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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PEPD Gene

protein-coding   GIFtS: 62
GCID: GC19M033877

Peptidase D
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Aliases
for PEPD gene

(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


Summaries
for PEPD gene

(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 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 bacterial vaginosis. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PEPD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PEPD gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12955

    • PEPD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEPD Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000276.2  NP_001159528.1  NP_001159529.1  

    ENSEMBL proteins: 
     ENSP00000244137   ENSP00000380226   ENSP00000391890   ENSP00000468516   ENSP00000467674  

    Human Recombinant Protein Products for PEPD: 
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    Novus Biologicals PEPD Proteins
    Novus Biologicals PEPD Lysates
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for PEPD 


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    Cloud-Clone Corp. CLIAs for PEPD

    Protein Domains /
    Families
    for PEPD gene

    (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


    PEPD for domains           About GeneDecksing


    Function
    for PEPD gene

    (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 Oct 2013 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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IEA--
    GO:0004181metallocarboxypeptidase activity TAS1972707
    GO:0008233peptidase activity ----
    GO:0016787hydrolase activity ----
    GO:0016805dipeptidase activity IEA--
         
    PEPD for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PEPD:
     Decreased influenza A/WSN/33 r  Increased cell number in G2M,   Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PEPD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEPD

    miRNA
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    Inhib. RNA
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    Gene Editing
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                         Customized adenovirus for potent knockdown of PEPD

    Clone
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEPD


    Pathways & Interactions
    for PEPD gene

    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEPD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/40 Interacting proteins for PEPD (P129552, 3 ENSP000002441374) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    HIST1H4EP628053I2D: score=4 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006520cellular amino acid metabolic process TAS1972707
    GO:0009987cellular process ----
    GO:0030574collagen catabolic process IEA--

    PEPD for ontologies           About GeneDecksing



    Drugs & Compounds
    for PEPD gene

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

    PEPD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PEPD

    2 HMDB Compounds for PEPD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Glycylproline1-(Aminoacetyl)proline (see all 6)704-15-416642978
    Manganesemanganese 7439-96-5--

    10/38 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)

    Search CenterWatch for drugs/clinical trials and news about PEPD

    Transcripts
    for PEPD gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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 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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000593085 ENST00000589598 ENST00000591968 ENST00000244137(uc002nur.4)
    ENST00000397032(uc010xrr.2) ENST00000436370(uc002nuq.4 uc010xrs.2)
    ENST00000588328 ENST00000590731 ENST00000593163 ENST00000588719 ENST00000590755
    ENST00000590408
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEPD
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PEPD
    SwitchGear 3'UTR luciferase reporter plasmid: PEPD 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PEPD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEPD
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    Clone
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    OriGene ORF clones in mouse, rat for PEPD
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEPD
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEPD
      QIAGEN 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 

    24/455 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

    5/6 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

    Expression
    for PEPD gene

    (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

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


    PEPD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Cardiovascular System)
             monocyte-derived dendritic cells
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
     
     Kidney (Urinary System)

     -- (Gastrointestinal Tract)
             small intestine

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

    SOURCE GeneReport for Unigene cluster: Hs.36473
        SABiosciences Custom PCR Arrays for PEPD
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEPD

    Orthologs
    for PEPD gene

    (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 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pepd1 , 5 peptidase D1, 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
    		 Uncharacterized protein
    		 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-C1 , 3 dipeptidyl-peptidase3
    Dipeptidase C1    		 50(a)3
    59.88(n)1
    53.46(a)1    		   87B93
    477691  NM_141935.31  NP_650192.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea K12C11.11 , 3 Protein K12C11.11 52(a)3
    56.62(n)1
    54.78(a)1    		   I(1341234-1342265)3
    1717041  NM_058442.21  NP_490843.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes (YFR006W)4
    YFR006W1    		 Putative X-Pro aminopeptidase; green fluorescent protein more4
    hypothetical protein1    		 41.92(n)1
    34.89(a)1    		   6(156145-157752)4
    8505561, 4  NP_116661.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G294901 Xaa-Pro dipeptidase 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
    for PEPD gene

