Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PREPL Gene

protein-coding GIFtS: 55
GCID: GC02M044543

prolyl endopeptidase-like

Explore 11 diseases affiliated with
PREPL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Prolyl Endopeptidase-Like¹ ²		Prolylendopeptidase-Like¹
KIAA0436¹ ³ 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PREPL:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for PREPL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PPCEL_HUMAN, Q4J6C6 (See protein sequence)

Recommended Name: Prolyl endopeptidase-like

Size: 727 amino acids; 83927 Da

Subunit: Homodimer

Subcellular location: Cytoplasm, cytosol

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q4J6C6

4/25 DME Specific Peptides for PREPL (Q4J6C6) (see all 25)

ACIKTLH

DVLNTMM

YCPYQNI

PNIILDIQ

PREPL Protein expression data from MOPED and PaxDb: About this image

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

Human Recombinant Protein Products for PREPL:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates 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 ProSpec Recombinant Proteins
	Uscn Proteins for PREPL

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	IEA	--

PREPL for ontologies About GeneDecksing

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
	GenScript Custom Superior Antibodies Services for PREPL
	Novus Biologicals PREPL Antibodies
	Abcam antibodies for PREPL
	Uscn Antibodies for PREPL
	ThermoFisher Antibody for PREPL

Assay Products for PREPL:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PREPL
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PREPL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PREPL for domains About GeneDecksing

3 InterPro domains/families:

IPR001375 Peptidase_S9

IPR004106 Peptidase_S9A_B_C_N

IPR002470 Peptidase_S9A

Graphical View of Domain Structure for InterPro Entry Q4J6C6

ProtoNet protein and cluster: Q4J6C6

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

UniProtKB/Swiss-Prot: PPCEL_HUMAN, Q4J6C6

Similarity: Belongs to the peptidase S9A family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase 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 - Customizable classic, inducible, and humanized mouse model solutions for PREPL

miRNA Products:		OriGene 3'-UTR Clone (see all 3): PREPL Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PREPL
		8/25 QIAGEN miScript miRNA 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 plasmid: PREPL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PREPL (see all 7) OriGene shRNA RFP: PREPL OriGene siRNA: PREPL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PREPL
		Sirion Biotech Custom design and validation of potent shRNA sequences against PREPL

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PREPL
			Sirion Biotech Customized adenovirus for overexpression of PREPL Sirion Biotech Customized adenovirus for potent knockdown of PREPL

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PREPL (see all 12) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PREPL (see all 7) 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)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PREPL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PREPL

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PREPL
		Search LifeMap BioReagents cell lines for PREPL
		Sirion Biotech Customized stable knockdown cell line services for PREPL Sirion Biotech Customized inducible knockdown cell line services for PREPL Sirion Biotech Customized stable overexpressing cell line services for PREPL Sirion Biotech Customized inducible overexpressing cell line services for PREPL

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PREPL

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PREPL

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

5/6 Interacting proteins for PREPL (Q4J6C6^{2, 3} ENSP00000260648⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COIL	P38432²^,³, ENSP00000240316⁴	MINT-2867087 I2D: score=3 STRING: ENSP00000240316
ESR2	Q92731³, ENSP00000343925⁴	I2D: score=1 STRING: ENSP00000343925
USP22	Q9UPT9³, ENSP00000261497⁴	I2D: score=2 STRING: ENSP00000261497
NR4A1	P22736³	I2D: score=1
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--

PREPL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PREPL
Search CenterWatch for drugs/clinical trials and news about PREPL / PPCEL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): PREPL Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PREPL
		8/25 QIAGEN miScript miRNA 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 plasmid: PREPL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PREPL (see all 7) OriGene shRNA RFP: PREPL OriGene siRNA: PREPL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PREPL
		Sirion Biotech Custom design and validation of potent shRNA sequences against PREPL

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PREPL (see all 12) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PREPL (see all 7) 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 genome-wide validated SYBR primer pairs in human, mouse, rat for PREPL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PREPL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PREPL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PREPL

Additional cDNA sequence:

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

24/27 DOTS entries (see all 27):

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.100791499 DT.120945802 DT.120945817 DT.120945842 DT.91986382 DT.97812984 DT.100672554

GeneLoc Exon Structure

5/22 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PREPL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTTTTGGTG

About this image

PREPL expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Eye

Retina

Eye

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PREPL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PREPL

