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Gene Review

DEFA1  -  defensin, alpha 1

Homo sapiens

Synonyms: DEF1, DEFA2, HNP-1, HP-1, HP1, ...
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Disease relevance of DEFA1


Psychiatry related information on DEFA1

  • Neither the MRI signal intensity of the globus pallidus nor MRS correlated with neuropsychologic test results [5].
  • BACKGROUND: Previous 1H-MR spectroscopy (MRS) studies compared biochemical spectra of persons with dementia with those of healthy control subjects [6].
  • Hydrogen-1 MR spectroscopy (MRS) studies demonstrate metabolic differences between patients who have Alzheimer's disease (AD) and cognitive normal age-matched controls [7].
  • Hippocampal choline-containing compounds (Cho) determined with 1H MR spectroscopy (MRS) are decreased in major depression episodes and return to baseline levels after antidepressive electroconvulsive therapy (ECT) [8].
  • The addition of MRS to the MR imaging provides a higher specificity in tumour detection and can be recommended as a problem-solving modality for patients with elevated PSA levels and suspicious TRUS before biopsy [9].

High impact information on DEFA1


Chemical compound and disease context of DEFA1


Biological context of DEFA1


Anatomical context of DEFA1

  • Human cervical epithelial cells incubated with HNP-1 or HD5 accumulated the peptides intracellularly [24].
  • Defensins HNP1 and HBD2 stimulation of wound-associated responses in human conjunctival fibroblasts [21].
  • The inhibition of LF by human neutrophil protein (HNP-1) was noncompetitive [25].
  • HNP-1 rescued murine macrophages from B. anthracis-induced cytotoxicity, and in vivo treatment with HNP-1-3 protected mice against the fatal consequences of LeTx [25].
  • In vitro experiments have indicated that ART-1, an enzyme also present in the airway epithelium, specifically modifies Arg(14) of the HNP-1, causing the loss of the peptide's antimicrobial and cytotoxic activity, while preserving its chemotactic activity [26].

Associations of DEFA1 with chemical compounds

  • The peptides, HNP-1, HNP-2, and HNP-3, which we have termed defensins, were rich in cystine, arginine, and aromatic residues, but were devoid of free sulfhydryl groups and carbohydrate moieties [27].
  • HP-1 is a 30-residue cysteine- and arginine-rich peptide of the human neutrophil primary granule and is the most abundant human representative of the family of peptides variously called defensins and corticostatins [1].
  • The first peak was resolved further by C4 reversed phase HPLC and yielded an active fraction shown by NH2-terminal amino acid sequence analysis to contain defensins HNP-1, HNP-2, and HNP-3 [28].
  • Recombinant and native HNP-1 purified from PMN were identical as judged by mass spectrometry, retention time in reverse-phase high performance liquid chromatography, migration on acid-urea polyacrylamide gels, and reaction with a conformation-specific antibody [29].
  • In def1, a mutant tomato line having a defective octadecanoid pathway, the 48-kDa MBP kinase is activated by wounding and systemin as in the wild-type plants [30].

Other interactions of DEFA1

  • These results identify the antimicrobial proteins, CAP37/azurocidin and defensins HNP-1 and HNP-2, as potent neutrophil-derived chemoattractants for T-cells [28].
  • Immunohistochemistry revealed lysozyme, lactoferrin, secretory phospholipase A(2), and HNP-1, -2, and -3 to be present in all samples, whereas HBD-1 was present only in some of the healthy and inflamed samples [31].
  • The results of amino acid sequencing by Edman degradation and homology studies indicated that P14 was consistent with a peptide, human alpha-defensin 1 (HNP-1) which belongs to the defensin family [32].
  • Human PMNs contain four defensins termed HNP-1 to HNP-4 [15].
  • The bactericidal action of this peptide in different physicochemical conditions, as well as the evaluation of the synergistic effect of the peptide with mixtures of neutrophil alpha-defensin HNP-1, epithelial beta-defensin HBD-1, cathelicidin LL-37 and lysozyme were studied using the bacterial membrane permeability test [33].

Analytical, diagnostic and therapeutic context of DEFA1

  • Recently, ADP-ribosylated human neutrophil-derived peptide (HNP-1, an antimicrobial peptide secreted by immune cells) has been identified in the bronchoalveolar lavage fluid from individuals who smoke cigarettes [26].
  • RESULTS: The onset of symptoms was delayed and hospitalizations were fewer in HP2 compared with HP1 (P < 0.05) [34].
  • The binding site for HNP-1 on C1q is most likely located on the collagen-like stalks, as a clear, dose-dependent binding of HNP-1 to either intact C1q or to the collagen-like stalks of C1q was demonstrated using enzyme-linked immunosorbent assay (ELISA) [35].
  • Using peripheral blood cells from leukapheresis, containing about 90% of polymorphonuclear cells, we could identify HNP-1, -2, and -4 and propeptides of up to 49 amino acids in length, eluted from HLA class II molecules [36].
  • Several RCC lines were found to express mRNA as well as the specific peptides of HNP-1, -2, and -3 demonstrated by reverse transcriptase-polymerase chain reaction, mass spectrometric, and flow cytometric analyses [37].


