• Gene id: 1672

Gene Summary

• Gene Symbol: DEFB1   Gene   UCSC   Ensembl
• Aliases: BD1, DEFB-1, DEFB101, HBD1
• Gene name: defensin beta 1
• Alternate names: beta-defensin 1, BD-1,
• Gene location: 8p23.1 (6877935: 6870591)     Exons: 2     NC_000008.11
• Gene summary(Entrez): 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 epithel
• OMIM: 602056

Protein Summary

• Protein general information: P60022  
  • Name: Beta defensin 1 (BD 1) (hBD 1) (Defensin, beta 1)
  • Length: 68  
  • Mass: 7420
  • 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). {ECO
• Sequence:

  MRTSYLLLFTLCLLLSEMASGGNFLTGLGHRSDHYNCVSSGGQCLYSACPIFTKIQGTCYRGKAKCCK

• Structural information:
  • Interpro: IPR001855  
  • PDB: 1E4S 1IJU 1IJV 1KJ5 2NLB 2NLC 2NLD 2NLE 2NLF 2NLG 2NLH 2NLP 2NLQ 2NLS 2PLZ
  • PDBsum: 1E4S 1IJU 1IJV 1KJ5 2NLB 2NLC 2NLD 2NLE 2NLF 2NLG 2NLH 2NLP 2NLQ 2NLS 2PLZ
  • STRING: ENSP00000297439
• Other Databases: GeneCards:  DEFB1  Malacards:  DEFB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0019933	cAMP-mediated signaling	IDA	biological process
GO:0031731	CCR6 chemokine receptor binding	IDA	molecular function
GO:0035584	calcium-mediated signaling using intracellular calcium source	IDA	biological process
GO:0097225	sperm midpiece	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:1990742	microvesicle	IDA	cellular component
GO:0050830	defense response to Gram-positive bacterium	IMP	biological process
GO:0060474	positive regulation of flagellated sperm motility involved in capacitation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050829	defense response to Gram-negative bacterium	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006952	defense response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006952	defense response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042742	defense response to bacterium	IEA	biological process
GO:0006955	immune response	TAS	biological process
GO:0006935	chemotaxis	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0042742	defense response to bacterium	IMP	biological process
GO:0019730	antimicrobial humoral response	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0009617	response to bacterium	IDA	biological process
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0002227	innate immune response in mucosa	IDA	biological process
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	biological process
GO:0045087	innate immune response	NAS	biological process
GO:0045087	innate immune response	ISS	biological process
GO:0009617	response to bacterium	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05150	Staphylococcus aureus infection
hsa02010	ABC transporters

Diseases

Associated diseases	References
pulmonary alveolar proteinosis	PMID:17000097
pulmonary sarcoidosis	PMID:17000097
Asthma	PMID:15696078
Chronic obstructive pulmonary disease	PMID:15569478
Pulmonary fibrosis	PMID:17000097
Lung disease	PMID:15463886
Lung disease	PMID:21077791
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881