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 ... See more...

Aliases for PREPL Gene

Aliases for PREPL Gene

  • Prolyl Endopeptidase Like 2 3 5
  • Prolyl Endopeptidase-Like 2 3 4
  • Putative Prolyl Oligopeptidase 3
  • Prolylendopeptidase-Like 4
  • EC 3.4.21.83 52
  • EC 3.4.21.- 4
  • EC 3.4.21 52
  • KIAA0436 4
  • CMS22 3

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 Myasthenic Syndrome, Congenital, 22 and Premature Ovarian Failure 1. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type exopeptidase activity. An important paralog of this gene is PREP.

UniProtKB/Swiss-Prot Summary for PREPL Gene

  • Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330).

Gene Wiki entry for PREPL Gene

Additional gene information for PREPL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PREPL Gene

Genomics for PREPL Gene

GeneHancer (GH) Regulatory Elements for PREPL Gene

Promoters and enhancers for PREPL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J044360 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 505 +0.1 61 3.6 EP300 ZBTB40 ZNF217 SIN3A MYC NRF1 POLR2G NCOR1 PHF8 SIX5 PREPL CAMKMT NONHSAG027625.2 lnc-LRPPRC-4 MF281430-048
GH02J044275 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 6 +84.5 84549 4.5 TCF12 NR3C1 FOSL2 ATF3 JUND HNF4A ZSCAN29 TCF7L2 FOXA1 SP1 SLC3A1 PREPL KR153278 ENSG00000285542
GH02J044296 Enhancer 0.4 Ensembl 10.9 +65.4 65362 1 CTCF SMC3 KLF1 RAD21 YY1 CAMKMT PREPL KR153278 SLC3A1 ENSG00000285542
GH02J044479 Enhancer 1 Ensembl ENCODE 4.3 -117.9 -117938 1.2 RXRA EP300 CTCF TEAD4 REST ZBTB25 RAD21 MYC TRIM22 TEAD1 PREPL piR-57460-378 piR-56341-103 NONHSAG027625.2 CAMKMT
GH02J044434 Enhancer 0.8 Ensembl dbSUPER 4.7 -71.7 -71739 4.4 TCF12 CTBP1 FOXA2 FOSL2 FOXP1 FOXA1 DPF2 PRDM6 RFX5 GATA3 CAMKMT PREPL piR-56341-103 piR-57460-378 NONHSAG027625.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PREPL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PREPL

Top Transcription factor binding sites by QIAGEN in the PREPL gene promoter:
  • AP-4
  • Bach1
  • Bach2
  • E4BP4
  • FOXO4
  • Nkx2-5
  • Pax-5
  • STAT5A
  • TBP
  • Zic3

Genomic Locations for PREPL Gene

Genomic Locations for PREPL Gene
chr2:44,316,281-44,361,862
(GRCh38/hg38)
Size:
45,582 bases
Orientation:
Minus strand
chr2:44,543,420-44,589,001
(GRCh37/hg19)
Size:
45,582 bases
Orientation:
Minus strand

Genomic View for PREPL Gene

Genes around PREPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PREPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:16143824). Interacts with the AP-1 complex (PubMed:23321636).
    SequenceCaution:
    • Sequence=AAX88956.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA23709.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PREPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PREPL Gene

Selected DME Specific Peptides for PREPL Gene

Q4J6C6:
  • PNIILDIQ
  • ACIKTLH
  • HVRGGGELG
  • KFLYEELGLDST
  • YTEKLKEA
  • LIQKRIHG
  • YCPYQNI
  • MEASFPNVSSFEWVKDEEDEDVLFYTFQRNLRCHDVYRA
  • QPFIDCIRVAPDEKYVAAKIR
  • LTKCLQNKPKISELARNIPSRSFS
  • LAYCHVRGGGELG
  • MDAFEKVRT
  • EAKSKDGKLVPMTVFHKTDSEDLQ
  • KTTSEVWLID
  • LDIQPGGNHVIEDSHKKIT
  • KHGGFVYYQEGCCLVRSKDEEAD
  • LKKYHLTKCLQNKP
  • DNYEVLFNLEELKL
  • LETQPQEEYE
  • PAIMNWDLFFTMKRNTKV
  • QGFSQPSLTTL
  • ALKYSIPHLGKCM
  • LYYVEHRDDELYILTNVGEPTEFKLMRTAAD
  • AFSAGGVL
  • DVLNTMM

