DEFA5 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DEFA5 |
| Official Name | defensin alpha 5 [Source:HGNC Symbol;Acc:HGNC:2764] |
| Ensembl ID | ENSG00000164816 |
| Bio databases IDs | |
| Aliases | defensin alpha 5 |
| Synonyms | DEF5, DEFENSIN 5, defensin alpha 5, defensin α 5, HD-5 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DEFA5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mammalian defensin
- Defensin propeptide
- protein homodimerization
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Barrett syndrome
- diarrhea
- necrotizing enterocolitis
role in cell
- apoptosis
- quantity
- replication in
- inhibition
- mobilization
- neutralization in
- chemotaxis
- lysis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Golgi lumen
- intracellular membrane-bounded organelle
- secretory granule lumen
- midbody
- granules
- secretory granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DEFA5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- defense response to Gram-negative bacterium
- killing by host of symbiont cells
- membrane disruption in other organism
- positive regulation of interleukin-8 production
- protein homotetramerization
- innate immune response in mucosa
- cellular response to lipopolysaccharide
- innate immune response
- killing of cells of other organism
- antibacterial humoral response
- defense response to fungus
- defense response to Gram-positive bacterium
Cellular Component
Where in the cell the gene product is active
- extracellular space
- intracellular membrane-bounded organelle
- secretory granule
- secretory granule lumen
- midbody
- transport vesicle
- extracellular region
- Golgi lumen
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity