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    PEPD peptidase D [ Homo sapiens (human) ]

    Gene ID: 5184, updated on 9-Jun-2013
    Official Symbol
    PEPDprovided by HGNC
    Official Full Name
    peptidase Dprovided by HGNC
    Primary source
    HGNC:8840
    See related
    Ensembl:ENSG00000124299; HPRD:01358; MIM:613230; Vega:OTTHUMG00000180470
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PROLIDASE
    Summary
    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]
    Location :
    19q13.11
    Sequence :
    Chromosome: 19; NC_000019.9 (33877855..34012799, complement)
    See PEPD in Epigenomics

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1, member B1 pseudogene 7 Neighboring gene CCAAT/enhancer binding protein (C/EBP), gamma Neighboring gene uncharacterized LOC100996672 Neighboring gene uncharacterized LOC100996681

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. The decrease in prolidase activity in myeloproliferative neoplasms. Nowicka J, et al. Adv Clin Exp Med, 2012 Nov-Dec. PMID 23457135.
    2. Identification and analysis of a novel mutation in PEPD gene in two Kashmiri siblings with prolidase enzyme deficiency. Pandit RA, et al. Gene, 2013 Mar 10. PMID 23287645.
    3. Prolidase directly binds and activates epidermal growth factor receptor and stimulates downstream signaling. Yang L, et al. J Biol Chem, 2013 Jan 25. PMID 23212918.
    4. A Mn(II)-Mn(II) center in human prolidase. Besio R, et al. Biochim Biophys Acta, 2013 Jan. PMID 22999980.
    5. A high-throughput approach for measuring temporal changes in the interactome. Kristensen AR, et al. Nat Methods, 2012 Sep. PMID 22863883.

    See all (64) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. PEPD is a ligand of EGFR and presents a novel mechanism of EGFR activation
      Title: Prolidase directly binds and activates epidermal growth factor receptor and stimulates downstream signaling.
    2. A diminished prolidase activity may contribute to alteration of collagen metabolism and should be considered a biomarker of myeloproliferative neoplasms progress.
      Title: The decrease in prolidase activity in myeloproliferative neoplasms.
    3. Although approximately 70 PEPD gene mutations and polymorphisms have been reported in various ethnic groups, we however report, for the first time, the identification of insertion mutation in human the PEPD gene.
      Title: Identification and analysis of a novel mutation in PEPD gene in two Kashmiri siblings with prolidase enzyme deficiency.
    4. A Mn(II)-Mn(II) center in human prolidase.
      Title: A Mn(II)-Mn(II) center in human prolidase.
    5. Assessed the serum prolidase enzyme level and the oxidative-antioxidative status in chronic hepatitis C infection. The prolidase was higher in the chronic hepatitis C group compared to the control group.
      Title: Prolidase and oxidative stress in chronic hepatitis C.
    6. Increased prolidase seems to be associated with increased NO levels and oxidative stress along with decreased antioxidant levels in bladder cancer.
      Title: Serum prolidase activity, oxidative stress, and nitric oxide levels in patients with bladder cancer.
    7. Relinoic acid regulates prolidase activity in human dermal cells via IGF receptor signaling in photoaged cells.
      Title: The retinoic acid-induced up-regulation of insulin-like growth factor 1 and 2 is associated with prolidase-dependent collagen synthesis in UVA-irradiated human dermal equivalents.
    8. elevated in submucosal uterine fibroids
      Title: Oxidative stress and prolidase activity in women with uterine fibroids.
    9. Serum prolidase activity is elevated in patients with pulmonary tuberculosis
      Title: Serum prolidase activity in patients with pulmonary tuberculosis.
    10. Prolidase activity was positively correlated erum prolidase activity is significantly associated with Legg-Calve-Perthes disease.
      Title: Serum prolidase activity and oxidative-antioxidative status in Legg-Calve-Perthes disease.
    Submit: New GeneRIF Correction See all (33)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    P12955 P54253 ATXN1    HPRD  PubMed  
    P12955 P12955 PEPD    HPRD  PubMed  
    BioGRID:111208 BioGRID:106937 ASS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:112217 ATXN1    BioGRID  PubMed Two-hybrid 
    BioGRID:111208 BioGRID:121161 BCCIP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:107273 CAPN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:107290 CASP7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:120866 CNDP2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:111472 CTSA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:114031 CUL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:108082 DLD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:115383 DPP3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:108292 EIF4E    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:108299 EIF5A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:109898 EIF6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:122520 FTO    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:108904 GBP2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:114976 GDA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:119664 GINS2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:109006 GLS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:109061 GNS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:109191 GSR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:114454 KYNU    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:124950 LDHAL6B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:110682 MVD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:115438 NAMPT    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:115669 NDRG1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:131892 NHLRC2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:112109 RPS6KA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111208 BioGRID:112574 SPP1    BioGRID  PubMed Two-hybrid 
    BioGRID:111208 BioGRID:112872 TERF1    BioGRID  PubMed Two-hybrid 
    BioGRID:111208 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Homology