Post-translational modifications for PREPL Gene

  • Ubiquitination at Lys426 and Lys439
  • Modification sites at PhosphoSitePlus

Domains & Families for PREPL Gene

Gene Families for PREPL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PREPL Gene

Blocks:
  • Prolyl oligopeptidase serine protease (S9A) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PREPL Gene

GenScript: Design optimal peptide antigens:
  • Prolylendopeptidase-like (PPCEL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4J6C6

UniProtKB/Swiss-Prot:

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

Function for PREPL Gene

Molecular function for PREPL Gene

UniProtKB/Swiss-Prot Function:
Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by PMSF and Prefabloc, as well as leupeptin at high concentrations (PubMed:16385448). Partially inhibited by TPCK, a chymotrypsin inhibitor and E64, a cysteine protease inhibitor (PubMed:16385448). Not affected by 4-amidinophenyl-methanesulfonyl fluoride (APMSF), pepstatin or EDTA (PubMed:16385448). Inhibited by 1-isobutyl-3-oxo-3,5,6,7-tetrahydro-2H-cyclopenta[c]pyridine-4-carbonitrile (PubMed:28726805).

Enzyme Numbers (IUBMB) for PREPL Gene

Phenotypes From GWAS Catalog 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:0008233 peptidase activity ISS --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0070008 serine-type exopeptidase activity IEA --
genes like me logo Genes that share ontologies with PREPL: view
genes like me logo Genes that share phenotypes with PREPL: view

Human Phenotype Ontology for PREPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PREPL Gene

MGI Knock Outs for PREPL:

Animal Model Products

  • Taconic Biosciences Mouse Models for PREPL

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PREPL

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PREPL Gene

Localization for PREPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PREPL Gene

Cytoplasm, cytosol. Golgi apparatus, trans-Golgi network. Cytoplasm, cytoskeleton. Golgi apparatus. Nucleus. Note=Co-localizes with AP-1 in the trans-Golgi network (By similarity). Co-localizes with MAP2 and ACTB on the cytoskeleton (By similarity). Co-localizes with STX6 and GOSR2 at the Golgi apparatus (By similarity). {ECO:0000250 UniProtKB:Q8C167}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PREPL gene
Compartment Confidence
nucleus 4
cytosol 4
cytoskeleton 3
golgi apparatus 3
mitochondrion 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for PREPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IBA 21873635
GO:0005802 colocalizes_with trans-Golgi network ISS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PREPL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PREPL Gene

Pathways & Interactions for PREPL Gene

PathCards logo

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 --
GO:0042147 retrograde transport, endosome to Golgi ISS --
GO:0043001 Golgi to plasma membrane protein transport ISS --
GO:2000300 regulation of synaptic vesicle exocytosis IMP 24610330
genes like me logo Genes that share ontologies with PREPL: view

No data available for Pathways by source and SIGNOR curated interactions for PREPL Gene

Drugs & Compounds for PREPL Gene

No Compound Related Data Available

Transcripts for PREPL Gene

mRNA/cDNA for PREPL Gene

10 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PREPL

Clone 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

Expression for PREPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PREPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PREPL Gene



Protein tissue co-expression partners for PREPL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PREPL

SOURCE GeneReport for Unigene cluster for PREPL Gene:

Hs.444349

mRNA Expression by UniProt/SwissProt for PREPL Gene:

Q4J6C6-PPCEL_HUMAN
Tissue specificity: Expressed in pyramidal neurons of the temporal cortex and neocortex (at protein level) (PubMed:23485813). Widely expressed (PubMed:15913950, PubMed:16385448). Expressed at higher level in brain, skeletal muscle, heart and kidney (PubMed:15913950, PubMed:16385448). Expressed at the endplates in the neuromuscular junction (PubMed:24610330).

Evidence on tissue expression from TISSUES for PREPL Gene

  • Nervous system(5)
  • Bone(4)
  • Kidney(2.5)
  • Skin(2.5)
  • Muscle(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PREPL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PREPL: view

