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; ; mucosa of transverse colon; ; appendix; ; lymph node; ; body of pancreas; ; skin of abdomen; ; bone marrow; ; right lung; ; gastric mucosa;
	Top expressed in
	ileum; ; jejunum; ; duodenum; ; embryo; ; colon; ; pancreas; ; thymus; ; esophagus; ; liver; ; stomach;
	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

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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 Letters. 315 (2): 187–92. doi:10.1016/0014-5793(93)81160-2. PMID 8417977. S2CID 45099115.
^ Zhao C, Wang I, Lehrer RI (November 1996). "Widespread expression of beta-defensin hBD-1 in human secretory glands and epithelial cells". FEBS Letters. 396 (2–3): 319–22. doi:10.1016/0014-5793(96)01123-4. PMID 8915011. S2CID 22367037.
^ 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.
^ Chu H, Pazgier M, Jung G, Nuccio SP, Castillo PA, de Jong MF, et al. (July 2012). "Human α-defensin 6 promotes mucosal innate immunity through self-assembled peptide nanonets". Science. 337 (6093): 477–81. Bibcode:2012Sci...337..477C. doi:10.1126/science.1218831. PMC 4332406. PMID 22722251.

External links

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

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] ENSG00000285136 GRCh38: Ensembl release 89: ENSG00000164822, ENSG00000285136 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: DEFA6 defensin, alpha 6, Paneth cell-specific (Homo sapiens)".

[pmid8417977-6] 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 Letters. 315 (2): 187–92. doi:10.1016/0014-5793(93)81160-2. PMID 8417977. S2CID 45099115.

[pmid8915011-7] Zhao C, Wang I, Lehrer RI (November 1996). "Widespread expression of beta-defensin hBD-1 in human secretory glands and epithelial cells". FEBS Letters. 396 (2–3): 319–22. doi:10.1016/0014-5793(96)01123-4. PMID 8915011. S2CID 22367037.

[pmid15616305-8] 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.

[pmid22722251-9] Chu H, Pazgier M, Jung G, Nuccio SP, Castillo PA, de Jong MF, et al. (July 2012). "Human α-defensin 6 promotes mucosal innate immunity through self-assembled peptide nanonets". Science. 337 (6093): 477–81. Bibcode:2012Sci...337..477C. doi:10.1126/science.1218831. PMC 4332406. PMID 22722251.

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Function

References

Further reading

External links