    Clone Names

    • MGC10905

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aminopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    dipeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    manganese ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metallocarboxypeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cellular amino acid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    collagen catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    xaa-Pro dipeptidase
    Names
    xaa-Pro dipeptidase
    imidodipeptidase
    X-Pro dipeptidase
    proline dipeptidase
    aminoacyl-L-proline hydrolase
    NP_000276.2
    NP_001159528.1
    NP_001159529.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013358.1 RefSeqGene

      Range
      5001..139945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000285.3 → NP_000276.2  xaa-Pro dipeptidase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AW512991, BC015027, DC395475
      Consensus CDS
      CCDS42544.1
      UniProtKB/Swiss-Prot
      P12955
      Related
      ENSP00000244137, OTTHUMP00000264333, ENST00000244137, OTTHUMT00000451432
      Conserved Domains (3) summary
      cd01087
      Location:192 – 467
      Blast Score: 878
      Prolidase; Prolidase. E.C. 3.4.13.9. Also known as Xaa-Pro dipeptidase, X-Pro dipeptidase, proline dipeptidase., imidodipeptidase, peptidase D, gamma-peptidase. Catalyses hydrolysis of Xaa-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on ...
      PRK10879
      Location:27 – 481
      Blast Score: 598
      PRK10879; proline aminopeptidase P II; Provisional
      pfam05195
      Location:18 – 136
      Blast Score: 358
      AMP_N; Aminopeptidase P, N-terminal domain

    2. NM_001166056.1 → NP_001159528.1  xaa-Pro dipeptidase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK294619, AW512991, DC395475
      Consensus CDS
      CCDS54245.1
      UniProtKB/Swiss-Prot
      P12955
      Related
      ENSP00000380226, OTTHUMP00000264334, ENST00000397032, OTTHUMT00000451433
      Conserved Domains (3) summary
      cd01087
      Location:160 – 426
      Blast Score: 763
      Prolidase; Prolidase. E.C. 3.4.13.9. Also known as Xaa-Pro dipeptidase, X-Pro dipeptidase, proline dipeptidase., imidodipeptidase, peptidase D, gamma-peptidase. Catalyses hydrolysis of Xaa-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on ...
      COG0006
      Location:60 – 435
      Blast Score: 388
      PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
      pfam05195
      Location:18 – 136
      Blast Score: 359
      AMP_N; Aminopeptidase P, N-terminal domain

    3. NM_001166057.1 → NP_001159529.1  xaa-Pro dipeptidase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK293126, AW512991, BC015027, DC395475
      Consensus CDS
      CCDS54244.1
      UniProtKB/Swiss-Prot
      P12955
      Related
      ENSP00000391890, OTTHUMP00000264335, ENST00000436370, OTTHUMT00000451434
      Conserved Domains (2) summary
      cd01087
      Location:128 – 403
      Blast Score: 876
      Prolidase; Prolidase. E.C. 3.4.13.9. Also known as Xaa-Pro dipeptidase, X-Pro dipeptidase, proline dipeptidase., imidodipeptidase, peptidase D, gamma-peptidase. Catalyses hydrolysis of Xaa-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on ...
      cl08433
      Location:18 – 67
      Blast Score: 117
      AMP_N; Aminopeptidase P, N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p10 Primary Assembly

      Range
      33877855..34012799, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      30378491..30405183, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018930.1 Alternate CHM1_1.0

      Range
      34035265..34170337, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01004306.1 None
    genomic ABBA01004307.1 None
    genomic ABBA01004308.1 None
    genomic ABBA01004309.1 None
    genomic ABBA01004310.1 None
    genomic ABBA01012594.1 (44879..71571) None
    genomic AC008744.6 (83959..203200) None
    genomic AC010485.6 (21572..37153) None
    genomic AMYH01009704.1 (64201..199273) None
    genomic M35496.1 None
    mRNA AK057538.1 None
    mRNA AK225037.1 None
    mRNA AK290756.1 BAF83445.1
    mRNA AK290781.1 BAF83470.1
    mRNA AK291561.1 BAF84250.1
    mRNA AK293126.1 BAG56678.1
    mRNA AK294619.1 BAG57802.1
    mRNA AW512991.1 None
    mRNA BC004305.1 AAH04305.1
    mRNA BC015027.1 AAH15027.1
    mRNA BC028295.1 AAH28295.1
    mRNA BT006692.1 AAP35338.1
    mRNA CR541669.1 CAG46470.1
    mRNA DC385464.1 None
    mRNA DC395475.1 None
    mRNA J04605.1 AAA60064.1
    other-genetic DQ891114.2 ABM82040.1
    other-genetic DQ894294.2 ABM85220.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12955.3 GenPept UniProtKB/Swiss-Prot:P12955

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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