Defa1 defensin, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: Defa1provided by MGI
Official Full Name: defensin, alpha 1provided by MGI
Primary source: MGI:MGI:94880
See related: AllianceGenome:MGI:94880
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Defcr; Defcr1
Summary: Predicted to enable pore-forming activity and protein homodimerization activity. Acts upstream of or within response to bacterium and response to xenobiotic stimulus. Located in extracellular space. Is expressed in crypt of Lieberkuhn of jejunum; ileum; and intestine. Orthologous to several human genes including DEFA1 (defensin alpha 1); DEFA1B (defensin alpha 1B); and DEFA3 (defensin alpha 3). [provided by Alliance of Genome Resources, Dec 2024]
Annotation information: not in current annotation release
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Genomic context

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Location:: 8 A2; 8

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The authors show that the antimicrobial peptide alpha-defensin is functionally sustained during nutrient deprivation because of regulation of the defensin-processing enzyme MMP7 by microbiota- and host-derived factors. Sustained Mmp7 expression requires the microbiota and is mediated by de-repression of the transcription activator Atoh1 upon attenuation of the transcriptional repressor Hes1 in intestinal epithelial cells.
Title: Nutrient Sensing by the Intestinal Epithelium Orchestrates Mucosal Antimicrobial Defense via Translational Control of Hes1.
we engineered a monoclonal antibody against HNP-1 to block the interaction with P2X7 and found that the blocking antibody protected mice carrying high copy number of DEFA1/DEFA3 from lethal sepsis. We thus demonstrate that DEFA1/DEFA3 copy number variation strongly modulates sepsis development in vivo and explore a paradigm for the precision treatment of sepsis tailored by individual genetic information.
Title: Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis.
Mouse adenovirus 2 infection was enhanced by enteric alpha-defensins.
Title: Alpha-defensin-dependent enhancement of enteric viral infection.
Decreased alpha-defensin is associated with intestinal inflammation in a model of inflammatory bowel disease.
Title: Expression of the antimicrobial peptide alpha-defensin/cryptdins in intestinal crypts decreases at the initial phase of intestinal inflammation in a model of inflammatory bowel disease, IL-10-deficient mice.
the Arg5-Glu13 salt bridge in alpha-defensin is conserved for defensin in vivo stability
Title: Why is the Arg5-Glu13 salt bridge conserved in mammalian alpha-defensins?
MMP-7 activates mouse paneth cell pro-alpha-defensins
Title: Matrix metalloproteinase-7 activation of mouse paneth cell pro-alpha-defensins: SER43 down arrow ILE44 proteolysis enables membrane-disruptive activity.
cryptdin-1 and cryptdin-4 exhibit circadian oscillation
Title: Mouse intestinal cryptdins exhibit circadian oscillation.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:491305

Defa1 (e-PCR), detects polymorphism
- UniSTS:526992

Defcr17 (e-PCR), detects polymorphism
- UniSTS:186513

Defcr3 (e-PCR), detects polymorphism
- UniSTS:186514

Defcr (e-PCR), detects polymorphism
- UniSTS:142843

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables pore-forming activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to lipopolysaccharide	IGI Inferred from Genetic Interaction more info	PubMed
involved_in defense response to Gram-negative bacterium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within defense response to Gram-negative bacterium	IGI Inferred from Genetic Interaction more info	PubMed
involved_in defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within defense response to Gram-positive bacterium	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in disruption of plasma membrane integrity in another organism	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response in mucosa	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alpha-defensin 1

Names: cryptdin-1; defensin related cryptdin peptide 1; defensin-1; defensin-related cryptdin peptide

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.

mRNA and Protein(s)

NM_010031.2 → NP_034161.2 alpha-defensin 1 precursor

See identical proteins and their annotated locations for NP_034161.2

Status: PROVISIONAL

Source sequence(s)

M33225

UniProtKB/Swiss-Prot

P11477, P50714, Q61448

Conserved Domains (2) summary

pfam00323
Location:64 → 92

Defensin_1; Mammalian defensin

pfam00879
Location:15 → 51

Defensin_propep; Defensin propeptide