|Homo sapiens Gene: DEFA1|
|Last Modified||2014-10-13 [Report errors or provide feedback]|
|Gene Name||defensin, alpha 1|
defensin, alpha 1
defensin, alpha 1
|Useful resources||Stemformatics EHFPI ImmGen|
DEFA1 (HNP-1) is a cationic alpha-defensin peptide present in human neutrophils and alpha-defensins have multiple functions in the immune system.
Defensins, such as DEFA1, contribute to innate immunity through diverse actions, including microbial killing and high concentrations are present in the lung in response to inflammation.
DEFA1, an alpha-defensin, binds to the cell wall precursor lipid II and reduction of lipid II levels in the bacterial membrane significantly reduces bacterial killing, suggesting that the inhibition of cell wall synthesis is a novel antibacterial mechanism of this important class of host defence peptides.
The dimerization of DEFA1 is crucial for the ability of the alpha defensin to kill S. aureus, inhibit anthrax lethal factor and bind HIV-1 protein gp120.
DEFA1 activates platelets and induces the formation of amyloid-like proteins, which entrap bacteria and fungi.
Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, May 2010]
|Genomic Location||Chromosome 8:6977649-6980080|
|Number of Interactions||
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
|No orthologs found for this gene|
Innate Immune System pathway
Immune System pathway
Cellular roles of Anthrax toxin
|UniProt Splice Variant|
|EMBL||AF200455 AF238378 BC069423 BC093791 BC112188 L12690 M21130 M26602 X52053|
|GenPept||AAA36382 AAA52302 AAA52303 AAH69423 AAH93791 AAI12189 AAT68875 AAT68878 AAT68879 AAT68880 AAT68883 AAT68884 CAA36280|
|RNA Seq Atlas||1667 728358|