DEFA6

Defensin, alpha 6 (DEFA6) also known as human alpha defensin 6 (HD6) is a human protein that is encoded by the DEFA6 gene.[3][4] DEFA6 is expressed in the Paneth cells of the ileum.[5]

DEFA6
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1ZMQ, 3QTE
Identifiers
Aliases	DEFA6, DEF6, HD-6, defensin alpha 6
External IDs	OMIM: 600471 HomoloGene: 130499 GeneCards: DEFA6
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p23.1 Start 6,924,697 bp[1] End 6,926,076 bp[1]
Gene ontology Molecular function • GO:0001948 protein binding • protein homodimerization activity Cellular component • Golgi lumen • extracellular region • extracellular Biological process • defense response • defense response to bacterium • defense response to fungus • antimicrobial humoral response • antimicrobial humoral immune response mediated by antimicrobial peptide • killing of cells of other organism • 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	1671	n/a
Ensembl	ENSG00000164822 ENSG00000285136	n/a
UniProt	Q01524	n/a
RefSeq (mRNA)	NM_001926	n/a
RefSeq (protein)	NP_001917	n/a
Location (UCSC)	Chr 8: 6.92 – 6.93 Mb	n/a
PubMed search	[2]	n/a
Wikidata
View/Edit Human

Function

The alpha defensins are a family of microbicidal and cytotoxic peptides that defend the host against bacteria and viruses. HD6 has poor antibacterial potency.[6] However, HD6 affords protection against invasion by enteric bacterial pathogens by self-assembly to form fibrils and nanonets that surround and entangle bacteria.[7]

Several alpha defensin genes, including DEFA6, are clustered on chromosome 8.[3]

References

1. ENSG00000285136 GRCh38: Ensembl release 89: ENSG00000164822, ENSG00000285136 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Entrez Gene: DEFA6 defensin, alpha 6, Paneth cell-specific (Homo sapiens)".
4. Jones DE, Bevins CL (January 1993). "Defensin-6 mRNA in human Paneth cells: implications for antimicrobial peptides in host defense of the human bowel". FEBS Lett. 315 (2): 187–92. doi:10.1016/0014-5793(93)81160-2. PMID 8417977.
5. Zhao C, Wang I, Lehrer RI (24 Nov 1996). "Widespread expression of beta-defensin hBD-1 in human secretory glands and epithelial cells". FEBS Lett. 396 (2–3): 319–22. doi:10.1016/0014-5793(96)01123-4. PMID 8915011.
6. Ericksen B, Wu Z, Lu W, Lehrer RI (2005). "Antibacterial Activity and Specificity of the Six Human α-Defensins". Antimicrob. Agents Chemother. 49 (1): 269–75. doi:10.1128/AAC.49.1.269-275.2005. PMC 538877. PMID 15616305.
7. Chu H, Pazgier M, Jung G, Nuccio SP, Castillo PA, de Jong MF, Winter MG, Winter SE, Wehkamp J, Shen B, Salzman NH, Underwood MA, Tsolis RM, Young GM, Lu W, Lehrer RI, Bäumler AJ, Bevins CL (2012). "Human α-Defensin 6 Promotes Mucosal Innate Immunity Through Self-Assembled Peptide Nanonets". Science. 337 (6093): 477–81. doi:10.1126/science.1218831. PMC 4332406. PMID 22722251.

Further reading

• Szyk A, Wu Z, Tucker K, et al. (2006). "Crystal structures of human α-defensins HNP4, HD5, and HD6". Protein Sci. 15 (12): 2749–60. doi:10.1110/ps.062336606. PMC 2242434. PMID 17088326.
• Wu Z, Ericksen B, Tucker K, et al. (2004). "Synthesis and characterization of human alpha-defensins 4-6". J Pept Res. 64 (3): 118–25. doi:10.1111/j.1399-3011.2004.00179.x. PMID 15317502.
• Mallow EB, Harris A, Salzman N, et al. (1996). "Human enteric defensins. Gene structure and developmental expression". J. Biol. Chem. 271 (8): 4038–45. doi:10.1074/jbc.271.8.4038. PMID 8626737.
• Bevins CL, Jones DE, Dutra A, et al. (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.
• Eisenhauer PB, Harwig SS, Lehrer RI (September 1992). "Cryptdins: antimicrobial defensins of the murine small intestine". Infect. Immun. 60 (9): 3556–65. PMC 257361. PMID 1500163.
• Huttner KM, Selsted ME, Ouellette AJ (February 1994). "Structure and diversity of the murine cryptdin gene family". Genomics. 19 (3): 448–53. doi:10.1006/geno.1994.1093. PMID 8188287.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Human Defensin-6