InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-6085

defensin, alpha 1

IDBP-6164

defensin, alpha 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 19024344

DEFA1 (HNP-1) is a cationic alpha-defensin peptide present in human neutrophils and alpha-defensins have multiple functions in the immune system.

PMID 19897717

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.

PMID 20214904

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.

PMID 22270360

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.

PMID 22268819

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

REACT_115574

Alpha-defensins pathway

REACT_115846

Defensins pathway

REACT_6802

Innate Immune System pathway

REACT_6900

Immune System pathway

KEGG

INOH

PID NCI

anthraxpathway

Cellular roles of Anthrax toxin

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