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PREP prolyl endopeptidase [ Homo sapiens (human) ]

Gene ID: 5550, updated on 3-Nov-2024

Summary

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Official Symbol
PREPprovided by HGNC
Official Full Name
prolyl endopeptidaseprovided by HGNC
Primary source
HGNC:HGNC:9358
See related
Ensembl:ENSG00000085377 MIM:600400; AllianceGenome:HGNC:9358
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
PE; PEP
Summary
The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]
Annotation information
Note: The official gene symbol PREP (prolyl endopeptidase) on GeneID: 5550 can be confused with the alias for presequence protease (PREP) on GeneID: 10531 whose official symbol is PITRM1 (pitrilysin metallopeptidase 1). [20 Jun 2018]
Expression
Ubiquitous expression in colon (RPKM 8.2), testis (RPKM 5.6) and 25 other tissues See more
Orthologs
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Genomic context

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See PREP in Genome Data Viewer
Location:
6q21
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (105273218..105403082, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (106448949..106578910, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (105721093..105850957, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17427 Neighboring gene popeye domain cAMP effector 1 Neighboring gene POPDC1 antisense RNA 1 Neighboring gene popeye domain cAMP effector 3 Neighboring gene MPRA-validated peak5993 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:105681181-105681682 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:105681683-105682182 Neighboring gene ribosomal protein L7a pseudogene 35 Neighboring gene ribosomal protein L35 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24868 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:105845775-105846537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24869 Neighboring gene uncharacterized LOC105377921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24872 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:105969750-105970949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24873 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:106048698-106049897 Neighboring gene long intergenic non-protein coding RNA 2836

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Distribution of prolyl oligopeptidase in human peripheral tissues and in ovarian and colorectal tumors. Myöhänen TT, et al. J Histochem Cytochem, 2012 Sep. PMID 22740343, Free PMC Article
  2. A new side opening on prolyl oligopeptidase revealed by electron microscopy. Tarragó T, et al. FEBS Lett, 2009 Oct 20. PMID 19782684
  3. Increased prolyl endopeptidase activity in human neoplasia. Larrinaga G, et al. Regul Pept, 2010 Aug 9. PMID 20362629
  4. Deficient activity of mammalian prolyl oligopeptidase on the immunoactive peptide digestion in coeliac disease. Garcia-Horsman JA, et al. Scand J Gastroenterol, 2007 May. PMID 17454876
  5. Mechanism of oxidative inactivation of human presequence protease by hydrogen peroxide. Chen J, et al. Free Radic Biol Med, 2014 Dec. PMID 25236746, Free PMC Article

See all (90) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Preliminary Investigation on the Involvement of Cytoskeleton-Related Proteins, DAAM1 and PREP, in Human Testicular Disorders.
    Title: Preliminary Investigation on the Involvement of Cytoskeleton-Related Proteins, DAAM1 and PREP, in Human Testicular Disorders.
  2. Prolyl oligopeptidase inhibition reduces oxidative stress via reducing NADPH oxidase activity by activating protein phosphatase 2A.
    Title: Prolyl oligopeptidase inhibition reduces oxidative stress via reducing NADPH oxidase activity by activating protein phosphatase 2A.
  3. Prolyl Oligopeptidase Regulates Dopamine Transporter Oligomerization and Phosphorylation in a PKC- and ERK-Independent Manner.
    Title: Prolyl Oligopeptidase Regulates Dopamine Transporter Oligomerization and Phosphorylation in a PKC- and ERK-Independent Manner.
  4. DAAM1 and PREP are involved in human spermatogenesis.
    Title: DAAM1 and PREP are involved in human spermatogenesis.
  5. Prolyl oligopeptidase inhibition activates autophagy via protein phosphatase 2A.
    Title: Prolyl oligopeptidase inhibition activates autophagy via protein phosphatase 2A.
  6. Prolyl oligopeptidase inhibition reduces PolyQ aggregation and improves cell viability in cellular model of Huntington's disease.
    Title: Prolyl oligopeptidase inhibition reduces PolyQ aggregation and improves cell viability in cellular model of Huntington's disease.
  7. In mitotic phases, PREP shares its localization with tubulin in Sertoli cells, gonocytes, and spermatogonia.
    Title: Subcellular Localization of Prolyl Endopeptidase During the First Wave of Rat Spermatogenesis and in Rat and Human Sperm.
  8. These findings provide evidence for newly-discovered roles for PREP in mechanisms regulating cellular plasticity through NCAM and PSA-NCAM.
    Title: Prolyl endopeptidase is involved in the degradation of neural cell adhesion molecules in vitro.
  9. Study shows that the expression of POP increases with hepatocyte steatosis suggesting an important role in hepatocytes steatosis and possibly NAFLD.
    Title: Prolyl Oligopeptidase Inhibition Attenuates Steatosis in the L02 Human Liver Cell Line.
  10. It was found that human PREP behaves identically to the porcine homolog, displaying a double bell-shaped pH profile and a pH-dependent solvent kinetic isotope effect of the kcat/Km, features that set it apart from the related exopeptidase dipeptidyl peptidase IV (DPP IV).
    Title: Ligand-induced conformational changes in prolyl oligopeptidase: a kinetic approach.
Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC16060

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables oligopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables serine-type peptidase activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
prolyl endopeptidase
Names
dJ355L5.1 (prolyl endopeptidase)
post-proline cleaving enzyme
prolyl oligopeptidase
NP_002717.3
XP_005267101.1
XP_011534227.1
XP_054211775.1
XP_054211776.1

NCBI Reference Sequences (RefSeq)

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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_011472.1 RefSeqGene

    Range
    4971..130528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002726.5 → NP_002717.3  prolyl endopeptidase

    See identical proteins and their annotated locations for NP_002717.3

    Status: REVIEWED

    Source sequence(s)
    AK314195, AL133406, BC030636
    Consensus CDS
    CCDS5053.1
    UniProtKB/Swiss-Prot
    P48147, Q8N6D4
    UniProtKB/TrEMBL
    B2RAH7
    Related
    ENSP00000499089.1, ENST00000652536.2
    Conserved Domains (2) summary
    COG1505
    Location:26 → 704
    PreP; Prolyl oligopeptidase PreP, S9A serine peptidase family [Amino acid transport and metabolism]
    pfam00326
    Location:482 → 707
    Peptidase_S9; Prolyl oligopeptidase family

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    105273218..105403082 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535925.4 → XP_011534227.1  prolyl endopeptidase isoform X1

    Conserved Domains (1) summary
    pfam02897
    Location:7 → 423
    Peptidase_S9_N; Prolyl oligopeptidase, N-terminal beta-propeller domain

  2. XM_005267044.4 → XP_005267101.1  prolyl endopeptidase isoform X2

    Conserved Domains (1) summary
    pfam02897
    Location:7 → 423
    Peptidase_S9_N; Prolyl oligopeptidase, N-terminal beta-propeller domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    106448949..106578910 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355800.1 → XP_054211775.1  prolyl endopeptidase isoform X1

  2. XM_054355801.1 → XP_054211776.1  prolyl endopeptidase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48147.2 GenPept UniProtKB/Swiss-Prot:P48147

Gene LinkOut

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