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PEPD Gene

protein-coding GIFtS: 62
GCID: GC19M033877

Peptidase D

See PEPD-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Peptidase D¹ ² ³		imidodipeptidase²
Proline Dipeptidase² ³		Xaa-Pro Dipeptidase²
X-Pro Dipeptidase² ³		EC 3.4.13.9³
prolidase¹		Imidodipeptidase³
PROLIDASE²		PRD³
Aminoacyl-L-Proline Hydrolase²		Prolidase³

External Ids:	HGNC: 8840¹	Entrez Gene: 5184²	Ensembl: ENSG00000124299⁷	OMIM: 613230⁵	UniProtKB: P12955³

Export aliases for PEPD gene to outside databases

Previous GC identifers: GC19M034495 GC19M034326 GC19M038553 GC19M038569 GC19M030378

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PEPD Gene:

This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or

tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the

recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in

prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing

proline. Multiple transcript variants encoding different isoforms have been found for this gene.(provided by

RefSeq, Oct 2009)

GeneCards Summary for PEPD Gene:

PEPD (peptidase D) is a protein-coding gene. Diseases associated with PEPD include prolidase deficiency, and legg-calve-perthes disease. GO annotations related to this gene include metallocarboxypeptidase activity and manganese ion binding.

UniProtKB/Swiss-Prot: PEPD_HUMAN, P12955

Function: Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important

role in collagen metabolism because the high level of iminoacids in collagen

Gene Wiki entry for PEPD 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)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000019.9 NC_018930.2 NT_011109.17

Regulatory elements:

Regulatory transcription factor binding sites in the PEPD gene promoter:
PPAR-gamma1 IRF-7A RelA Nkx2-5 PPAR-gamma2 HNF-3beta NF-kappaB NF-kappaB1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for PEPD

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PEPD

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

Entrez Gene cytogenetic band: 19q13.11 Ensembl cytogenetic band: 19q13.11 HGNC cytogenetic band: 19q13.11

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

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M033877: view genomic region (about GC identifiers)

Start:	33,877,855 bp from pter	End:	34,012,799 bp from pter
Size:	134,945 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: PEPD_HUMAN, P12955 (See protein sequence)

Recommended Name: Xaa-Pro dipeptidase

Size: 493 amino acids; 54548 Da

Cofactor: Binds 2 manganese ions per subunit

Subunit: Homodimer

Mass spectrometry: Mass=54251.73; Method=MALDI; Range=2-493; Source=PubMed:11840567;

2 PDB 3D structures from and Proteopedia for PEPD:

2IW2 (3D)

2OKN (3D)

Secondary accessions: A8K3Z1 A8K416 A8K696 A8MX47 B4DDB7 B4DGJ1 E9PCE8 Q8TBN9 Q9BT75

Alternative splicing: 3 isoforms: P12955-1 P12955-2 P12955-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PEPD: NX_P12955

Explore proteomics data for PEPD at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

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

REFSEQ proteins (3 alternative transcripts):

NP_000276.2 NP_001159528.1 NP_001159529.1

ENSEMBL proteins:

ENSP00000244137 ENSP00000380226 ENSP00000391890 ENSP00000468516 ENSP00000476514

ENSP00000476667 ENSP00000476869

PEPD Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for PEPD
	Search eBioscience for Proteins for PEPD
	antibodies-online proteins for PEPD (6 products)
	antibodies-online peptides for PEPD

PEPD Antibody Products:

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	antibodies-online antibodies for PEPD (32 products)

PEPD Assay Products:

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	antibodies-online kits for PEPD (8 products)

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

3 InterPro protein domains:

IPR007865 Aminopep_P_N

IPR000994 Pept_M24_structural-domain

IPR001131 Peptidase_M24B_aminopep-P_CS

Graphical View of Domain Structure for InterPro Entry P12955

ProtoNet protein and cluster: P12955

1 Blocks protein domain: IPB007865 Aminopeptidase P

UniProtKB/Swiss-Prot: PEPD_HUMAN, P12955

Similarity: Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily

Find genes that share domains with PEPD About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PEPD_HUMAN, P12955

