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Beschreibung

The human DEFA1 gene (also known as DEF1, DEFA2, MRS, DEFA1B, Gene ID 1667) encodes a 94-amino acid precursor protein (UniProt P59665) with an N-terminal signal peptide (a.a. 1-19) and propeptide (a.a. 20-38) sequence. Posttranslational processing by proteolytic cleavages generates three neutrophil granule peptides, HP 1-56 (a.a. 39-94), neutrophil defensin 1 (HNP-1, HP-1, HP1, a.a. 65-94), and neutrophil defensin 2 (HNP-2, HP-2, HP2, a.a. 66-94). These peptides exhibit several biological activities including the non-oxidative destruction of ingested microorganisms, the inhibition of adrenocorticotropin-stimulated glucocorticoids synthesis, monocyte chemotaxis, the non-cytolytic inhibition of thymidine incorporation in HL-60 promyelocyte-like cells and the stimulation of nifedipine-sensitive calcium channels. The richest source of HP1-56 relative to HP-1 is found in fetal lung tissue. In addition, HP1-56 is found in the HL-60 promyelocytic cell line and in some leukemias, but not in normal mature circulating neutrophils.