DEFB1 (defensin beta 1)

Gene

• Entrez ID: 1672
• Gene name: Defensin beta 1
• Gene symbol: DEFB1
• Synonyms: BD1, DEFB-1, DEFB101, HBD1
• Chromosome: 8
• Chromosome location: 8p23.1
• Summary: 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]

Transcription factors

Transcription factor	Regulation	Reference
HDAC1	Unknown	23185513

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002227	Process	Innate immune response in mucosa	IBA	21873635
GO:0002227	Process	Innate immune response in mucosa	IDA	12860195
GO:0005515	Function	Protein binding	IPI	25122636, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	12860195, 21115716
GO:0005796	Component	Golgi lumen	TAS
GO:0006935	Process	Chemotaxis	TAS	10521347
GO:0006955	Process	Immune response	TAS	10521347
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	10521347
GO:0009617	Process	Response to bacterium	IDA	12054642
GO:0009617	Process	Response to bacterium	ISS
GO:0019730	Process	Antimicrobial humoral response	TAS
GO:0019731	Process	Antibacterial humoral response	IDA	12860195
GO:0019898	Component	Extrinsic component of membrane	IDA	23938203
GO:0019933	Process	CAMP-mediated signaling	IDA	25122636
GO:0031731	Function	CCR6 chemokine receptor binding	IBA	21873635
GO:0031731	Function	CCR6 chemokine receptor binding	IDA	25122636
GO:0035584	Process	Calcium-mediated signaling using intracellular calcium source	IDA	25122636
GO:0042742	Process	Defense response to bacterium	IMP	21115716
GO:0042802	Function	Identical protein binding	IDA	23938203
GO:0045087	Process	Innate immune response	ISS
GO:0045087	Process	Innate immune response	NAS	12517831
GO:0050829	Process	Defense response to Gram-negative bacterium	IBA	21873635
GO:0050829	Process	Defense response to Gram-negative bacterium	IMP	25122636
GO:0050830	Process	Defense response to Gram-positive bacterium	IBA	21873635
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	12860195
GO:0050830	Process	Defense response to Gram-positive bacterium	IMP	25122636
GO:0060474	Process	Positive regulation of flagellated sperm motility involved in capacitation	IMP	25122636
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	12860195
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IMP	25122636
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097225	Component	Sperm midpiece	IDA	25122636
GO:1990742	Component	Microvesicle	IDA	23938203

Other IDs

• MIM: 602056
• HGNC: 2766
• e!Ensembl: ENSG00000164825

Protein

• UniProt ID: P60022
• Protein name: Beta-defensin 1 (BD-1) (hBD-1) (Defensin, beta 1)
• Protein function: 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).
• PDB: 1E4S, 1IJU, 1IJV, 1KJ5, 2NLB, 2NLC, 2NLD, 2NLE, 2NLF, 2NLG, 2NLH, 2NLP, 2NLQ, 2NLS, 2PLZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00711	Defensin_beta	33 → 68	Beta defensin	Domain

• Sequence:

  MRTSYLLLFTLCLLLSEMASGGNFLTGLGHRSDHYNCVSSGGQCLYSACPIFTKIQGTCY
  RGKAKCCK

• Sequence length: 68