Function: Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important

role in collagen metabolism because the high level of iminoacids in collagen

Catalytic activity: Hydrolysis of Xaa- -Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action

on Pro- -Pro

Genatlas biochemistry entry for PEPD:

peptidase D

Enzyme Number (IUBMB): EC 3.4.13.9¹

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004177	aminopeptidase activity	IEA	--
GO:0004181	metallocarboxypeptidase activity	TAS	1972707
GO:0008233	peptidase activity	--	--
GO:0016805	dipeptidase activity	IEA	--
GO:0030145	manganese ion binding	IEA	--

Find genes that share ontologies with PEPD About GenesLikeMe

Phenotypes:
3 GenomeRNAi human phenotypes for PEPD:

Decreased influenza A/WSN/33 r

Increased cell number in G2M,

Increased gamma-H2AX phosphory

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for PEPD

miRNA Products:		miRTarBase miRNAs that target PEPD: hsa-mir-423-3p (MIRT042567)

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Gene Editing
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DNA2.0 Custom Protein Engineering Service for PEPD

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEPD

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	2
extracellular	2
nucleus	2
endoplasmic reticulum	1
mitochondrion	1
peroxisome	1

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0070062	extracellular vesicular exosome	IDA	19056867

Find genes that share ontologies with PEPD About GenesLikeMe

(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).
About This Section

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for PEPD
Interactions:

GeneGlobe Interaction Network for PEPD

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PEPD (P12955^{2, 3} ENSP00000244137⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 82)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4B	P62805³, ENSP00000366581⁴	I2D: score=4 STRING: ENSP00000366581
HIST1H4C	P62805³, ENSP00000367034⁴	I2D: score=4 STRING: ENSP00000367034
HIST1H4D	P62805³, ENSP00000343282⁴	I2D: score=4 STRING: ENSP00000343282
HIST1H4E	P62805³, ENSP00000353624⁴	I2D: score=4 STRING: ENSP00000353624
HIST1H4H	P62805³, ENSP00000289352⁴	I2D: score=4 STRING: ENSP00000289352

About this table

Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	TAS	1972707
GO:0006520	cellular amino acid metabolic process	TAS	1972707
GO:0030574	collagen catabolic process	IEA	--

Find genes that share ontologies with PEPD About GenesLikeMe

(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)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PEPD

2 HMDB Compounds for PEPD About this table

Compound	Synonyms	CAS #	PubMed Ids
Glycylproline	1-(Aminoacetyl)proline (see all 6)	704-15-4	16642978
Manganese	manganese	7439-96-5	--

Selected Novoseek inferred chemical compound relationships for PEPD gene (see all 38) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycylproline	93.2	14	15530480 (2), 9972056 (1), 10582130 (1), 1536787 (1) (see all 7)
proline	85.7	151	15696600 (5), 11820612 (4), 1437403 (3), 9581474 (3) (see all 70)
acetylproline	85.4	2	2246246 (1), 1545347 (1)
pepq	81.2	3	12859771 (1), 8633861 (1), 10075426 (1)
anthraquinone-2-carboxylic acid	79.7	3	9972056 (3)
hydroxyproline	76.4	33	8031960 (2), 9112701 (1), 17999410 (1), 18806117 (1) (see all 24)
melphalan	52.8	31	14572862 (4), 10697434 (3), 17377743 (3), 15804176 (3) (see all 8)
chlorambucil	50.1	9	9581474 (3), 11338665 (3), 15178351 (1)
tripeptide s	48.1	1	9879669 (1)
6-phosphogluconate	36.7	1	7810807 (1)

Find genes that share compounds with PEPD About GenesLikeMe

(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for PEPD gene (3 alternative transcripts):

NM_000285.3 NM_001166056.1 NM_001166057.1

Unigene Cluster for PEPD:

Peptidase D

Hs.36473 [show with all ESTs]

Unigene Representative Sequence: NM_000285

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000593085 ENST00000244137(uc002nur.4) ENST00000589598 ENST00000591968

ENST00000397032(uc010xrr.2) ENST00000436370(uc002nuq.4 uc010xrs.2)

