InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DEFB1

Summary

InnateDB Gene

IDBG-5986.6

Last Modified

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

Gene Symbol

DEFB1

Gene Name

defensin, beta 1

Synonyms

BD1; DEFB-1; DEFB101; HBD1

Species

Homo sapiens

Ensembl Gene

ENSG00000164825

Encoded Proteins

IDBP-5988

defensin, beta 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 21248850

DEFB1 is ubiquitiously expressed by all human epithelial cells, and upon reduction of the disulfide-bridges DEFB1 becomes a potent antimicrobial peptide against opportunistic pathogenic fungi and anaerobic Gram+ bacteria.

PMID 21551252

DEFB1 is upregulated in plasmacytoid dendritic cells and monocytes during viral challenge. Defb1-deficient mice infected with mouse-adapted HK18 (influenza) lost weight earlier and died sooner than WT mice, suggesting that Defb1 plays a role in early innate immune responses against influenza in vivo. However, lung virus titers were equal between the two mouse strains, indicating that the mechanism is not related to viral replication.

PMID 22102811

DEFB1 is a component of platelets that displays classic antimicrobial activity and signals polymorphonuclear leukocytes to extrude DNA lattices that capture and kill bacteria.

Entrez Gene

Summary

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 8:6870575-6878022

Strand

Reverse strand

Band

p23.1

Transcripts

ENST00000297439

ENSP00000297439

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [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:0002526	acute inflammatory response
GO:0006935	chemotaxis
GO:0006952	defense response
GO:0006955	immune response
GO:0007186	G-protein coupled receptor signaling pathway
GO:0009617	response to bacterium
GO:0019731	antibacterial humoral response
GO:0033574	response to testosterone
GO:0045087	innate immune response (InnateDB)
GO:0050830	defense response to Gram-positive bacterium

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005796	Golgi lumen
GO:0070062	extracellular vesicular exosome

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

REACT_115897

Beta defensins pathway

REACT_115846

Defensins pathway

REACT_6802

Innate Immune System pathway

REACT_6900

Immune System pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

P60022

TrEMBL

UniProt Splice Variant

Entrez Gene

1672

UniGene

RefSeq

NM_005218

HUGO

HGNC:2766

OMIM

602056

CCDS

CCDS5959

HPRD

IMGT

EMBL

BC033298 BC047677 U50930 U50931 U73945 X92744 Z50788

GenPept

AAB49758 AAC51728 AAH33298 AAH47677 CAA63405 CAA90650

RNA Seq Atlas

1672