InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DEFA5

Summary

InnateDB Gene

IDBG-6199.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DEFA5

Gene Name

defensin, alpha 5, Paneth cell-specific

Synonyms

DEF5; HD-5

Species

Homo sapiens

Ensembl Gene

ENSG00000164816

Encoded Proteins

IDBP-6201

defensin, alpha 5, Paneth cell-specific

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 19024344

DEFA5 and DEFA6 are two Paneth cell alpha-defensins found in the gut that have multiple functions in the immune system.

PMID 21468224

DEFA5 expression in mice showed significant loss of segmented filamentous bacteria, thus demonstrating a novel role for Paneth cell defensins in intestinal homeostasis by regulating the small intestinal microbiome.

PMID 21560070

DEFA5 is secreted by paneth cells in the small intestine and is secreted in response to cholinergic and microbial stimuli. DEFA5A confer immunity to oral infection by Salmonella and is a major determinant of the small intestinal microbiome composition.

PMID 25433720

NOD2 plays a role in intestinal innate immunity by regulating the expression of DEFA5 and DEFA6 through the NF-kB and MAPK pathways.

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. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Jul 2008]
Defensins are a family of antimicrobial 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. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 8:7055304-7056734

Strand

Reverse strand

Band

p23.1

Transcripts

ENST00000330590

ENSP00000329890

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [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:0006952	defense response
GO:0019731	antibacterial humoral response
GO:0031640	killing of cells of other organism
GO:0045087	innate immune response (InnateDB)
GO:0050832	defense response to fungus

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005796	Golgi lumen
GO:0030133	transport vesicle
GO:0034774	secretory granule lumen

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

Cross-References

SwissProt

Q01523

TrEMBL

UniProt Splice Variant

Entrez Gene

1670

UniGene

Hs.655233

RefSeq

NM_021010

HUGO

HGNC:2764

OMIM

600472

CCDS

CCDS5963

HPRD

IMGT

EMBL

AF238378 BC069690 BC107079 CH471153 M97925

GenPept

AAA35754 AAH69690 AAI07080 AAT68886 EAW80489

RNA Seq Atlas

1670