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  14. Antibacterial activity of human neutrophil defensins in experimental infections in mice is accompanied by increased leukocyte accumulation. Welling, M.M., Hiemstra, P.S., van den Barselaar, M.T., Paulusma-Annema, A., Nibbering, P.H., Pauwels, E.K., Calame, W. J. Clin. Invest. (1998) [Pubmed]
  15. Evaluation of susceptibility of gram-positive and -negative bacteria to human defensins by using radial diffusion assay. Takemura, H., Kaku, M., Kohno, S., Hirakata, Y., Tanaka, H., Yoshida, R., Tomono, K., Koga, H., Wada, A., Hirayama, T., Kamihira, S. Antimicrob. Agents Chemother. (1996) [Pubmed]
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  18. Delayed changes in T1-weighted signal intensity in a rat model of 15-minute transient focal ischemia studied by magnetic resonance imaging/spectroscopy and synchrotron radiation X-ray fluorescence. Wang, X., Qian, J., He, R., Wei, L., Liu, N., Zhang, Z., Huang, Y., Lei, H. Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine. (2006) [Pubmed]
  19. Proton MR spectroscopy for the evaluation of brain injury in asphyxiated, term neonates. Barkovich, A.J., Baranski, K., Vigneron, D., Partridge, J.C., Hallam, D.K., Hajnal, B.L., Ferriero, D.M. AJNR. American journal of neuroradiology. (1999) [Pubmed]
  20. Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability. Ballana, E., González, J.R., Bosch, N., Estivill, X. BMC Genomics (2007) [Pubmed]
  21. Defensins HNP1 and HBD2 stimulation of wound-associated responses in human conjunctival fibroblasts. Li, J., Raghunath, M., Tan, D., Lareu, R.R., Chen, Z., Beuerman, R.W. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  22. Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3. Mars, W.M., Patmasiriwat, P., Maity, T., Huff, V., Weil, M.M., Saunders, G.F. J. Biol. Chem. (1995) [Pubmed]
  23. Assignment of defensin gene(s) to human chromosome 8p23. Sparkes, R.S., Kronenberg, M., Heinzmann, C., Daher, K.A., Klisak, I., Ganz, T., Mohandas, T. Genomics (1989) [Pubmed]
  24. Human {alpha}- and beta-Defensins Block Multiple Steps in Herpes Simplex Virus Infection. Hazrati, E., Galen, B., Lu, W., Wang, W., Ouyang, Y., Keller, M.J., Lehrer, R.I., Herold, B.C. J. Immunol. (2006) [Pubmed]
  25. Human alpha-defensins neutralize anthrax lethal toxin and protect against its fatal consequences. Kim, C., Gajendran, N., Mittrücker, H.W., Weiwad, M., Song, Y.H., Hurwitz, R., Wilmanns, M., Fischer, G., Kaufmann, S.H. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
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  28. Identification of defensin-1, defensin-2, and CAP37/azurocidin as T-cell chemoattractant proteins released from interleukin-8-stimulated neutrophils. Chertov, O., Michiel, D.F., Xu, L., Wang, J.M., Tani, K., Murphy, W.J., Longo, D.L., Taub, D.D., Oppenheim, J.J. J. Biol. Chem. (1996) [Pubmed]
  29. Intramolecular inhibition of human defensin HNP-1 by its propiece. Valore, E.V., Martin, E., Harwig, S.S., Ganz, T. J. Clin. Invest. (1996) [Pubmed]
  30. Myelin basic protein kinase activity in tomato leaves is induced systemically by wounding and increases in response to systemin and oligosaccharide elicitors. Stratmann, J.W., Ryan, C.A. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  31. Detection of natural peptide antibiotics in human nasolacrimal ducts. Paulsen, F.P., Pufe, T., Schaudig, U., Held-Feindt, J., Lehmann, J., Schröder, J.M., Tillmann, B.N. Invest. Ophthalmol. Vis. Sci. (2001) [Pubmed]
  32. Defensin-1, a peptide detected in the saliva of oral squamous cell carcinoma patients. Mizukawa, N., Sugiyama, K., Fukunaga, J., Ueno, T., Mishima, K., Takagi, S., Sugahara, T. Anticancer Res. (1998) [Pubmed]
  33. Menstrual Hemocidin HbB115-146 Is an Acidophilic Antibacterial Peptide Potentiating the Activity of Human Defensins, Cathelicidin and Lysozyme. Mak, P., Siwek, M., Pohl, J., Dubin, A. Am. J. Reprod. Immunol. (2007) [Pubmed]
  34. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gorry, M.C., Gabbaizedeh, D., Furey, W., Gates, L.K., Preston, R.A., Aston, C.E., Zhang, Y., Ulrich, C., Ehrlich, G.D., Whitcomb, D.C. Gastroenterology (1997) [Pubmed]
  35. Inhibition of activation of the classical pathway of complement by human neutrophil defensins. van den Berg, R.H., Faber-Krol, M.C., van Wetering, S., Hiemstra, P.S., Daha, M.R. Blood (1998) [Pubmed]
  36. Defensins are dominant HLA-DR-associated self-peptides from CD34(-) peripheral blood mononuclear cells of different tumor patients (plasmacytoma, chronic myeloid leukemia). Halder, T.M., Blüggel, M., Heinzel, S., Pawelec, G., Meyer, H.E., Kalbacher, H. Blood (2000) [Pubmed]
  37. Human alpha-defensins HNPs-1, -2, and -3 in renal cell carcinoma: influences on tumor cell proliferation. Müller, C.A., Markovic-Lipkovski, J., Klatt, T., Gamper, J., Schwarz, G., Beck, H., Deeg, M., Kalbacher, H., Widmann, S., Wessels, J.T., Becker, V., Müller, G.A., Flad, T. Am. J. Pathol. (2002) [Pubmed]
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