Homo sapiens Gene: DEFA1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-6083.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DEFA1 | ||||||||||||||||||||||
Gene Name | defensin, alpha 1 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000206047 | ||||||||||||||||||||||
Encoded Proteins |
defensin, alpha 1
defensin, alpha 1
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
InnateDB Annotation | |||||||||||||||||||||||
Summary |
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.
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Entrez Gene | |||||||||||||||||||||||
Summary |
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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 8:6977649-6980080 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | p23.1 | ||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||||||
Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Alpha-defensins pathway
Defensins pathway
Innate Immune System pathway
Immune System pathway
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KEGG | |||||||||||||||||||||||
INOH | |||||||||||||||||||||||
PID NCI |
Cellular roles of Anthrax toxin
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | |||||||||||||||||||||||
RefSeq | NM_004084 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS34797 | ||||||||||||||||||||||
HPRD | 00499 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||