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Gene Review

PEPD  -  peptidase D

Homo sapiens

Synonyms: Imidodipeptidase, PRD, Peptidase D, Prolidase, Proline dipeptidase, ...
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Disease relevance of PEPD


Psychiatry related information on PEPD

  • BACKGROUND: We describe a study of DSM-III-R Axis I diagnoses of lifetime comorbid nonsexual disorders in 60 males with paraphilias (PAs; N = 42) and nonparaphilic forms of sexual impulsivity-designated paraphilia-related disorders (PRD; N = 18) [6].
  • Genetic deficiency of prolidase can lead to severe problems in child development, including mental retardation [7].

High impact information on PEPD

  • Dynamin partners bind to the PRD and may either stimulate dynamin's GTPase activity or target dynamin to the plasma membrane [8].
  • Free clathrin-coated vesicles were induced by a peptide-blocking endophilin's SH3 domain and by antibodies to the proline-rich domain (PRD) of synaptojanin [9].
  • The same mutation caused a different degree of clinical phenotype of prolidase deficiency in this family, therefore factor(s) not related to the PEPD gene product also contribute to development of the clinical symptoms [10].
  • Prolidase deficiency is an autosomal recessive disorder with highly variable symptoms, including mental retardation, skin lesions, and abnormalities of collagenous tissues [10].
  • Transfection and expression analyses using the mutant prolidase cDNA revealed that a mutant protein translated from the abnormal mRNA had an Mr of 49,000 and was enzymatically inactive [10].

