DEFA4

DEFA4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1ZMM
Identifiers
Aliases	DEFA4 , DEF4, HNP-4, HP-4, HP4, defensin alpha 4
External IDs	OMIM: 601157; MGI: 3711900; HomoloGene: 48059; GeneCards: DEFA4; OMA:DEFA4 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8p23.1 Start 6,935,820 bp [1] End 6,938,306 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8 A2|8 Start 21,555,054 bp [2] End 21,556,012 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bone marrow bone marrow cells monocyte blood granulocyte spleen right lung upper lobe of left lung placenta right lobe of liver Top expressed in ileum jejunum duodenum embryo colon pancreas thymus esophagus liver stomach More reference expression data BioGPS n/a
Gene ontology Molecular function protein homodimerization activity Cellular component Golgi lumen extracellular region azurophil granule extracellular space specific granule lumen Biological process defense response defense response to bacterium neutrophil degranulation innate immune response antimicrobial humoral immune response mediated by antimicrobial peptide T cell chemotaxis antimicrobial humoral response killing of cells of other organism defense response to fungus innate immune response in mucosa antibacterial humoral response defense response to Gram-negative bacterium defense response to Gram-positive bacterium membrane disruption in other organism cellular response to lipopolysaccharide Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1669 100041688 Ensembl ENSG00000164821 ENSG00000285318 ENSMUSG00000061845 UniProt P12838 E9QLQ1 RefSeq (mRNA) NM_001925 NM_001177481 RefSeq (protein) NP_001916 NP_001170952 Location (UCSC) Chr 8: 6.94 – 6.94 Mb Chr 8: 21.56 – 21.56 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Defensin, alpha 4 (DEFA4), also known as neutrophil defensin 4 or HNP4, is a human defensin peptide that is encoded by the DEFA4 gene. ^{[5] [6]} HNP4 is expressed in the granules of the neutrophil where it defends the host against bacteria ^[7] and viruses. ^[8]

Function

Defensins are a peptide family of cytotoxic microbicides involved in innate immunity. ^[9] Members of the defensin family are distinguished by a conserved six-cysteine motif. Several human alpha defensin genes including HNP4 are clustered on chromosome 8. DEFA4 differs from other defensin genes by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. HNP4 inhibits corticotropin-stimulated corticosterone production. ^[5]

References

1. ENSG00000285318 GRCh38: Ensembl release 89: ENSG00000164821, ENSG00000285318 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000061845 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: DEFA4; defensin, alpha 4, corticostatin (Homo sapiens)".
6. Wu Z, Ericksen B, Tucker K, Lubkowski J, Lu W (September 2004). "Synthesis and characterization of human alpha-defensins 4-6". The Journal of Peptide Research. 64 (3): 118–25. doi:10.1111/j.1399-3011.2004.00179.x. PMID   15317502.
7. Ericksen B, Wu Z, Lu W, Lehrer RI (January 2005). "Antibacterial activity and specificity of the six human {alpha}-defensins". Antimicrobial Agents and Chemotherapy. 49 (1): 269–75. doi:10.1128/AAC.49.1.269-275.2005. PMC   538877 . PMID   15616305.
8. Wu Z, Cocchi F, Gentles D, Ericksen B, Lubkowski J, Devico A, et al. (January 2005). "Human neutrophil alpha-defensin 4 inhibits HIV-1 infection in vitro". FEBS Letters. 579 (1): 162–6. doi: 10.1016/j.febslet.2004.11.062 . PMID   15620707. S2CID   84062495.
9. Ganz T, Selsted ME, Szklarek D, Harwig SS, Daher K, Bainton DF, Lehrer RI (October 1985). "Defensins. Natural peptide antibiotics of human neutrophils". The Journal of Clinical Investigation. 76 (4): 1427–35. doi:10.1172/JCI112120. PMC   424093 . PMID   2997278.

