Homo sapiens Gene: DEFA1
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
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.
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:6977649-6980080
Strand Reverse strand
Band p23.1
Transcripts
ENST00000382692 ENSP00000372139
ENST00000382679 ENSP00000372126
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0002227 innate immune response in mucosa
GO:0006935 chemotaxis
GO:0006952 defense response
GO:0006955 immune response
GO:0019731 antibacterial humoral response
GO:0030520 intracellular estrogen receptor signaling pathway
GO:0031640 killing of cells of other organism
GO:0045087 innate immune response (InnateDB)
GO:0050830 defense response to Gram-positive bacterium
GO:0050832 defense response to fungus
GO:0051607 defense response to virus
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005796 Golgi lumen
GO:0031012 extracellular matrix
GO:0035578 azurophil granule lumen
GO:0070062 extracellular vesicular exosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Defensins pathway
Innate Immune System pathway
Alpha-defensins pathway
Immune System pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cellular roles of Anthrax toxin
Cross-References
SwissProt P59665
TrEMBL
UniProt Splice Variant
Entrez Gene 728358
UniGene
RefSeq NM_004084
HUGO HGNC:2761
OMIM 125220
CCDS CCDS34797
HPRD
IMGT
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