Chemical compound and disease context of PEPD


Biological context of PEPD


Anatomical context of PEPD


Associations of PEPD with chemical compounds


Regulatory relationships of PEPD


Other interactions of PEPD


Analytical, diagnostic and therapeutic context of PEPD


  1. Four novel PEPD alleles causing prolidase deficiency. Ledoux, P., Scriver, C., Hechtman, P. Am. J. Hum. Genet. (1994) [Pubmed]
  2. A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. Hershkovitz, T., Hassoun, G., Indelman, M., Shlush, L.I., Bergman, R., Pollack, S., Sprecher, E. Clin. Exp. Dermatol. (2006) [Pubmed]
  3. Characterization of a prolidase from Lactobacillus delbrueckii subsp. bulgaricus CNRZ 397 with an unusual regulation of biosynthesis. Morel, F., Frot-Coutaz, J., Aubel, D., Portalier, R., Atlan, D. Microbiology (Reading, Engl.) (1999) [Pubmed]
  4. Treatment-related deaths and second cancer risk after autologous stem-cell transplantation for Hodgkin's disease. André, M., Henry-Amar, M., Blaise, D., Colombat, P., Fleury, J., Milpied, N., Cahn, J.Y., Pico, J.L., Bastion, Y., Kuentz, M., Nedellec, G., Attal, M., Fermé, C., Gisselbrecht, C. Blood (1998) [Pubmed]
  5. The effects of serum iminodipeptides and prednisolone on superoxide generation and tyrosyl phosphorylation of proteins in neutrophils from a patient with prolidase deficiency. Zhang, J., Sugahara, K., Yasuda, K., Kodama, H., Sagara, Y., Kodama, H. Free Radic. Biol. Med. (1998) [Pubmed]
  6. Attention-deficit/hyperactivity disorder in males with paraphilias and paraphilia-related disorders: a comorbidity study. Kafka, M.P., Prentky, R.A. The Journal of clinical psychiatry. (1998) [Pubmed]
  7. Functional and molecular characterization of rat intestinal prolidase. Hu, M., Cheng, Z., Zheng, L. Pediatr. Res. (2003) [Pubmed]
  8. Dynamin and its role in membrane fission. Hinshaw, J.E. Annu. Rev. Cell Dev. Biol. (2000) [Pubmed]
  9. Fission and uncoating of synaptic clathrin-coated vesicles are perturbed by disruption of interactions with the SH3 domain of endophilin. Gad, H., Ringstad, N., Löw, P., Kjaerulff, O., Gustafsson, J., Wenk, M., Di Paolo, G., Nemoto, Y., Crun, J., Ellisman, M.H., De Camilli, P., Shupliakov, O., Brodin, L. Neuron (2000) [Pubmed]
  10. Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide. Tanoue, A., Endo, F., Akaboshi, I., Oono, T., Arata, J., Matsuda, I. J. Clin. Invest. (1991) [Pubmed]
  11. Plasma prolidase activity: a possible index of collagen catabolism in chronic liver disease. Myara, I., Myara, A., Mangeot, M., Fabre, M., Charpentier, C., Lemonnier, A. Clin. Chem. (1984) [Pubmed]
  12. Deregulation of collagen metabolism in human stomach cancer. Guszczyn, T., Sobolewski, K. Pathobiology (2004) [Pubmed]
  13. The activities of alanine aminopeptidase, leucine aminopeptidase, proline dipeptidase and prolyl dipeptidase in the mucosa of the small intestine. Investigations on normal children and patients with the malabsorption syndrome. Grävinghoff, J., Hütter, H.J. Eur. J. Pediatr. (1977) [Pubmed]
  14. Effect of melanin on netilmicin-induced inhibition of collagen biosynthesis in human skin fibroblasts. Buszman, E., Wrze??niok, D., Surazy??ski, A., Pa??ka, J., Moleda, K. Bioorg. Med. Chem. (2006) [Pubmed]
  15. Cloning and gene map assignment of the Xiphophorus DNA ligase 1 gene. Walter, R.B., Rolig, R.L., Kozak, K.A., McEntire, B., Morizot, D.C., Nairn, R.S. Mol. Biol. Evol. (1993) [Pubmed]
  16. Linkage between the loci for peptidase D and apolipoprotein CII on chromosome 19. Ball, S.P., Donald, J.A., Corney, G., Humphries, S.E. Ann. Hum. Genet. (1985) [Pubmed]
  17. Molecular basis of prolidase (peptidase D) deficiency. Endo, F., Matsuda, I. Mol. Biol. Med. (1991) [Pubmed]
  18. 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. Tanoue, A., Endo, F., Kitano, A., Matsuda, I. J. Clin. Invest. (1990) [Pubmed]
  19. Localization of PEPD to the long arm of chromosome 19. Davis, M.B., Schonk, D., Monteiro, M., Oerlemans, F., Povey, S., Wieringa, B. Ann. Hum. Genet. (1987) [Pubmed]
  20. Expression and molecular analysis of mutations in prolidase deficiency. Ledoux, P., Scriver, C.R., Hechtman, P. Am. J. Hum. Genet. (1996) [Pubmed]
  21. Primary structure and gene localization of human prolidase. Endo, F., Tanoue, A., Nakai, H., Hata, A., Indo, Y., Titani, K., Matsuda, I. J. Biol. Chem. (1989) [Pubmed]
  22. Linkage between alpha 1B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of A1BG. Eiberg, H., Bisgaard, M.L., Mohr, J. Clin. Genet. (1989) [Pubmed]
  23. Comparative gene mapping of man and Cebus capucinus: a study of 23 enzymatic markers. Créau-Goldberg, N., Cochet, C., Turleau, C., de Grouchy, J. Cytogenet. Cell Genet. (1981) [Pubmed]
  24. Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. Tanoue, A., Endo, F., Matsuda, I. J. Biol. Chem. (1990) [Pubmed]
  25. Prolidase activity in fibroblasts is regulated by interaction of extracellular matrix with cell surface integrin receptors. Palka, J.A., Phang, J.M. J. Cell. Biochem. (1997) [Pubmed]
  26. The activation domains, the proline-rich domain, and the C-terminal basic domain in p53 are necessary for acetylation of histones on the proximal p21 promoter and interaction with p300/CREB-binding protein. Liu, G., Xia, T., Chen, X. J. Biol. Chem. (2003) [Pubmed]
  27. Localisation of genetic markers and orientation of the linkage group on chromosome 19. Brook, J.D., Shaw, D.J., Meredith, L., Bruns, G.A., Harper, P.S. Hum. Genet. (1984) [Pubmed]
  28. FAK-independent regulation of prolidase activity and collagen biosynthesis in MCF-7 cells. Surazyński, A., Pałka, J. Folia Histochem. Cytobiol. (2001) [Pubmed]
  29. Further mapping of markers around the centromere of human chromosome 19. Brook, J.D., Skinner, M., Roberts, S.H., Rettig, W.J., Almond, J.W., Shaw, D.J. Genomics (1987) [Pubmed]
  30. The mechanism of daunorubicin-induced inhibition of prolidase activity in human skin fibroblasts and its implication to impaired collagen biosynthesis. Muszyńska, A., Pałka, J., Gorodkiewicz, E. Experimental and toxicologic pathology : official journal of the Gesellschaft für Toxikologische Pathologie. (2000) [Pubmed]
  31. epsilon-(gamma-Glutamyl)lysine cross-links in human stratum corneum. Abernethy, J.L., Hill, R.L., Goldsmith, L.A. J. Biol. Chem. (1977) [Pubmed]
  32. Incidence and prognostic significance of asymptomatic ischaemia in patients with sustained ventricular arrhythmias. Jordaens, L., Hollanders, G., De Schrijver, A., Simons, M., De Backer, G., Clement, D.L. Eur. Heart J. (1988) [Pubmed]
  33. Kinetic study of paracetamol on prolidase activity in erythrocytes by capillary electrophoresis with Ru(bpy)(3) (2+) electrochemiluminescence detection. Yuan, J., Wei, H., Jin, W., Yang, X., Wang, E. Electrophoresis (2006) [Pubmed]
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