DEFA1

Chr 8p23.1

defensin alpha 1

Aliases:: HNP-1
MANE:: ENST00000382692.3

OMIM: 125220 ↗NCBI: 1667 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DEFA1 · P59665

v62025-08-01

Predicted Aligned Error matrix for DEFA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.4/ 100

Confident

94 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)28%
Low(50–70)50%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

COVID-19 research
Unknown

Disease associations (Open Targets)

IgA glomerulonephritis
0.32
Sepsis
0.10
neoplasm
0.09
cancer
0.08
coronary artery disorder
0.06
Behcet disease
0.05
COVID-19
0.05
stroke disorder
0.04
alcohol drinking
0.04
Abnormal jaw morphology
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Neutrophil defensin 1

Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses or by promoting the activation and maturation of some APCs (PubMed:15616305, PubMed:17142766, PubMed:20220136, PubMed:24236072). Interacts with the essential precursor of cell wall synthesis lipid II to inhibit bacterial cell wall synthesis (PubMed:20214904). Inhibits adenovirus infection via inhibition of viral disassembly at the vertex region, thereby restricting the release of internal capsid protein pVI, which is required for endosomal membrane penetration during cell entry (PubMed:18191790). In addition, interaction with adenovirus capsid leads to the redirection of viral particles to TLR4 thereby promoting a NLRP3-mediated inflammasome response and interleukin 1-beta (IL-1beta) release (PubMed:35080426). Induces the production of proinflammatory cytokines including type I interferon (IFN) in plasmacytoid dendritic cells (pDCs) by triggering the degradation of NFKBIA and nuclear translocation of IRF1, both of which are required for activation of pDCs (PubMed:27031443)