DEFB1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DEFB1 |
| Official Name | defensin beta 1 [Source:HGNC Symbol;Acc:HGNC:2766] |
| Ensembl ID | ENSG00000164825 |
| Bio databases IDs | |
| Aliases | defensin beta 1, beta-defensin 1, beta defensin 1 |
| Synonyms | BD-1, Beta defensin1, CDK4, DEFB101, defensin beta 1, defensin β 1, defensin, β 1, HBD1, β defensin1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 DEFB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CCR chemokine receptor binding
- double-stranded DNA binding
- Beta defensin
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the DEFB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- psoriasis
- atopic dermatitis
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- prostate cancer
- Wilms tumor
- Wilms tumorigenesis
- acne vulgaris
- HER2 negative hormone receptor negative breast cancer
role in cell
- expression in
- apoptosis
- proliferation
- cell death
- formation
- chemotaxis
- migration
- survival
- growth
- killing
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
- microvesicles
- cellular membrane
- sperm midpiece
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DEFB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of sperm motility involved in capacitation
- defense response to Gram-negative bacterium
- G-protein coupled receptor signaling pathway
- defense response to bacterium
- chemotaxis
- response to bacterium
- innate immune response in mucosa
- immune response
- innate immune response
- antibacterial humoral response
- calcium-mediated signaling
- defense response to Gram-positive bacterium
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- sperm midpiece
- membrane
- Golgi lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- CCR6 chemokine receptor binding