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PREPL Gene

protein-coding   GIFtS: 57
GCID: GC02M044543

Prolyl Endopeptidase-Like

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prolyl Endopeptidase-Like1 2     Prolylendopeptidase-like3
KIAA04363 5     EC 3.4.218
Putative Prolyl Oligopeptidase2     EC 3.4.21.838
EC 3.4.21.-3     

External Ids:    HGNC: 302281   Entrez Gene: 95812   Ensembl: ENSG000001380787   OMIM: 6095575   UniProtKB: Q4J6C63   

Export aliases for PREPL gene to outside databases

Previous GC identifers: GC02M044458 GC02U900799 GC02M044281


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PREPL Gene:
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)

GeneCards Summary for PREPL Gene:
PREPL (prolyl endopeptidase-like) is a protein-coding gene. Diseases associated with PREPL include 2p21 microdeletion syndrome without cystinuria, and hypotonia. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PREP.

UniProtKB/Swiss-Prot: PPCEL_HUMAN, Q4J6C6
Function: Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides
after a arginine or lysine residue

Gene Wiki entry for PREPL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PREPL gene promoter:
         Bach1   TBP   Pax-5   Bach2   AP-4   Nkx2-5   STAT5A   E4BP4   FOXO4   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PREPL promoter sequence
   Search Chromatin IP Primers for PREPL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PREPL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p22.1

PREPL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PREPL gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M044543:  view genomic region     (about GC identifiers)

Start:
44,543,420 bp from pter      End:
44,589,001 bp from pter
Size:
45,582 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PPCEL_HUMAN, Q4J6C6 (See protein sequence)
Recommended Name: Prolyl endopeptidase-like  
Size: 727 amino acids; 83927 Da
Subunit: Homodimer
Sequence caution: Sequence=AAX88956.1; Type=Erroneous gene model prediction; Sequence=BAA23709.1; Type=Erroneous
initiation;
Secondary accessions: A7E2X6 D6W5A3 O43163 Q4J6C3 Q4J6C4 Q4ZG39 Q6ZMW7 Q96DW7
Alternative splicing: 4 isoforms:  Q4J6C6-1   Q4J6C6-2   Q4J6C6-3   Q4J6C6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PREPL: NX_Q4J6C6

Explore proteomics data for PREPL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys426, Lys439
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PREPL (Q4J6C6) (see all 25)
     ACIKTLH  DVLNTMM  YCPYQNI  PNIILDIQ 


    See PREPL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001035844.1  NP_001035845.1  NP_001165074.1  NP_001165077.1  NP_001165084.1  NP_001165088.1  NP_006027.2  

    ENSEMBL proteins: 
     ENSP00000391456   ENSP00000409480   ENSP00000387095   ENSP00000387241   ENSP00000386543  
     ENSP00000390618   ENSP00000260648   ENSP00000386909   ENSP00000386509   ENSP00000367781  
     ENSP00000367772   ENSP00000395692   ENSP00000395034   ENSP00000439626  

    PREPL Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PREPL
    GenScript Custom Purified and Recombinant Proteins Services for PREPL
    Novus Biologicals PREPL Protein
    Novus Biologicals PREPL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PREPL

    PREPL Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PREPL
    Novus Biologicals PREPL Antibodies
    Abcam antibodies for PREPL
    Cloud-Clone Corp. Antibodies for PREPL
    ThermoFisher Antibody for PREPL
    LSBio Antibodies in human, mouse, rat for PREPL

    PREPL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PREPL
    Cloud-Clone Corp. CLIAs for PREPL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001375 Peptidase_S9
     IPR002470 Peptidase_S9A
     IPR023302 Pept_S9A_N

    Graphical View of Domain Structure for InterPro Entry Q4J6C6

    ProtoNet protein and cluster: Q4J6C6

    1 Blocks protein domain: IPB002470 Prolyl oligopeptidase serine protease (S9A) signature

    UniProtKB/Swiss-Prot: PPCEL_HUMAN, Q4J6C6
    Similarity: Belongs to the peptidase S9A family


    PREPL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPCEL_HUMAN, Q4J6C6
    Function: Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides
    after a arginine or lysine residue
    Enzyme regulation: Inhibited by PMSF and Prefabloc, as well as leupeptin at high concentrations. Partially
    inhibited by TPCK, a chymotrypsin inhibitor, and E64, a cysteine protease inhibitor. Not affected by
    4-amidinophenyl-methanesulfonyl fluoride (APMSF), pepstatin or EDTA

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.832 EC 3.4.21.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0008236serine-type peptidase activity ----
    GO:0070008serine-type exopeptidase activity IEA--
         
    PREPL for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Prepl (no phenotypes)

    PREPL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PREPL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PREPL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PREPL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PREPL

    miRNA
    Products:
        
    miRTarBase miRNAs that target PREPL:
    hsa-mir-21-5p (MIRT030991), hsa-mir-125a-5p (MIRT045698)