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

SABiosciences Custom PCR Arrays for PREPL

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PREPL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PREPL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PREPL
		QIAGEN 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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for PREPL gene from 6/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PREPL¹	prolyl endopeptidase-like	63.3(n) 51.45(a)		421405 NM_001031053.1 NP_001026224.1
lizard (Anolis carolinensis)	Reptilia	PREPL⁶	--	50(a)	1 ↔ 1	GL343231.1(2190195-2218849)
zebrafish (Danio rerio)	Actinopterygii	prepl¹	prolyl endopeptidase-like	53.47(n) 45.35(a)		796680 NM_001145616.1 NP_001139088.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G69020¹	prolyl oligopeptidase-like protein	45.47(n) 32.67(a)		843234 NM_105573.2 NP_177065.2
rice (Oryza sativa)	Liliopsida	Os09g0475700¹	hypothetical protein	45.74(n) 31.76(a)		4347361 NM_001069996.1 NP_001063461.1
E. coli (Escherichia coli)	Gamma proteobacteria	ptrB⁶	protease II	22(a)	1 ↔ 1	Chromosome(1924803-1926863)

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)
About This Section

Paralogs for PREPL gene

PREP²

PREPL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12474294^1,2	C,F,A,H	--	44287332(+)	`TGTAGA/CTTCCT`	7	--	int¹		17	NS EA NA CSA WA	2100
rs72804911^1,2	C	--	44287353(+)	`ATACTC/AAGTCC`	7	--	int¹		1	NA	120
rs78532351^1,2	C,F	--	44288265(+)	`TTGACC/GAGTTG`	7	--	int¹		1	WA	118
rs75848609^1,2		--	44288282(+)	`TTATAT/ATAAAA`	7	--	int¹		1	NA	120
rs76270585^1,2	C,F	--	44289137(+)	`GCACTG/AGCAGT`	7	--	int¹		1	WA	118
rs79974372^1,2	C	--	44289228(+)	`ACACTG/AGTCTG`	7	--	int¹		2	CSA WA	120
rs75894340^1,2	C,F	--	44289789(+)	`TGGACT/CATCTA`	7	--	int¹		1	WA	118
rs112644561^1,2		--	44289938(+)	`CTTCAG/CTGCTT`	7	--	int¹		2	CSA WA	120
rs9678061^1,2	C,F,A,H	--	44290058(+)	`AATAAC/GGGTTA`	7	--	int¹		12	NS EA NA WA CSA	800
rs17426225^1,2	C,F,H	--	44290144(+)	`ACTCCT/CATGCT`	7	--	int¹		8	NA NS EA	678

HapMap Linkage Disequilibrium report for PREPL (44543420 - 44589001 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for PREPL
2 CNVs: 4283 8943
1 Inversion: 103345
Human Gene Mutation Database (HGMD): PREPL

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PREPL for disorders About GeneDecksing

OMIM gene information: 609557 OMIM disorders: --

UniProtKB/Swiss-Prot: PPCEL_HUMAN, Q4J6C6

Defects in PREPL are a cause of hypotonia-cystinuria syndrome (HCS) [MIM:606407]. HCS is 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. HCS is caused by a deletion that disrups both

SLC3A1 and PREPL genes. As SLC3A1 is known to cause isolated cystinuria type I, the extended phenotype could be

attributed to the deletion of PREPL

11 diseases for PREPL: About MalaCards

hypotonia-cystinuria syndrome cystinuria hypotonia growth hormone deficiency

nephrolithiasis bladder carcinoma ataxia pneumonia

tuberculosis carcinoma mycobacterium tuberculosis

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

Cystinuria

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)
About This Section

PubMed articles for PREPL gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with PREPL)

Utopia: connect your pdf to the dynamic
world of online information

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. (2006)
The 2p21 deletion syndrome: characterization of the transcription content. (PubMed id 15913950)^{1, 2} Parvari R....Hershkovitz E. (2005)
The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity. (PubMed id 16143824)^{1, 2} Szeltner Z.... Polgar L. (2005)
A recessive contiguous gene deletion of chromosome 2p 16 associated with cystinuria and a mitochondrial disease. (PubMed id 11524703)^{1, 3} Parvari R....Hershkovitz E. (2001)
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. (1997)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)¹ Sowa M.E....Harper J.W. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 9581	HGNC: 30228	Ensembl:ENSG00000138078	euGenes: HUgn9581	ECgene: PREPL
H-InvDB: PREPL

