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  3. DEFB1

DEFB1 (Defensin beta 1)

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Summary of DEFB1

This gene encodes a protein that helps fight against microbial infections. It is associated with risk for cystic fibrosis (R). 

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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 1

Short name:

BD-1

Alternative name(s):

hBD-1
Defensin, beta 1

DEFB1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1047031 (DEFB1) ??
  2. RS11362 (DEFB1) ??
  3. RS1799946 (DEFB1) ??
  4. RS1800972 (DEFB1) ??
  5. RS2702888 (DEFB1) ??

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

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • p53
  • NF-kappaB1
  • C/EBPalpha

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:

  • Immune System

Molecular Function:

  • Ccr6 Chemokine Receptor Binding

Biological Processes:

  • Acute Inflammatory Response
  • Antibacterial Humoral Response
  • Calcium-Mediated Signaling Using Intracellular Calcium Source
  • Camp-Mediated Signaling
  • Chemotaxis
  • Defense Response To Bacterium
  • Defense Response To Gram-Negative Bacterium
  • Defense Response To Gram-Positive Bacterium
  • G-Protein Coupled Receptor Signaling Pathway
  • Immune Response
  • Innate Immune Response
  • Innate Immune Response In Mucosa
  • Positive Regulation Of Flagellated Sperm Motility Involved In Capacitation
  • Response To Bacterium
  • Response To Testosterone
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

BD1| BD-1| beta defensin 1| beta-defensin 1| beta defensin-1 homolog| beta-defensin 1 preproprotein| BNBD-1| CB1_000350064| cBD1| CDK4| DEFB-1| DEFB101| DEFB1-like| DEFB1-like protein| defensin 14| defensin, beta 1| EGK_18655| HBD1| PANDA_020330| PBD1| PBD-1| prepro-beta-defensin 1| rBD-1| RHBD-1| defb1

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