Further reading

• Szyk A, Wu Z, Tucker K, Yang D, Lu W, Lubkowski J (December 2006). "Crystal structures of human alpha-defensins HNP4, HD5, and HD6". Protein Science. 15 (12): 2749–60. doi:10.1110/ps.062336606. PMC   2242434 . PMID   17088326.
• Mallow EB, Harris A, Salzman N, Russell JP, DeBerardinis RJ, Ruchelli E, Bevins CL (February 1996). "Human enteric defensins. Gene structure and developmental expression". The Journal of Biological Chemistry. 271 (8): 4038–45. doi: 10.1074/jbc.271.8.4038 . PMID   8626737.
• Bevins CL, Jones DE, Dutra A, Schaffzin J, Muenke M (January 1996). "Human enteric defensin genes: chromosomal map position and a model for possible evolutionary relationships". Genomics. 31 (1): 95–106. doi:10.1006/geno.1996.0014. PMID   8808285.
• Gabay JE, Scott RW, Campanelli D, Griffith J, Wilde C, Marra MN, et al. (July 1989). "Antibiotic proteins of human polymorphonuclear leukocytes". Proceedings of the National Academy of Sciences of the United States of America. 86 (14): 5610–4. Bibcode:1989PNAS...86.5610G. doi: 10.1073/pnas.86.14.5610 . PMC   297672 . PMID   2501794.
• Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, et al. (April 2010). "New genetic associations detected in a host response study to hepatitis B vaccine". Genes and Immunity. 11 (3): 232–8. doi: 10.1038/gene.2010.1 . PMID   20237496.
• Kim E, Lee JE, Namkung JH, Kim PS, Kim S, Shin ES, et al. (April 2009). "Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population". Journal of Dermatological Science. 54 (1): 25–30. doi:10.1016/j.jdermsci.2008.12.005. PMID   19135873.
• Milanese M, Segat L, Arraes LC, Garzino-Demo A, Crovella S (March 2009). "Copy number variation of defensin genes and HIV infection in Brazilian children". Journal of Acquired Immune Deficiency Syndromes. 50 (3): 331–3. doi: 10.1097/QAI.0b013e3181945f39 . PMID   19194307. S2CID   33161105.
• Palfree RG, Sadro LC, Solomon S (February 1993). "The gene encoding the human corticostatin HP-4 precursor contains a recent 86-base duplication and is located on chromosome 8". Molecular Endocrinology. 7 (2): 199–205. doi: 10.1210/mend.7.2.8469233 . PMID   8469233. S2CID   13126788.
• Furci L, Sironi F, Tolazzi M, Vassena L, Lusso P (April 2007). "Alpha-defensins block the early steps of HIV-1 infection: interference with the binding of gp120 to CD4". Blood. 109 (7): 2928–35. doi: 10.1182/blood-2006-05-024489 . PMID   17132727.
• Wilde CG, Griffith JE, Marra MN, Snable JL, Scott RW (July 1989). "Purification and characterization of human neutrophil peptide 4, a novel member of the defensin family". The Journal of Biological Chemistry. 264 (19): 11200–3. doi: 10.1016/S0021-9258(18)60449-1 . PMID   2500436.
• Singh A, Bateman A, Zhu QZ, Shimasaki S, Esch F, Solomon S (August 1988). "Structure of a novel human granulocyte peptide with anti-ACTH activity". Biochemical and Biophysical Research Communications. 155 (1): 524–9. doi:10.1016/S0006-291X(88)81118-5. PMID   2843187.
• Konishi K, Gibson KF, Lindell KO, Richards TJ, Zhang Y, Dhir R, et al. (July 2009). "Gene expression profiles of acute exacerbations of idiopathic pulmonary fibrosis". American Journal of Respiratory and Critical Care Medicine. 180 (2): 167–75. doi:10.1164/rccm.200810-1596OC. PMC   2714820 . PMID   19363140.
• Emonts M, Vermont CL, Houwing-Duistermaat JJ, Haralambous E, Gaast-de Jongh CE, Hazelzet JA, et al. (July 2010). "Polymorphisms in PARP, IL1B, IL4, IL10, C1INH, DEFB1, and DEFA4 in meningococcal disease in three populations". Shock. 34 (1): 17–22. doi: 10.1097/SHK.0b013e3181ce2c7d . PMID   20016407. S2CID   21743951.