{"entity":{"id":"defa1","kind":"target","name":"DEFA1","aka":["defensin alpha 1","Neutrophil defensin 1","HNP-1","DEF1","DEFA2"],"tldr":"DEFA1 (Neutrophil defensin 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"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. Interacts with the essential precursor of cell wall synthesis lipid II to inhibit bacterial cell wall synthesis. 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.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Docetaxel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2761","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2761"},{"label":"UniProt P59665","url":"https://www.uniprot.org/uniprotkb/P59665/entry"},{"label":"NCBI Gene 1667","url":"https://www.ncbi.nlm.nih.gov/gene/1667"},{"label":"Ensembl ENSG00000206047","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000206047"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DEFA1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2761","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2761","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P59665","url":"https://www.uniprot.org/uniprotkb/P59665/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DEFA1","url":"https://civicdb.org/features/1428","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA DEFA1: RNA tissue enriched (bone marrow 59,494 nTPM); blood lineage lineage enriched (granulocytes 2,666 nTPM); high antibody staining in 2 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas DEFA1 tissue","url":"https://www.proteinatlas.org/ENSG00000206047-DEFA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000206047 associations","url":"https://platform.opentargets.org/target/ENSG00000206047/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2761","ensembl":"ENSG00000206047","uniprot":"P59665","entrez":"1667","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Selsted M.E. et al, J. Clin. Invest, 1985, \"Primary structures of three human neutrophil defensins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/4056036/","biology":"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. Interacts with the essential precursor of cell wall synthesis lipid II to inhibit bacterial cell wall synthesis. 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. 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. 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. Location: Secreted (UniProt). Locus 8p23.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},"route":"/targets/defa1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}],"cancer":[{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}]}}