Defb1 defensin beta 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Defb1provided by MGI
Official Full Name: defensin beta 1provided by MGI
Primary source: MGI:MGI:1096878
See related: Ensembl:ENSMUSG00000044748 AllianceGenome:MGI:1096878
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BD-1
Summary: Predicted to enable CCR6 chemokine receptor binding activity and identical protein binding activity. Involved in innate immune response and response to bacterium. Predicted to be located in membrane; microvesicle; and sperm midpiece. Predicted to be active in extracellular space. Is expressed in epidermis and skin. Human ortholog(s) of this gene implicated in asthma; chronic obstructive pulmonary disease; and lung disease. Orthologous to human DEFB1 (defensin beta 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in kidney adult (RPKM 68.1), liver E18 (RPKM 11.9) and 2 other tissues See more
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Genomic context

Location:: 8 A2; 8 10.35 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (22266571..22285201)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (21776555..21795185)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results found that Foxa2 is involved in the transcriptional regulation of DEFB1, and downregulation of DEFB1 due to suppression of Foxa2 expression is likely to contribute to increased infection risk in the Th2-dominated airway inflammation.
Title: Molecular characterization of pulmonary defenses against bacterial invasion in allergic asthma: The role of Foxa2 in regulation of β-defensin 1.
Fenofibrate and gemfibrozil inhibit LPS-induced inflammatory activation of macrophages via PPARalpha/beta-defensin 1/TLR4 pathway.
Title: PPARα agonists inhibit inflammatory activation of macrophages through upregulation of β-defensin 1.
these studies demonstrate a role for the murine beta-defensin 1 peptide in early control of Candida infection in a murine model of mucosal candidiasis
Title: β-Defensin 1 plays a role in acute mucosal defense against Candida albicans.
Akt1 is involved in the regulation of defensin expression and the innate immune response important for bacterial clearance
Title: Anti-bacterial effects of poly-N-acetyl-glucosamine nanofibers in cutaneous wound healing: requirement for Akt1.
Histopathology showed a greater inflammatory influx in the lungs of mBD-1((-/-)) mice at Day 3 postinfection compared with WT C57BL/6 mice
Title: Modulation of human beta-defensin-1 (hBD-1) in plasmacytoid dendritic cells (PDC), monocytes, and epithelial cells by influenza virus, Herpes simplex virus, and Sendai virus and its possible role in innate immunity.
The decreased production of antimicrobial peptides by burn-site epidermal keratinocytes influenced by Gr-1(+)CD11b(+) cells was shown to be restored by glycyrrhizin.
Title: Pivotal advance: glycyrrhizin restores the impaired production of beta-defensins in tissues surrounding the burn area and improves the resistance of burn mice to Pseudomonas aeruginosa wound infection.
Although both murine beta-defensin (mBD)-1 and mBD2 are constitutively expressed in normal BALB/c and C57BL/6 corneas, mBD-1 is not required for host resistance against Pseudomonas aeruginosa-induced corneal infection.
Title: Beta-defensin-2 promotes resistance against infection with P. aeruginosa.
The expression of BD1 was significantly elevated in the lungs of cigarette smoke-exposed mice compared with air-exposed mice.
Title: Altered expression of antimicrobial molecules in cigarette smoke-exposed emphysematous mice lungs.
Murine beta-defensins-1 and -4 were present in newborn skin.
Title: Neonatal skin in mice and humans expresses increased levels of antimicrobial peptides: innate immunity during development of the adaptive response.
elimination of mBD-1 results in a defect in the ability of the host to clear H. influenzae from the lung, which is most consistent with this peptide functioning as an antibiotic at the airway surface.
Title: beta-Defensin 1 contributes to pulmonary innate immunity in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (2) 1 citation

General gene information

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Markers

PMC108037P1 (e-PCR)
- UniSTS:270132

Defb1 (e-PCR), detects polymorphism
- UniSTS:186509

AW260221 (e-PCR)
- UniSTS:179709

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables CCR6 chemokine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables CCR6 chemokine receptor binding	ISO Inferred from Sequence Orthology more info
enables CCR6 chemokine receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	ISO Inferred from Sequence Orthology more info
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	ISO Inferred from Sequence Orthology more info
involved_in calcium-mediated signaling	ISO Inferred from Sequence Orthology more info
involved_in calcium-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to Gram-negative bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-negative bacterium	ISO Inferred from Sequence Orthology more info
involved_in defense response to Gram-negative bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-positive bacterium	ISO Inferred from Sequence Orthology more info
involved_in defense response to Gram-positive bacterium	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within defense response to bacterium	ISO Inferred from Sequence Orthology more info	PubMed
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response in mucosa	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response in mucosa	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of flagellated sperm motility involved in capacitation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of flagellated sperm motility involved in capacitation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in microvesicle	ISO Inferred from Sequence Orthology more info
located_in microvesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm midpiece	ISO Inferred from Sequence Orthology more info
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: beta-defensin 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.