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

    PEPD for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PEPD
    PGOHUM00000237113


    Genomic Variants
    for PEPD gene

    (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) 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

    10/3143 SNPs in PEPD are shown (see all 3143)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0116154
    		Prolidase deficiency (PD)4--see VAR_0116152 G D mis40--------
    VAR_0044044
    		Prolidase deficiency (PD)4--see VAR_0044042 D N mis40--------
    VAR_0116144
    		Prolidase deficiency (PD)4--see VAR_0116142 R Q mis40--------
    VAR_0044054
    		Prolidase deficiency (PD)4--see VAR_0044052 G R mis40--------
    rs1219177251,2
    		Cpathogenic134060009(-) ACGACC/TGAACG 6 R * stg10--------
    rs1408421,2
    		C--33877912(+) GACAG-/AAAGT 
                AAAGT     		3 -- ut310--------
    rs106596041,2
    		C--33877913(+) AAGTA-/AAAG  
     T    /AAGTA    TCAGA     		6 -- ut310--------
    rs794865191,2
    		C--33878074(+) ATTAA-/TTAA  
                AAAAG     		3 -- ut310--------
    rs1113760441,2
    		C--33880403(+) GGGCTC/-TCCCC 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs785214731,2
    		C,F--33881647(+) GCCAAC/GGGGCC 3 -- int17Minor allele frequency- G:0.22WA NA CSA EA 365

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for PEPD (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718472CNV Deletion23290073
    esv2677046CNV Deletion23128226
    nsv819550CNV Insertion19587683
    esv2469451CNV Insertion19546169
    nsv513524CNV Insertion21212237
    nsv522571CNV Loss19592680
    nsv911597CNV Loss21882294
    nsv911608CNV Loss21882294
    dgv3846n71CNV Loss21882294
    dgv3847n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): PEPD
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PEPD
    DNA2.0 Custom Variant and Variant Library Synthesis for PEPD

    Disorders / Diseases
    for PEPD gene

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

    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

    20/45 diseases for PEPD (see all 45):    About MalaCards
    prolidase deficiency    bacterial vaginosis    legg-calve-perthes disease    erythromelalgia
    splenomegaly    osteogenesis imperfecta    hyper ige syndrome    epidermolysis bullosa simplex
    cutaneous leishmaniasis    vasculitis    epidermolysis bullosa    connective tissue disease
    short stature    uterine fibroid    vaginitis    leishmaniasis
    keloids    myotonic dystrophy    stomach cancer    myopia

    2 diseases from the University of Copenhagen DISEASES database for PEPD:
    Intellectual disability     Bacterial vaginosis

    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

    Publications
    for PEPD gene

    (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 9 sources (see all 218):
    (articles sorted by number of sources associating them with PEPD)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure and gene localization of human prolidase. (PubMed id 2925654)1, 2, 3 Endo F.... Matsuda I. (1989)
    2. Structural organization of the gene for human prolida se (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. (1990)
    3. Four novel PEPD alleles causing prolidase deficiency. (PubMed id 8198124)1, 2, 9 Ledoux P.... Hechtman P. (1994)
    4. 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. (2002)
    5. Expression and molecular analysis of mutations in prolidase deficiency. (PubMed id 8900231)1, 2, 9 Ledoux P.... Hechtman P. (1996)
    6. 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. (1990)
    7. 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. (2012)
    8. Meta-analysis of genome-wide association studies ident ifies eight new loci for type 2 diabetes in east Asians. (PubMed id 22158537)1, 4 Cho Y.S....Seielstad M. (2012)
    9. Confirmation of multiple risk Loci and genetic impact s by a genome-wide association study of type 2 diabetes in the Japanese populat ion. (PubMed id 19401414)1, 4 Takeuchi F....Kato N. (2009)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    External Searches for PEPD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PEPD gene

    (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

    Other Databases showing PEPD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PEPD gene

    (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
    NameDescription
    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.)
    About This Section
    		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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