ENST00000588328 ENST00000590731 ENST00000609145 ENST00000593163 ENST00000588719

ENST00000590755 ENST00000590408

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		Predesigned siRNA for gene silencing in human, mouse, rat PEPD

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		GenScript: all cDNA clones in your preferred vector (see all 3): PEPD (NM_000285)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEPD
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		Addgene plasmids for PEPD

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PEPD
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		QuantiFast Probe-based Assays in human, mouse, rat PEPD

Additional mRNA sequence:

AK057538.1 AK225037.1 AK290756.1 AK290781.1 AK291561.1 AK293126.1 AK294619.1 BC004305.1

BC015027.1 BC028295.1 BT006692.1 CR541669.1 J04605.1

19 DOTS entries:

DT.447692 DT.100793949 DT.100793951 DT.121501050 DT.91772559 DT.100732650 DT.100793956 DT.121501026

DT.100793952 DT.40315802 DT.100793964 DT.100804841 DT.100810995 DT.120978751 DT.121500975 DT.121500988

DT.121500996 DT.100810001 DT.95256615

Selected AceView cDNA sequences (see all 455):

CR626494 BI756568 BM756066 BQ006951 BF432095 CB216666 BG767493 BM755925

BQ720584 CA445150 AA906251 BG770634 BE396008 CA397698 BQ021219 CA429295

CF272305 BF476206 N33079 BM023632 AW271523 BX113786 BM920899 CF264855

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for PEPD (see all 6) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17a	·	17b
SP1:					-																								-				-
SP2:					-
SP3:					-		-		-		-								-		-
SP4:																																	-
SP5:

ECgene alternative splicing isoforms for PEPD

(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)
About This Section

PEPD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCAGGCTGTG

About this image

PEPD expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 9) fully expand


Eye (Sensory Organs)
Mature Horizontal Cells Inner Nuclear Layer

Neurons
Mature Horizontal Cells Inner Nuclear Layer

Kidney (Urinary System)

Thyroid (Endocrine System)

Adipose (Muscoskeletal System)

PEPD Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PEPD Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.36473

Custom PCR Arrays for PEPD

Primer Products:		OriGene qPCR primer pairs and template standards for PEPD OriGene qSTAR qPCR primer pairs in human, mouse for PEPD
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PEPD
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		QuantiFast Probe-based Assays in human, mouse, rat PEPD

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEPD

(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 common ancestor of eukaryotes.

Orthologs for PEPD gene from Selected species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pepd^{1 , 5}	peptidase D^{1, 5}	84.18(n)¹ 89.05(a)¹		7 (20.70 cM)⁵ 18624¹ NM_008820.2¹ NP_032846.2¹ 34912379⁵
chicken (Gallus gallus)	Aves	PEPD¹	peptidase D	74.78(n) 79.11(a)		415776 NM_001079717.1 NP_001073185.1
lizard (Anolis carolinensis)	Reptilia	PEPD⁶	peptidase D	69(a)	1 ↔ 1	GL343508.1(517939-630186)
African clawed frog (Xenopus laevis)	Amphibia	BC054994.1²	--	74.32(n)		BC054994.1
zebrafish (Danio rerio)	Actinopterygii	BC055252.1²	--	75.46(n)		337498 BC055252.1
fruit fly (Drosophila melanogaster)	Insecta	Dip-C^{1 , 3}	dipeptidyl-peptidase³ Dipeptidase C¹	50(a)³ 59.83(n)¹ 53.35(a)¹		87B9³ 47769¹ NM_141935.3¹ NP_650192.1¹
worm (Caenorhabditis elegans)	Secernentea	K12C11.1^{1 , 3}	K12C11.1¹	52(a)³ 56.62(n)¹ 54.78(a)¹		I(1341234-1342265)³ 171704¹ NM_058442.3¹ NP_490843.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	(YFR006W)⁴	Putative X-Pro aminopeptidase; green fluorescent protein more	--		6(156145-157752) 850556 NP_116661.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G29490¹	AT4G29490	56.88(n) 58.75(a)		829070 NM_119094.4 NP_194678.2
rice (Oryza sativa)	Liliopsida	Os.27534²	Oryza sativa (japonica cultivar-group) cDNA clone0 more	71.33(n)		AK064268.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PEPD gene

