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    PREPL prolyl endopeptidase like [ Homo sapiens (human) ]

    Gene ID: 9581, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PREPLprovided by HGNC
    Official Full Name
    prolyl endopeptidase likeprovided by HGNC
    Primary source
    HGNC:HGNC:30228
    See related
    Ensembl:ENSG00000138078 MIM:609557; AllianceGenome:HGNC:30228
    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
    CMS22
    Summary
    The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
    Expression
    Broad expression in brain (RPKM 66.6), kidney (RPKM 33.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p21
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (44317607..44361862, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (44322928..44367164, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44544746..44589001, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1B Neighboring gene uncharacterized LOC124906174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:44513823-44514378 Neighboring gene ribosomal protein L12 pseudogene 19 Neighboring gene solute carrier family 3 member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:44558969-44559142 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:44588276-44589475 Neighboring gene MPRA-validated peak3688 silencer Neighboring gene uncharacterized LOC124905998 Neighboring gene uncharacterized LOC124907759 Neighboring gene calmodulin-lysine N-methyltransferase

    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
    • 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. A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. Shchagina O, et al. Genes (Basel), 2020 Jul 19. PMID 32707643, Free PMC Article
    2. The second point mutation in PREPL: a case report and literature review. Silva S, et al. J Hum Genet, 2018 May. PMID 29483676
    3. PREPL: a putative novel oligopeptidase propelled into the limelight. Martens K, et al. Biol Chem, 2006 Jul. PMID 16913837
    4. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Jaeken J, et al. Am J Hum Genet, 2006 Jan. PMID 16385448, Free PMC Article
    5. The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity. Szeltner Z, et al. Cell Mol Life Sci, 2005 Oct. PMID 16143824

    See all (46) 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. A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.
      Title: A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.
    3. we report the first homozygous PREPL point mutation in a girl with typical PREPL deficiency. This syndrome should be considered in the differential diagnosis of hypotonic neonates exhibiting myasthenic symptoms, hyperphagia, and various degrees of ID.
      Title: The second point mutation in PREPL: a case report and literature review.
    4. Deletion of PREPL is associated with Hypotonia-cystinuria syndrome.
      Title: Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
    5. Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients.
      Title: Two novel deletions in hypotonia-cystinuria syndrome.
    6. Two key transcription factors, NRF-2 and YY-1, were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 genes pairin an additive manner.
      Title: Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.
    7. a deletion of PREPL causes atypical hypotonia-cystinuria syndrome
      Title: Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
    8. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
      Title: Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
    9. Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency
      Title: PREPL: a putative novel oligopeptidase propelled into the limelight.
    10. description of L-leucine transport into bladder carcinoma cells
      Title: Characterization of the system L amino acid transporter in T24 human bladder carcinoma cells.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    Associated conditions

    Description Tests
    Myasthenic syndrome, congenital, 22
    MedGen: C4479088 OMIM: 616224 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16627, KIAA0436

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synaptic vesicle exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    prolyl endopeptidase-like
    Names
    putative prolyl oligopeptidase
    NP_001035844.1
    NP_001035845.1
    NP_001165074.1
    NP_001165077.1
    NP_001165084.1
    NP_001165088.1
    NP_001361204.1
    NP_001361205.1
    NP_001361206.1
    NP_006027.2
    XP_016860874.1
    XP_047302397.1
    XP_047302398.1
    XP_047302399.1
    XP_047302400.1
    XP_047302401.1
    XP_047302402.1
    XP_054200636.1
    XP_054200637.1
    XP_054200638.1
    XP_054200639.1
    XP_054200640.1
    XP_054200641.1
    XP_054200642.1

    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_016429.1 RefSeqGene

      Range
      5369..49256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042385.2 → NP_001035844.1  prolyl endopeptidase-like isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as variant E) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC013717, BC151236, CA951923, DQ023506, DQ023507
      Consensus CDS
      CCDS42675.1
      UniProtKB/Swiss-Prot
      Q4J6C6
      Related
      ENSP00000367772.3, ENST00000378511.7
      Conserved Domains (2) summary
      COG1770
      Location:113 → 601
      PtrB; Protease II [Amino acid transport and metabolism]
      cl21494
      Location:427 → 630
      Abhydrolase; alpha/beta hydrolases

    2. NM_001042386.2 → NP_001035845.1  prolyl endopeptidase-like isoform 3

      See identical proteins and their annotated locations for NP_001035845.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as variant D) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC013717, BC151236, CA951923, DQ023507
      Consensus CDS
      CCDS42676.1
      UniProtKB/Swiss-Prot
      Q4J6C6
      Related
      ENSP00000367781.3, ENST00000378520.7
      Conserved Domains (2) summary
      COG1770
      Location:113 → 583
      PtrB; Protease II [Amino acid transport and metabolism]
      cl21494
      Location:423 → 626
      Abhydrolase; alpha/beta hydrolases

    3. NM_001171603.1 → NP_001165074.1  prolyl endopeptidase-like isoform 1

      See identical proteins and their annotated locations for NP_001165074.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as variant C1) contains an additional 5' non-coding exon compared to variant 1. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      AC013717, BC151236, BG717492, CA951923, DA410514, DQ023505
      Consensus CDS
      CCDS33190.1
      UniProtKB/Swiss-Prot
      A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
      Related
      ENSP00000386909.1, ENST00000409272.5
      Conserved Domains (1) summary
      COG1770
      Location:113 → 649
      PtrB; Protease II [Amino acid transport and metabolism]

