340598..18369950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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