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
chimpanzee
(Pan troglodytes)
Mammalia PREPL 31 30
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PREPL 31 30
  • 93.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PREPL 31 30
  • 90.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prepl 17 31 30
  • 86.53 (n)
rat
(Rattus norvegicus)
Mammalia Prepl 30
  • 86.24 (n)
oppossum
(Monodelphis domestica)
Mammalia PREPL 31
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PREPL 31
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves PREPL 31 30
  • 64.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PREPL 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prepl 30
  • 59.12 (n)
zebrafish
(Danio rerio)
Actinopterygii prepl 31 30
  • 53.49 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5355 31
  • 17 (a)
ManyToMany
CG2528 31
  • 16 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMA1 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G69020 30
  • 44.58 (n)
rice
(Oryza sativa)
Liliopsida Os09g0475700 30
  • 45.61 (n)
Species where no ortholog for PREPL was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PREPL: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PREPL Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
562305 Likely Pathogenic: not provided 44,320,282(-) G/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
566429 Uncertain Significance: Myasthenic syndrome, congenital, 22 44,339,287(-) C/T MISSENSE_VARIANT
566760 Uncertain Significance: Myasthenic syndrome, congenital, 22 44,323,281(-) T/C MISSENSE_VARIANT
567457 Uncertain Significance: Myasthenic syndrome, congenital, 22 44,329,121(-) G/C INTRON_VARIANT
569764 Pathogenic: Myasthenic syndrome, congenital, 22 44,338,350(-) C/T SPLICE_DONOR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PREPL Gene

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

Variant ID Type Subtype PubMed ID
dgv3798n100 CNV loss 25217958
dgv3799n100 CNV loss 25217958
dgv6837n54 CNV loss 21841781
dgv6838n54 CNV loss 21841781
esv2538552 OTHER inversion 19546169
esv2762539 CNV loss 21179565
esv3575237 CNV gain 25503493
esv3590555 CNV gain 21293372
esv3892026 CNV loss 25118596
nsv1006405 CNV loss 25217958
nsv1011655 CNV loss 25217958
nsv457196 CNV gain 19166990
nsv521399 CNV loss 19592680
nsv581691 CNV gain 21841781
nsv581692 CNV loss 21841781
nsv581695 CNV gain 21841781
nsv581698 CNV loss 21841781
nsv833947 CNV gain 17160897

Variation tolerance for PREPL Gene

Residual Variation Intolerance Score: 22.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.59; 56.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PREPL Gene

Human Gene Mutation Database (HGMD)
PREPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PREPL

SNP Genotyping and Copy Number Assay Products

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

Disorders for PREPL Gene

MalaCards: The human disease database

(10) MalaCards diseases for PREPL Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 22
  • cms22
premature ovarian failure 1
  • pof1
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
cystinuria
  • csnu
2p21 microdeletion syndrome without cystinuria
  • del(2)(p21) without cystinuria
- elite association - COSMIC cancer census association via MalaCards
Search PREPL in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:21686663, ECO:0000269 PubMed:23321636, ECO:0000269 PubMed:23485813, ECO:0000269 PubMed:28726805}. Note=The gene represented in this entry is involved in disease pathogenesis. Hypotonia-cystinuria syndrome is a contiguous gene syndrome caused by a homozygous deletion on chromosome 2p21 that disrupts the gene represented in this entry and SLC3A1 (PubMed:16385448, PubMed:21686663). A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, SLC3A1 and CAMKMT, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate mental retardation and respiratory chain complex IV deficiency (PubMed:21686663). Patient cells exhibit a larger trans-Golgi network and a reduced redistribution of AP-1 complex, which causes impairment in AP-1 mediated membrane-cytoplasm recycling and secretion (PubMed:23321636). {ECO:0000269 PubMed:16385448, ECO:0000269 PubMed:21686663, ECO:0000269 PubMed:23321636}.
  • Myasthenic syndrome, congenital, 22 (CMS22) [MIM:616224]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia. {ECO:0000269 PubMed:24610330, ECO:0000269 PubMed:29483676}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PREPL

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

No data available for Genatlas for PREPL Gene

Publications for PREPL Gene

  1. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. (PMID: 24610330) Régal L … Engel AG (Neurology 2014) 2 3 4 54
  2. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. (PMID: 16385448) Jaeken J … Matthijs G (American journal of human genetics 2006) 3 4 23 54
  3. PREPL deficiency: delineation of the phenotype and development of a functional blood assay. (PMID: 28726805) Régal L … Creemers JWM (Genetics in medicine : official journal of the American College of Medical Genetics 2018) 3 4 54
  4. The second point mutation in PREPL: a case report and literature review. (PMID: 29483676) Silva S … Matsumoto N (Journal of human genetics 2018) 3 4 54
  5. The 2p21 deletion syndrome: characterization of the transcription content. (PMID: 15913950) Parvari R … Hershkovitz E (Genomics 2005) 3 4 54

Products for PREPL Gene

Sources for PREPL Gene