    4. NM_001171606.2 → NP_001165077.1  prolyl endopeptidase-like isoform 1

      See identical proteins and their annotated locations for NP_001165077.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an additional 5' non-coding exon compared to variant 1. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      AC013717, BC151236, CA951923, CX166315, DA246860, DQ023505
      Consensus CDS
      CCDS33190.1
      UniProtKB/Swiss-Prot
      A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
      Related
      ENSP00000386543.1, ENST00000409936.5
      Conserved Domains (1) summary
      COG1770
      Location:113 → 649
      PtrB; Protease II [Amino acid transport and metabolism]

    5. NM_001171613.2 → NP_001165084.1  prolyl endopeptidase-like isoform 4

      See identical proteins and their annotated locations for NP_001165084.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG and a shorter isoform (4) compared to isoform 1. Variants 6 and 7 encode the same isoform.
      Source sequence(s)
      AC013717, BC151236, CA951923, DA246860, DQ023505
      Consensus CDS
      CCDS54353.1
      UniProtKB/Swiss-Prot
      Q4J6C6
      Related
      ENSP00000387095.2, ENST00000409411.6
      Conserved Domains (1) summary
      COG1770
      Location:24 → 574
      PtrB; Protease II [Amino acid transport and metabolism]

    6. NM_001171617.1 → NP_001165088.1  prolyl endopeptidase-like isoform 4

      See identical proteins and their annotated locations for NP_001165088.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7, also known as variant B) contains an alternate exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG and a shorter isoform (4) compared to isoform 1. Variants 6 and 7 encode the same isoform.
      Source sequence(s)
      AC013717, BC151236, BG717492, CA951923, DA410514, DQ023505
      Consensus CDS
      CCDS54353.1
      UniProtKB/Swiss-Prot
      Q4J6C6
      Related
      ENSP00000439626.1, ENST00000541738.5
      Conserved Domains (1) summary
      COG1770
      Location:24 → 574
      PtrB; Protease II [Amino acid transport and metabolism]

    7. NM_001374275.1 → NP_001361204.1  prolyl endopeptidase-like isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013717, AC016703
      Consensus CDS
      CCDS33190.1
      UniProtKB/Swiss-Prot
      A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
      Conserved Domains (1) summary
      COG1770
      Location:113 → 649
      PtrB; Protease II [Amino acid transport and metabolism]

    8. NM_001374276.1 → NP_001361205.1  prolyl endopeptidase-like isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013717, AC016703
      Consensus CDS
      CCDS33190.1
      UniProtKB/Swiss-Prot
      A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
      Related
      ENSP00000386509.1, ENST00000410081.5
      Conserved Domains (1) summary
      COG1770
      Location:113 → 649
      PtrB; Protease II [Amino acid transport and metabolism]

    9. NM_001374277.1 → NP_001361206.1  prolyl endopeptidase-like isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC013717, AC016703
      Consensus CDS
      CCDS54353.1
      Related
      ENSP00000387241.1, ENST00000409957.5
      Conserved Domains (1) summary
      COG1770
      Location:24 → 574
      PtrB; Protease II [Amino acid transport and metabolism]

    10. NM_006036.4 → NP_006027.2  prolyl endopeptidase-like isoform 1

      See identical proteins and their annotated locations for NP_006027.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as variant C) represents the longest transcript, and encodes the longest isoform (1). Variants 1-3 encode the same isoform.
      Source sequence(s)
      AC013717, BC151236, CA951923, DQ023505
      Consensus CDS
      CCDS33190.1
      UniProtKB/Swiss-Prot
      A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
      Related
      ENSP00000260648.6, ENST00000260648.10
      Conserved Domains (1) summary
      COG1770
      Location:113 → 649
      PtrB; Protease II [Amino acid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      44317607..44361862 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446444.1 → XP_047302400.1  prolyl endopeptidase-like isoform X2

    2. XM_047446443.1 → XP_047302399.1  prolyl endopeptidase-like isoform X2

    3. XM_017005385.2 → XP_016860874.1  prolyl endopeptidase-like isoform X1

      UniProtKB/Swiss-Prot
      A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
      Conserved Domains (1) summary
      COG1770
      Location:113 → 649
      PtrB; Protease II [Amino acid transport and metabolism]

    4. XM_047446446.1 → XP_047302402.1  prolyl endopeptidase-like isoform X4

    5. XM_047446445.1 → XP_047302401.1  prolyl endopeptidase-like isoform X3

    6. XM_047446442.1 → XP_047302398.1  prolyl endopeptidase-like isoform X2

    7. XM_047446441.1 → XP_047302397.1  prolyl endopeptidase-like isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      44322928..44367164 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344665.1 → XP_054200640.1  prolyl endopeptidase-like isoform X2

    2. XM_054344664.1 → XP_054200639.1  prolyl endopeptidase-like isoform X2

    3. XM_054344661.1 → XP_054200636.1  prolyl endopeptidase-like isoform X1

      UniProtKB/Swiss-Prot
      A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7

    4. XM_054344667.1 → XP_054200642.1  prolyl endopeptidase-like isoform X4

    5. XM_054344666.1 → XP_054200641.1  prolyl endopeptidase-like isoform X3

    6. XM_054344663.1 → XP_054200638.1  prolyl endopeptidase-like isoform X2

    7. XM_054344662.1 → XP_054200637.1  prolyl endopeptidase-like isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4J6C6.1 GenPept UniProtKB/Swiss-Prot:Q4J6C6

    Gene LinkOut

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