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

    Gene ID: 54858, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:13568
    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
    NEW
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    Genomic context

    See PGPEP1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18340598..18369950)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18474715..18504090)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18451408..18480760)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372300 Neighboring gene LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene Sharpr-MPRA regulatory region 14103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18429424-18430170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14313 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:18434425-18435027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14314 Neighboring gene uncharacterized LOC124904654 Neighboring gene RNA, 7SL, cytoplasmic 513, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18451278-18451965 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:18454745-18455584 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:18455585-18456422 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:18456925-18457507 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18460464-18460672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18472794-18473579 Neighboring gene Sharpr-MPRA regulatory region 798 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:18484262-18485461 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18486310-18486537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18491252-18491819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18496512-18497334 Neighboring gene microRNA 3189 Neighboring gene growth differentiation factor 15 Neighboring gene leucine rich repeat containing 25

    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

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ20208, MGC10812

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyroglutamyl-peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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/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/TrEMBL
      S4R2Y9, U3KQG9
      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
      A8K1Q3, Q8IVT1, 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      18474715..18504090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)