U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    PREP prolyl endopeptidase [ Homo sapiens (human) ]

    Gene ID: 5550, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    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_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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools