DEFA6

DEFA6
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1ZMQ, 3QTE
Identifiers
Aliases	DEFA6, DEF6, HD-6, defensin alpha 6
External IDs	OMIM: 600471; MGI: 3711900; HomoloGene: 130499; GeneCards: DEFA6; OMA:DEFA6 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	6,926,076 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	21,556,012 bp
RNA expression pattern
	Top expressed in
	duodenum; ; rectum; ; appendix; ; lymph node; ; body of pancreas; ; skin of abdomen; ; bone marrow; ; right lung; ; gastric mucosa; ; anterior pituitary;
	Top expressed in
	ileum; ; jejunum; ; duodenum; ; colon; ; pancreas; ; thymus; ; esophagus; ; liver; ; stomach; ; kidney;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; protein homodimerization activity;
Cellular component	Golgi lumen; extracellular region; extracellular space;
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
	1671
	100041688
	ENSG00000164822; ENSG00000285136
	ENSMUSG00000061845
	Q01524
	E9QLQ1
	NM_001926
	NM_001177481
	NP_001917
	NP_001170952
	Wikidata
View/Edit Human	View/Edit Mouse

Defensin, alpha 6 (DEFA6) also known as human alpha defensin 6 (HD6) is a human protein that is encoded by the DEFA6 gene.^[5]^[6] DEFA6 is expressed in the Paneth cells of the ileum.^[7]

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.^[8] However, HD6 affords protection against invasion by enteric bacterial pathogens by self-assembly to form fibrils and nanonets that surround and entangle bacteria.^[9]

Several alpha defensin genes, including DEFA6, are clustered on chromosome 8.^[5]

References

^ ^a ^b ^c ENSG00000285136 GRCh38: Ensembl release 89: ENSG00000164822, ENSG00000285136 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000061845 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: DEFA6 defensin, alpha 6, Paneth cell-specific (Homo sapiens)".
^ 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.
^ 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.
^ 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.
^ 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. PMID 22722251.

Function

References

Further reading