Find genes that share paralogs with PEPD About GenesLikeMe

1 Pseudogenes.org Pseudogene for PEPD
PGOHUM00000237113

(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)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_011615⁴		Prolidase deficiency (PD)⁴	--	see VAR_011615	2	G D	mis⁴		0	--	--	--	--
VAR_004404⁴		Prolidase deficiency (PD)⁴	--	see VAR_004404	2	D N	mis⁴		0	--	--	--	--
VAR_011614⁴		Prolidase deficiency (PD)⁴	--	see VAR_011614	2	R Q	mis⁴		0	--	--	--	--
VAR_004405⁴		Prolidase deficiency (PD)⁴	--	see VAR_004405	2	G R	mis⁴		0	--	--	--	--
rs121917725^1,2	C	pathogenic¹	34060009(-)	`ACGACC/TGAACG`	6	R *	stg¹		0	--	--	--	--
rs140842^1,2	C	--	33877912(+)	`GACAG-/AAAGT AAAGT`	3	--	ut3¹		0	--	--	--	--
rs10659604^1,2	C	--	33877913(+)	`AAGTA-/AAAG T/AAGTATCAGA`	6	--	ut3¹		0	--	--	--	--
rs79486519^1,2	C	--	33878074(+)	`ATTAA-/TTAA AAAAG`	3	--	ut3¹		0	--	--	--	--
rs111376044^1,2	C	--	33880403(+)	`GGGCTC/-TCCCC`	3	--	int¹		1		CSA	2
rs78521473^1,2	C,F	--	33881647(+)	`GCCAAC/GGGGCC`	3	--	int¹		7		WA NA CSA EA	365

HapMap Linkage Disequilibrium report for PEPD (33877855 - 34012799 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for PEPD (see all 17): About this table

Variant ID	Type	Subtype	PubMed ID
esv2718472	CNV	Deletion	23290073
esv2677046	CNV	Deletion	23128226
nsv819550	CNV	Insertion	19587683
esv2469451	CNV	Insertion	19546169
nsv513524	CNV	Insertion	21212237
nsv522571	CNV	Loss	19592680
nsv911597	CNV	Loss	21882294
nsv911608	CNV	Loss	21882294
dgv3846n71	CNV	Loss	21882294
dgv3847n71	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): PEPD

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PEPD

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 613230
OMIM disorders: 170100
UniProtKB/Swiss-Prot: PEPD_HUMAN, P12955

Prolidase deficiency (PD) [MIM:170100]: A multisystem disorder associated with massive iminodipeptiduria

and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features

include skin ulcers, developmental delay, recurrent infections, and a characteristic facies. Note=The disease is

caused by mutations affecting the gene represented in this entry

3 diseases for PEPD:
About MalaCards

prolidase deficiency legg-calve-perthes disease bacterial vaginosis

2 inferred disease relationships from the University of Copenhagen DISEASES database for PEPD:

Intellectual disability Bacterial vaginosis

Find genes that share disorders with PEPD About GenesLikeMe

26 Novoseek inferred disease relationships for PEPD gene (see top 10) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
skin ulcer	73.2	11	1437403 (1), 18806117 (1), 8408817 (1), 12452876 (1) (see all 10)
mental retardation	61	22	1437403 (1), 12000488 (1), 12646727 (1), 15309682 (1) (see all 18)
bacterial vaginosis	53.8	5	12388968 (2), 17714681 (1), 12517887 (1), 12023767 (1)
leg ulcer	53.2	10	11116849 (2), 18855790 (2), 1301685 (1), 9411652 (1) (see all 8)
skin lesion	52.1	18	12384772 (2), 2010534 (2), 15309682 (1), 19415262 (1) (see all 13)
splenomegaly	49	5	8408817 (1), 9587929 (1), 17459310 (1), 19937054 (1) (see all 5)
osteogenesis imperfecta	47.8	3	15802041 (2), 11277941 (1)
respiratory tract infections	30.4	4	12000488 (1), 15309682 (1), 19415262 (1)
connective tissue diseases	28	3	19415262 (1), 17142620 (1)
enzyme deficiency	27	1	8919529 (1)
ulcer	26.6	5	8919529 (2), 17459310 (1), 10886759 (1), 17166065 (1)
genetic disorder	20	5	8408817 (2), 18806117 (1), 12452876 (1), 11113899 (1)
breast cancer	10.8	21	16875494 (5), 10451808 (3), 14572862 (2), 11447735 (2) (see all 8)
adenocarcinoma lung	9.71	9	9337540 (4), 9337541 (4)
neoplastic disease	9.05	2	9972056 (1), 10697434 (1)
cystic fibrosis	8.95	1	17517257 (1)
tumors	4.47	3	11398579 (1), 15804176 (1)
short stature	3.24	2	11116849 (1), 10886759 (1)
dermatitis	0	1	12000488 (1)
inflammation	0	1	17899316 (1)
skin diseases	0	1	1445183 (1)
adenocarcinoma	0	1	9337541 (1)
melanoma	0	5	15804176 (3), 18340504 (1), 17377743 (1)
vasculitis	0	2	8258246 (1), 9411652 (1)
cancer	0	7	17377743 (4), 15804176 (2)
immunodeficiency	0	1	9411652 (1)

Genatlas disease: PEPD

prolidase deficiency,with variable expression from no manifestation to severe progressive skin

ulceration,decreased resistance to infection,impaired cognitive development

Genetic Association Database (GAD): PEPD
Human Genome Epidemiology (HuGE) Navigator: PEPD (2 documents)

Export disorders for PEPD 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 PEPD gene, integrated from 10 sources (see all 224):
(articles sorted by number of sources associating them with PEPD)

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

Primary structure and gene localization of human prolidase. (PubMed id 2925654)^{1, 2, 3} Endo F.... Matsuda I. (J. Biol. Chem. 1989)
Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. (PubMed id 1972707)^{1, 3, 9} Tanoue A....Matsuda I. (J. Biol. Chem. 1990)
Four novel PEPD alleles causing prolidase deficiency. (PubMed id 8198124)^{1, 2, 9} Ledoux P.... Hechtman P. (Am. J. Hum. Genet. 1994)
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. (PubMed id 12384772)^{1, 2, 9} Forlino A.... Cetta G. (Hum. Genet. 2002)
Expression and molecular analysis of mutations in prolidase deficiency. (PubMed id 8900231)^{1, 2, 9} Ledoux P.... Hechtman P. (Am. J. Hum. Genet. 1996)
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. (PubMed id 2365824)^{1, 2, 9} Tanoue A.... Matsuda I. (J. Clin. Invest. 1990)
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. (PubMed id 22479202)^{1, 4} Dastani Z....Kathiresan S. (PLoS Genet. 2012)
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. (PubMed id 22158537)^{1, 4} Cho Y.S....Seielstad M. (Nat. Genet. 2012)
Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. (PubMed id 19401414)^{1, 4} Takeuchi F....Kato N. (Diabetes 2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 5184	HGNC: 8840	AceView: PEPD	Ensembl:ENSG00000124299	euGenes: HUgn5184
ECgene: PEPD	H-InvDB: PEPD

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

Name	Description
PharmGKB entry for PEPD	Pharmacogenomics, SNPs, Pathways

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

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Patent Information for PEPD gene:
Search GeneIP for patents involving PEPD

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

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ENZYME DEFICIENCY
Leg Ulcer
Splenomegaly
Respiratory Tract Infections
Melanoma
Dermatitis
Skin Ulcer
Ulcer
Vasculitis
Bacterial Vaginosis
Inflammation
Cystic Fibrosis
SHORT STATURE
SKIN LESION
ADENOCARCINOMA LUNG
immunodeficiency
Skin Diseases
neoplastic disease
Breast Cancer
Osteogenesis Imperfecta
Tumors
Mental Retardation
Adenocarcinoma
genetic disorder
Cancer
Connective Tissue Diseases

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PEPD Gene

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