(According to HUGE)
About This Section

HUGE: KIAA0436

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PREPL	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PREPL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for PREPL
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PREPL		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PREPL
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for PREPL		OriGene 3'-UTR Clone for PREPL
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PREPL		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PREPL
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for PREPL		OriGene Custom Protein Services for PREPL
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PREPL
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PREPL
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PREPL
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PREPL
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PREPL
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PREPL

	GenScript Custom Purified and Recombinant Proteins Services for PREPL		GenScript cDNA clones with any tag delivered in your preferred vector for PREPL
	GenScript Custom Assay Services for PREPL		GenScript Custom Superior Antibodies Services for PREPL
	GenScript Custom overexpressing Cell Line Services for PREPL		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in PREPL promoter
	Search Chromatin IP Primers for PREPL
	RT² qPCR Primer Assay in human, mouse, rat PREPL
	Search GNC Networks for PREPL
	SABiosciences Custom PCR Arrays for PREPL

Search Tocris compounds for PREPL

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	PREPL antibodies
	PREPL proteins
	PREPL lysates

	Antibodies for PREPL
	See all of Abcam's Antibodies, Kits and Proteins for PREPL
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

PREPL Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for PREPL

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PREPL

	SwitchGear 3'UTR luciferase reporter plasmids for PREPL
	SwitchGear Promoter luciferase reporter plasmids for PREPL

ThermoFisher Antibody for PREPL

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PREPL

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PREPL

Sirion Biotech Customized:

	stable knockdown cell line services for PREPL
	inducible knockdown cell line services for PREPL
	design and validation of potent shRNA sequences against PREPL
	adenovirus for potent knockdown of PREPL
	adenovirus for overexpression of PREPL
	stable overexpressing cell line services for PREPL
	inducible overexpressing cell line services for PREPL

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes PREPL gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

PREPL Gene

prolyl endopeptidase-like

Aliases
for PREPL gene

Summaries
for PREPL gene

Genomic Views
for PREPL gene

Proteins
for PREPL gene

Protein Domains /
Families
for PREPL gene

Function
for PREPL gene

Pathways & Interactions
for PREPL gene

Drugs & Compounds
for PREPL gene

Transcripts
for PREPL gene

Expression
for PREPL gene

Orthologs
for PREPL gene

Paralogs
for PREPL gene

Genomic Variants
for PREPL gene

Disorders / Diseases
for PREPL gene

Publications
for PREPL gene

External Searches for PREPL gene

Genome Databases showing PREPL gene

Other Databases showing PREPL gene

Specialized Databases showing PREPL gene

Intellectual Property
for PREPL gene

Products
for PREPL gene

View Random Gene

Advanced Search

Export list of displayed genes

PREPL Gene

prolyl endopeptidase-like

Aliasesfor PREPL gene

Summariesfor PREPL gene

Genomic Viewsfor PREPL gene

Proteinsfor PREPL gene

Protein Domains /Familiesfor PREPL gene

Functionfor PREPL gene

Pathways & Interactionsfor PREPL gene

Drugs & Compoundsfor PREPL gene

Transcriptsfor PREPL gene

Expression for PREPL gene

Orthologsfor PREPL gene

Paralogsfor PREPL gene

Genomic Variantsfor PREPL gene

Disorders / Diseasesfor PREPL gene

Publicationsfor PREPL gene

External Searches for PREPL gene

Genome Databases showing PREPL gene

Other Databases showing PREPL gene

Specialized Databases showing PREPL gene

Intellectual Propertyfor PREPL gene

Productsfor PREPL gene

View Random Gene

Aliases
for PREPL gene

Summaries
for PREPL gene

Genomic Views
for PREPL gene

Proteins
for PREPL gene

Protein Domains /
Families
for PREPL gene

Function
for PREPL gene

Pathways & Interactions
for PREPL gene

Drugs & Compounds
for PREPL gene

Transcripts
for PREPL gene

Expression
for PREPL gene

Orthologs
for PREPL gene

Paralogs
for PREPL gene

Genomic Variants
for PREPL gene

Disorders / Diseases
for PREPL gene

Publications
for PREPL gene

Intellectual Property
for PREPL gene

Products
for PREPL gene