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    Prepl prolyl endopeptidase-like [ Mus musculus (house mouse) ]

    Gene ID: 213760, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Preplprovided by MGI
    Official Full Name
    prolyl endopeptidase-likeprovided by MGI
    Primary source
    MGI:MGI:2441932
    See related
    Ensembl:ENSMUSG00000024127 AllianceGenome:MGI:2441932
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0436; 2810457N15Rik; 9530014L06Rik; D030028O16Rik
    Summary
    Enables peptidase activity. Involved in Golgi to plasma membrane protein transport and retrograde transport, endosome to Golgi. Located in Golgi apparatus and cytoskeleton. Colocalizes with trans-Golgi network. Is expressed in several structures, including diaphragm; nervous system; retina; tongue; and vertebral axis musculature. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 22. Orthologous to human PREPL (prolyl endopeptidase like). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in cerebellum adult (RPKM 82.5), cortex adult (RPKM 70.3) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Prepl in Genome Data Viewer
    Location:
    17 E4; 17 55.19 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (85370122..85397702, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (85062511..85090504, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_43453 Neighboring gene post-GPI attachment to proteins 2 pseudogene Neighboring gene RIKEN cDNA 1110020A21 gene Neighboring gene STARR-seq mESC enhancer starr_43455 Neighboring gene STARR-seq mESC enhancer starr_43456 Neighboring gene STARR-positive B cell enhancer mm9_chr17:85356735-85357036 Neighboring gene STARR-seq mESC enhancer starr_43457 Neighboring gene protein phosphatase 1B, magnesium dependent, beta isoform Neighboring gene STARR-positive B cell enhancer ABC_E9445 Neighboring gene solute carrier family 3, member 1 Neighboring gene STARR-positive B cell enhancer ABC_E4233 Neighboring gene STARR-seq mESC enhancer starr_43458 Neighboring gene calmodulin-lysine N-methyltransferase Neighboring gene STARR-seq mESC enhancer starr_43460 Neighboring gene STARR-seq mESC enhancer starr_43463 Neighboring gene STARR-positive B cell enhancer mm9_chr17:85588997-85589298 Neighboring gene STARR-seq mESC enhancer starr_43464 Neighboring gene predicted gene, 36826 Neighboring gene STARR-seq mESC enhancer starr_43465 Neighboring gene STARR-seq mESC enhancer starr_43466 Neighboring gene STARR-seq mESC enhancer starr_43468 Neighboring gene STARR-seq mESC enhancer starr_43469 Neighboring gene ribosomal protein L31, pseudogene 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function. Rosier K, et al. iScience, 2021 Dec 17. PMID 34888501, Free PMC Article
    2. Deletion of PREPl causes growth impairment and hypotonia in mice. Lone AM, et al. PLoS One, 2014. PMID 24586561, Free PMC Article
    3. Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis. Duarte ML, et al. Mol Pharmacol, 2023 Jul. PMID 37147110, Free PMC Article
    4. A substrate-free activity-based protein profiling screen for the discovery of selective PREPL inhibitors. Lone AM, et al. J Am Chem Soc, 2011 Aug 3. PMID 21692504, Free PMC Article
    5. Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome. Bhalla K, et al. Biochim Biophys Acta Mol Basis Dis, 2024 Jun. PMID 38626828

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.
      Title: Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.
    2. The data demonstrate PREPL as an AP-1 effector that takes part in the regulation of AP-1 membrane binding. PREPL is highly expressed in brain and at lower levels in muscle and kidney.
      Title: Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit μ1A.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC7980

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables peptidase activity ISO
    Inferred from Sequence Orthology
    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
    		  
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synaptic vesicle exocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of synaptic vesicle exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with trans-Golgi network IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    prolyl endopeptidase-like
    NP_001157094.1
    NP_001157095.1
    NP_001157096.1
    NP_666096.3
    XP_006524064.1

    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.

    mRNA and Protein(s)

    1. NM_001163622.1 → NP_001157094.1  prolyl endopeptidase-like isoform a

      See identical proteins and their annotated locations for NP_001157094.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK028877, AK083070, BU058006, BY146774
      Consensus CDS
      CCDS50202.1
      UniProtKB/Swiss-Prot
      Q3TR35, Q6ZQB4, Q8BUP5, Q8C167, Q99KJ9
      UniProtKB/TrEMBL
      Q8BKS6
      Related
      ENSMUSP00000130967.2, ENSMUST00000171795.9
      Conserved Domains (2) summary
      COG1770
      Location:113 → 661
      PtrB; Protease II [Amino acid transport and metabolism]
      cl21494
      Location:487 → 647
      Abhydrolase; alpha/beta hydrolases

    2. NM_001163623.1 → NP_001157095.1  prolyl endopeptidase-like isoform b

      See identical proteins and their annotated locations for NP_001157095.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 1, 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AK050878, AK083070, BU058006, BY146774
      Consensus CDS
      CCDS29005.1
      UniProtKB/TrEMBL
      Q8BKS6
      Related
      ENSMUSP00000072239.4, ENSMUST00000072406.5
      Conserved Domains (1) summary
      COG1770
      Location:26 → 574
      PtrB; Protease II [Amino acid transport and metabolism]

    3. NM_001163624.1 → NP_001157096.1  prolyl endopeptidase-like isoform b

      See identical proteins and their annotated locations for NP_001157096.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 1, 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AK050878, AK083070, BU058006, BY257815
      Consensus CDS
      CCDS29005.1
      UniProtKB/TrEMBL
      Q8BKS6
      Conserved Domains (1) summary
      COG1770
      Location:26 → 574
      PtrB; Protease II [Amino acid transport and metabolism]

    4. NM_145984.3 → NP_666096.3  prolyl endopeptidase-like isoform b

      See identical proteins and their annotated locations for NP_666096.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 1, 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AK050878, AK083070, BU058006, BY146774
      Consensus CDS
      CCDS29005.1
      UniProtKB/TrEMBL
      Q8BKS6
      Conserved Domains (1) summary
      COG1770
      Location:26 → 574
      PtrB; Protease II [Amino acid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      85370122..85397702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524001.5 → XP_006524064.1  prolyl endopeptidase-like isoform X1

      See identical proteins and their annotated locations for XP_006524064.1

      UniProtKB/TrEMBL
      Q8BKS6
      Conserved Domains (1) summary
      COG1770
      Location:26 → 574
      PtrB; Protease II [Amino acid transport and metabolism]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C167.1 GenPept UniProtKB/Swiss-Prot:Q8C167

    Gene LinkOut

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

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