    Block miRNA regulation of human, mouse, rat PREPL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PREPL (see all 25):
    hsa-miR-3128 hsa-miR-3607-3p hsa-miR-16-2* hsa-miR-520d-5p hsa-miR-1271 hsa-miR-3133 hsa-miR-633 hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmidPREPL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PREPL
    Predesigned siRNA for gene silencing in human, mouse, rat PREPL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PREPL

    Clone
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    OriGene clones in human, mouse for PREPL (see all 35)
    OriGene ORF clones in mouse, rat for PREPL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): PREPL (NM_001042386)
    Sino Biological Human cDNA Clone for PREPL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PREPL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PREPL

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PREPL
    Browse ESI BIO Cell Lines and PureStem Progenitors for PREPL 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PREPL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PPCEL_HUMAN, Q4J6C6: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--

    PREPL for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PREPL
    Interactions:

        Search GeneGlobe Interaction Network for PREPL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for PREPL (Q4J6C62, 3 ENSP000002606484) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COILP384322, 3, ENSP000002403164MINT-2867087 I2D: score=3 STRING: ENSP00000240316
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    USP22Q9UPT93, ENSP000002614974I2D: score=2 STRING: ENSP00000261497
    NR4A1P227363I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----

    PREPL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PREPL (PPCEL)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PREPL gene (7 alternative transcripts): 
    NM_001042385.2  NM_001042386.2  NM_001171603.1  NM_001171606.1  NM_001171613.1  NM_001171617.1  NM_006036.4  

    Unigene Cluster for PREPL:

    Prolyl endopeptidase-like
    Hs.444349  [show with all ESTs]
    Unigene Representative Sequence: NM_006036
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425263 ENST00000426481(uc002ruf.3) ENST00000409411 ENST00000409957
    ENST00000409936 ENST00000444696 ENST00000260648 ENST00000409272 ENST00000410081
    ENST00000378520 ENST00000378511 ENST00000420756 ENST00000540817 ENST00000438314
    ENST00000477410 ENST00000541738(uc002rug.3 uc002ruh.3 uc010fax.3 uc002rui.4 uc002ruj.2 uc002ruk.2)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PREPL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PREPL (see all 25):
    hsa-miR-3128 hsa-miR-3607-3p hsa-miR-16-2* hsa-miR-520d-5p hsa-miR-1271 hsa-miR-3133 hsa-miR-633 hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmidPREPL 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PREPL
    Predesigned siRNA for gene silencing in human, mouse, rat PREPL
    Clone
    Products:
         
    OriGene clones in human, mouse for PREPL (see all 35)
    OriGene ORF clones in mouse, rat for PREPL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): PREPL (NM_001042386)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PREPL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PREPL
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PREPL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PREPL
      QuantiTect SYBR Green Assays in human, mouse, rat PREPL
      QuantiFast Probe-based Assays in human, mouse, rat PREPL

    Additional mRNA sequence: 

    AB007896.1 AK025649.1 AK131463.1 BC013193.1 BC151236.1 DQ023505.1 DQ023506.1 DQ023507.1 

    Selected DOTS entries (see all 29):

    DT.418708  DT.75163028  DT.97809448  DT.91752693  DT.100668408  DT.91752690  DT.202896  DT.120945792 
    DT.319926  DT.91752691  DT.95144708  DT.201503  DT.92354593  DT.97769739  DT.95074117  DT.120945907 
    DT.91752689  DT.95111192  DT.100672554  DT.100791499  DT.120945802  DT.120945817  DT.120945842  DT.91986382 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PREPL (see all 22)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e ^
    SP1:                                -     -     -     -     -     -                 -                                                                           
    SP2:                                                                                -                                                                           
    SP3:                                                                                -                                                                           
    SP4:                                                                                -                                                                           
    SP5:                                -     -     -     -     -     -     -     -                                                                                 

    ExUns: 10a · 10b · 10c · 10d · 10e ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c
    SP1:                                                                                -                     
    SP2:                                                                                -                     
    SP3:                                      -                                         -                     
    SP4:                                -                                               -                     
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for PREPL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PREPL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTTTGGTG
    PREPL Expression
    About this image


    PREPL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Adrenal Gland (Endocrine System)
     
     Kidney (Urinary System)
    PREPL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PREPL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444349

    UniProtKB/Swiss-Prot: PPCEL_HUMAN, Q4J6C6
    Tissue specificity: Widely expressed. Expressed at higher level in brain, skeletal muscle, heart and kidney

