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Aliases for PREPL Gene

Aliases for PREPL Gene

  • Prolyl Endopeptidase-Like 2 3
  • KIAA0436 4 6
  • Prolylendopeptidase-Like 4
  • EC 3.4.21.83 63
  • EC 3.4.21.- 4
  • EC 3.4.21 63

External Ids for PREPL Gene

Previous GeneCards Identifiers for PREPL Gene

  • GC02M044458
  • GC02U900799
  • GC02M044543

Summaries for PREPL Gene

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 hypotonia-cystinuria syndrome and 2p21 microdeletion syndrome without cystinuria. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PREP.

UniProtKB/Swiss-Prot for PREPL Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PREPL Gene

Genomics for PREPL Gene

Regulatory Elements for PREPL Gene

Genomic Location for PREPL Gene

Start:
44,316,281 bp from pter
End:
44,361,862 bp from pter
Size:
45,582 bases
Orientation:
Minus strand

Genomic View for PREPL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PREPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PREPL Gene

Proteins for PREPL Gene

  • Protein details for PREPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4J6C6-PPCEL_HUMAN
    Recommended name:
    Prolyl endopeptidase-like
    Protein Accession:
    Q4J6C6
    Secondary Accessions:
    • A7E2X6
    • D6W5A3
    • O43163
    • Q4J6C3
    • Q4J6C4
    • Q4ZG39
    • Q6ZMW7
    • Q96DW7

    Protein attributes for PREPL Gene

    Size:
    727 amino acids
    Molecular mass:
    83927 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAX88956.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA23709.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PREPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PREPL Gene

Proteomics data for PREPL Gene at MOPED

Post-translational modifications for PREPL Gene

  • Ubiquitination at Lys426 and Lys439
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for PREPL Gene

Suggested Antigen Peptide Sequences for PREPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4J6C6

UniProtKB/Swiss-Prot:

PPCEL_HUMAN :
  • Q4J6C6
Family:
  • Belongs to the peptidase S9A family.
genes like me logo Genes that share domains with PREPL: view

No data available for Gene Families for PREPL Gene

Function for PREPL Gene

Molecular function for PREPL Gene

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

Enzyme Numbers (IUBMB) for PREPL Gene

Gene Ontology (GO) - Molecular Function for PREPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008236 serine-type peptidase activity --
GO:0070008 serine-type exopeptidase activity IEA --
genes like me logo Genes that share ontologies with PREPL: view

Animal Model Products

miRNA for PREPL Gene

miRTarBase miRNAs that target PREPL

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PREPL

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for PREPL Gene

Localization for PREPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PREPL Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PREPL Gene COMPARTMENTS Subcellular localization image for PREPL gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PREPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PREPL: view

Pathways for PREPL Gene

SuperPathways for PREPL Gene

No Data Available

Gene Ontology (GO) - Biological Process for PREPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with PREPL: view

No data available for Pathways by source for PREPL Gene

Transcripts for PREPL Gene

mRNA/cDNA for PREPL Gene

Unigene Clusters for PREPL Gene

Prolyl endopeptidase-like:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PREPL

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PREPL Gene

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: - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - -
SP11: - - - - - - -
SP12: - - - - - - -
SP13: - - - - -
SP14: - - - - - - - -
SP15: - - - - - - - - -
SP16: - - -
SP17: - - - -
SP18: - - - - - - - -
SP19: - - - - - -
SP20: - -
SP21: -
SP22:

ExUns: 10a · 10b · 10c · 10d · 10e ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for PREPL Gene

GeneLoc Exon Structure for
PREPL
ECgene alternative splicing isoforms for
PREPL

Expression for PREPL Gene

mRNA expression in normal human tissues for PREPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for PREPL Gene

This gene is overexpressed in Frontal cortex (33.0), Fetal Brain (8.4), and Spinal cord (7.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PREPL Gene

SOURCE GeneReport for Unigene cluster for PREPL Gene Hs.444349

mRNA Expression by UniProt/SwissProt for PREPL Gene

Q4J6C6-PPCEL_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in brain, skeletal muscle, heart and kidney.
genes like me logo Genes that share expressions with PREPL: view

Expression partners for PREPL Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PREPL Gene

Orthologs for PREPL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PREPL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PREPL 35
  • 90.97 (n)
  • 92.96 (a)
PREPL 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PREPL 35
  • 93.96 (n)
  • 96.09 (a)
PREPL 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prepl 35
  • 86.53 (n)
  • 91.17 (a)
Prepl 16
Prepl 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PREPL 35
  • 99.68 (n)
  • 99.72 (a)
PREPL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prepl 35
  • 86.24 (n)
  • 93.72 (a)
oppossum
(Monodelphis domestica)
Mammalia PREPL 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PREPL 36
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves PREPL 35
  • 64.56 (n)
  • 52.53 (a)
PREPL 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PREPL 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prepl 35
  • 59.12 (n)
  • 49.32 (a)
zebrafish
(Danio rerio)
Actinopterygii prepl 35
  • 53.49 (n)
  • 45.27 (a)
prepl 36
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2528 36
  • 16 (a)
ManyToMany
CG5355 36
  • 17 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMA1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G69020 35
  • 44.58 (n)
  • 31.71 (a)
rice
(Oryza sativa)
Liliopsida Os09g0475700 35
  • 45.61 (n)
  • 31.67 (a)
Species with no ortholog for PREPL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PREPL Gene

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

Paralogs for PREPL Gene

Paralogs for PREPL Gene

genes like me logo Genes that share paralogs with PREPL: view

Variants for PREPL Gene

Sequence variations from dbSNP and Humsavar for PREPL Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs696594 -- 44,348,287(-) CAACT(A/G)TAGAT intron-variant
rs698763 -- 44,346,485(+) TTAAC(A/C/G)TTGTA intron-variant
rs698764 -- 44,346,519(+) GTAGG(C/T)ATTTC intron-variant
rs698765 -- 44,346,532(+) AGATT(G/T)TAAAT intron-variant
rs698766 -- 44,347,138(+) CCAGC(C/G)TGGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PREPL Gene

Variant ID Type Subtype PubMed ID
esv2751893 CNV Loss 17911159
nsv833936 CNV Loss 17160897
dgv4109n71 CNV Loss 21882294
nsv457196 CNV Gain 19166990
nsv521399 CNV Loss 19592680
nsv873986 CNV Gain 21882294
esv2538552 OTHER Inversion 19546169
nsv833947 CNV Gain 17160897

Relevant External Links for PREPL Gene

HapMap Linkage Disequilibrium report
PREPL
Human Gene Mutation Database (HGMD)
PREPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PREPL Gene

Disorders for PREPL Gene

UniProtKB/Swiss-Prot

PPCEL_HUMAN
  • 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. {ECO:0000269 PubMed:16385448}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PREPL Gene

genes like me logo Genes that share disorders with PREPL: view

No data available for OMIM , Novoseek inferred disease relationships , Genatlas and External Links for PREPL Gene

Publications for PREPL Gene

  1. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. (PMID: 16385448) Jaeken J. … Matthijs G. (Am. J. Hum. Genet. 2006) 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 3 4
  3. A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. (PMID: 11524703) Parvari R. … Hershkovitz E. (Am. J. Hum. Genet. 2001) 2 3
  4. The 2p21 deletion syndrome: characterization of the transcription content. (PMID: 15913950) Parvari R. … Hershkovitz E. (Genomics 2005) 3 4
  5. The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity. (PMID: 16143824) Szeltner Z. … Polgar L. (Cell. Mol. Life Sci. 2005) 3 4

Products for PREPL Gene

Sources for PREPL Gene

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