Summary of DEFB1
This gene encodes a protein that helps fight against microbial infections. It is associated with risk for cystic fibrosis (R).
The Function of DEFB1
Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:25122636).
Protein names
Recommended name:
Beta-defensin 1Short name:
BD-1Alternative name(s):
hBD-1Defensin, beta 1
- RS1047031 (DEFB1) ??
- RS11362 (DEFB1) ??
- RS1799946 (DEFB1) ??
- RS1800972 (DEFB1) ??
- RS2702888 (DEFB1) ??
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Top Gene-Substance Interactions
DEFB1 Interacts with These Diseases
| Disease | Score |
Substances That Increase DEFB1
| Substances | Interaction | Organism | Category |
Substances That Decrease DEFB1
| Substances | Interaction | Organism | Category |
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Blood plasma. Sperm. Highly expressed in the lower head and midpiece of sperm. Significantly reduced levels found in the sperms of asthenozoospermia and leukocytospermia patients (at protein level).
Gene Pathways:
Molecular Function:
Biological Processes:
- Innate Immune Response In Mucosa
- Acute Inflammatory Response
- Chemotaxis
- Immune Response
- G-Protein Coupled Receptor Signaling Pathway
- Response To Bacterium
- Antibacterial Humoral Response
- Camp-Mediated Signaling
- Response To Testosterone
- Calcium-Mediated Signaling Using Intracellular Calcium Source
- Defense Response To Bacterium
- Innate Immune Response
- Defense Response To Gram-Negative Bacterium
- Defense Response To Gram-Positive Bacterium
- Positive Regulation Of Flagellated Sperm Motility Involved In Capacitation