        Custom PCR Arrays for PREPL
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PREPL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PREPL
    QuantiTect SYBR Green Assays in human, mouse, rat PREPL
    QuantiFast Probe-based Assays in human, mouse, rat PREPL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PREPL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PREPL gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prepl1 , 5 prolyl endopeptidase-like1, 5 86.53(n)1
    91.17(a)1
      17 (55.19 cM)5
    2137601  NM_001163622.11  NP_001157094.11 
     850634775 
    chicken
    (Gallus gallus)
    Aves PREPL1 prolyl endopeptidase-like 64.56(n)
    52.53(a)
      421405  NM_001031053.1  NP_001026224.1 
    lizard
    (Anolis carolinensis)
    Reptilia PREPL6
    prolyl endopeptidase-like
    47(a)
    1 ↔ 1
    GL343231.1(2186895-2234419)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia prepl1 prolyl endopeptidase-like 59.12(n)
    49.32(a)
      100498250  XM_002932390.2  XP_002932436.2 
    zebrafish
    (Danio rerio)
    Actinopterygii prepl1 prolyl endopeptidase-like 53.49(n)
    45.27(a)
      796680  NM_001145616.1  NP_001139088.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG53556
    CG25286
    --
    17(a)
    16(a)
    many ↔ many
    many ↔ many
    2L(10410537-10413463)
    2L(21981572-21992933)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G690201 AT1G69020 44.58(n)
    31.71(a)
      843234  NM_105573.2  NP_177065.2 
    rice
    (Oryza sativa)
    Liliopsida Os09g04757001 Os09g0475700 45.61(n)
    31.67(a)
      4347361  NM_001069996.1  NP_001063461.1 


    ENSEMBL Gene Tree for PREPL (if available)
    TreeFam Gene Tree for PREPL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PREPL gene
    PREP2  

    PREPL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PREPL (see all 1058)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420982871,2
    C--44294047(+) GAGGT-/AAAACAG 7 -- int10--------
    rs2009737311,2
    C--44295747(+) TTTTC-/TTTTTTT 7 -- int10--------
    rs1115656321,2
    F--44306364(+) GAAAATAA/-TGAGA 14 -- int1 cds12Minor allele frequency- -:0.50CSA 6
    rs2012751451,2
    --44306364(+) AAATA-/ATGAGAT 7 -- int10--------
    rs743952081,2
    C,F--44417683(+) TCATAT/CGCCGT 14 /A syn14Minor allele frequency- C:0.01CSA WA NA EU 5993
    rs1138504561,2
    C,F--44417724(+) AATACA/GTGCAC 7 -- int13Minor allele frequency- G:0.00CSA WA EU 1441
    rs1840802791,2
    C--44417735(+) GAAGAA/GTTTAC 7 -- int10--------
    rs1996458621,2
    --44417756(+) ATGGTA/CCCTTG 7 -- int10--------
    rs1413970771,2
    --44417847(+) AGAGCA/GCCTCA 7 -- int10--------
    rs1872910311,2
    --44417936(+) GCATGA/GTAAGT 7 -- int10--------

    HapMap Linkage Disequilibrium report for PREPL (44543420 - 44589001 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PREPL:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4109n71CNV Loss21882294
    nsv521399CNV Loss19592680
    esv2751893CNV Loss17911159
    nsv833936CNV Loss17160897
    nsv457196CNV Gain19166990
    nsv873986CNV Gain21882294
    nsv833947CNV Gain17160897
    esv2538552OTHER Inversion19546169

    Human Gene Mutation Database (HGMD): PREPL
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PREPL
    DNA2.0 Custom Variant and Variant Library Synthesis for PREPL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609557    OMIM disorders: --

    UniProtKB/Swiss-Prot: PPCEL_HUMAN, Q4J6C6
  • Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth,
    nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia
    and rapid weight gain in late childhood. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 14 diseases for PREPL:    
    About MalaCards
    2p21 microdeletion syndrome without cystinuria    hypotonia    atypical hypotonia - cystinuria syndrome    2p21 microdeletion syndrome
    hypotonia-cystinuria syndrome    cystinuria    nephrolithiasis    growth hormone deficiency
    bladder carcinoma    pneumonia    ataxia    tuberculosis
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for PREPL:
    Cystinuria

    PREPL for disorders           About GeneDecksing


    Export disorders for PREPL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PREPL gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with PREPL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. (PubMed id 16385448)1, 2, 9 Jaeken J.... Matthijs G. (Am. J. Hum. Genet. 2006)
    2. The 2p21 deletion syndrome: characterization of the transcription content. (PubMed id 15913950)1, 2 Parvari R....Hershkovitz E. (Genomics 2005)
    3. The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity. (PubMed id 16143824)1, 2 Szeltner Z.... Polgar L. (Cell. Mol. Life Sci. 2005)
    4. A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. (PubMed id 11524703)1, 3 Parvari R....Hershkovitz E. (Am. J. Hum. Genet. 2001)
    5. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2 Ishikawa K.... Ohara O. (DNA Res. 1997)
    6. Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. (PubMed id 23794250)1 Bartholdi D....Rauch A. (Am. J. Med. Genet. A 2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Two novel deletions in hypotonia-cystinuria syndrome. (PubMed id 22796000)1 RAcgal L....Creemers J. (Mol. Genet. Metab. 2012)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9581 HGNC: 30228 Ensembl:ENSG00000138078 euGenes: HUgn9581 ECgene: PREPL
    H-InvDB: PREPL

    (According to HUGE)
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    HUGE: KIAA0436

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PREPL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PREPL gene:
    Search GeneIP for patents involving PREPL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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