HUMAN:DEFB1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	DEFB1 (synonyms: BD1, HBD1)
Protein Name(s)	Beta-defensin 1 BD-1 hBD-1 Defensin, beta 1
External Links
UniProt	P60022
EMBL	U50931 U50930 X92744 U73945 BC033298 BC047677 Z50788
CCDS	CCDS5959.1
PIR	S66282
RefSeq	NP_005209.1
UniGene	Hs.32949
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
ProteinModelPortal	P60022
SMR	P60022
BioGrid	108036
IntAct	P60022
MINT	MINT-5306206
STRING	9606.ENSP00000297439
TCDB	1.C.85.1.1
BioMuta	DEFB1
DMDM	38503374
PaxDb	P60022
PeptideAtlas	P60022
PRIDE	P60022
DNASU	1672
Ensembl	ENST00000297439
GeneID	1672
KEGG	hsa:1672
UCSC	uc003wqs.4
CTD	1672
DisGeNET	1672
GeneCards	DEFB1
HGNC	HGNC:2766
MIM	602056
neXtProt	NX_P60022
OpenTargets	ENSG00000164825
PharmGKB	PA27243
eggNOG	ENOG410J7H1 ENOG41119QC
GeneTree	ENSGT00390000017014
HOGENOM	HOG000112188
HOVERGEN	HBG084156
InParanoid	P60022
OMA	KIQGTCY
OrthoDB	EOG091G18L0
PhylomeDB	P60022
Reactome	[www.reactome.org/content/detail/R-HSA-1461957 R-HSA-1461957] [www.reactome.org/content/detail/R-HSA-1461973 R-HSA-1461973]
EvolutionaryTrace	P60022
GeneWiki	Defensin,_beta_1
GenomeRNAi	1672
PMAP-CutDB	P60022
PRO	PR:P60022
Proteomes	UP000005640
Bgee	ENSG00000164825
CleanEx	HS_DEFB1
Genevisible	P60022
GO	GO:0070062 GO:0005576 GO:0005615 GO:0005796 GO:0097225 GO:0031731 GO:0002526 GO:0019731 GO:0019730 GO:0035584 GO:0019933 GO:0006935 GO:0042742 GO:0050829 GO:0050830 GO:0007186 GO:0006955 GO:0045087 GO:0002227 GO:0060474 GO:0009617 GO:0033574
InterPro	IPR001855
Pfam	PF00711

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
part_of	GO:0019898	extrinsic component of membrane	PMID:23938203^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0019933	cAMP-mediated signaling	PMID:25122636^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0031731	CCR6 chemokine receptor binding	PMID:25122636^[2]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0035584	calcium-mediated signaling using intracellular calcium source	PMID:25122636^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050830	defense response to Gram-positive bacterium	PMID:25122636^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050829	defense response to Gram-negative bacterium	PMID:25122636^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060474	positive regulation of flagellated sperm motility involved in capacitation	PMID:25122636^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	PMID:25122636^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	part_of:(UBERON:0001968)	Seeded From UniProt	complete
involved_in	GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	PMID:12860195^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0097225	sperm midpiece	PMID:25122636^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:23938203^[1]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:1990742	microvesicle	PMID:23938203^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:23533145^[4]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0050830	defense response to Gram-positive bacterium	PMID:12860195^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	occurs_in:(UBERON:0000317)	Seeded From UniProt	complete
involved_in	GO:0019731	antibacterial humoral response	PMID:12860195^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	occurs_in:(UBERON:0000317)	Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:12860195^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0000317)	Seeded From UniProt	complete
involved_in	GO:0002227	innate immune response in mucosa	PMID:12860195^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	occurs_in:(UBERON:0000317)	Seeded From UniProt	complete
involved_in	GO:0045087	innate immune response	PMID:12517831^[5]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045087	innate immune response	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P56386	P		Seeded From UniProt	complete
involved_in	GO:0009617	response to bacterium	PMID:12054642^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0009617	response to bacterium	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P56386	P		Seeded From UniProt	complete
involved_in	GO:0042742	defense response to bacterium	PMID:21115716^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:21115716^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001855	C		Seeded From UniProt	complete
involved_in	GO:0006952	defense response	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001855	P		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:7628632^[8]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001969)	Seeded From UniProt	complete
involved_in	GO:0007186	G protein-coupled receptor signaling pathway	PMID:10521347^[9]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006955	immune response	PMID:10521347^[9]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006935	chemotaxis	PMID:10521347^[9]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0019730	antimicrobial humoral response	Reactome:R-HSA-6803157	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005796	Golgi lumen	Reactome:R-HSA-1471322 Reactome:R-HSA-1462023	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	Reactome:R-HSA-1471338	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0042742	defense response to bacterium	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0044	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472 UniProtKB-SubCell:SL-0162	C		Seeded From UniProt	complete
involved_in	GO:0006952	defense response	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0211	P		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0964 UniProtKB-SubCell:SL-0243	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 De Paula, VS et al. (2013) Structural basis for the interaction of human β-defensin 6 and its putative chemokine receptor CCR2 and breast cancer microvesicles. J. Mol. Biol. 425 4479-95 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 ^2.7 Diao, R et al. (2014) Deficient human β-defensin 1 underlies male infertility associated with poor sperm motility and genital tract infection. Sci Transl Med 6 249ra108 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 Tollin, M et al. (2003) Antimicrobial peptides in the first line defence of human colon mucosa. Peptides 24 523-30 PubMed GONUTS page
↑ Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page
↑ Jurevic, RJ et al. (2003) Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J. Clin. Microbiol. 41 90-6 PubMed GONUTS page
↑ Circo, R et al. (2002) Structural and functional characterization of hBD-1(Ser35), a peptide deduced from a DEFB1 polymorphism. Biochem. Biophys. Res. Commun. 293 586-92 PubMed GONUTS page
↑ ^7.0 ^7.1 Augustin, DK et al. (2011) Role of defensins in corneal epithelial barrier function against Pseudomonas aeruginosa traversal. Infect. Immun. 79 595-605 PubMed GONUTS page
↑ Bensch, KW et al. (1995) hBD-1: a novel beta-defensin from human plasma. FEBS Lett. 368 331-5 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Yang, D et al. (1999) Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6. Science 286 525-8 PubMed GONUTS page

[PMID:23938203-1] 1.0 ^1.1 ^1.2 De Paula, VS et al. (2013) Structural basis for the interaction of human β-defensin 6 and its putative chemokine receptor CCR2 and breast cancer microvesicles. J. Mol. Biol. 425 4479-95 PubMed GONUTS page

[PMID:25122636-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 ^2.7 Diao, R et al. (2014) Deficient human β-defensin 1 underlies male infertility associated with poor sperm motility and genital tract infection. Sci Transl Med 6 249ra108 PubMed GONUTS page

[PMID:12860195-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 Tollin, M et al. (2003) Antimicrobial peptides in the first line defence of human colon mucosa. Peptides 24 523-30 PubMed GONUTS page

[PMID:23533145-4] Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page

[PMID:12517831-5] Jurevic, RJ et al. (2003) Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J. Clin. Microbiol. 41 90-6 PubMed GONUTS page

[PMID:12054642-6] Circo, R et al. (2002) Structural and functional characterization of hBD-1(Ser35), a peptide deduced from a DEFB1 polymorphism. Biochem. Biophys. Res. Commun. 293 586-92 PubMed GONUTS page

[PMID:21115716-7] 7.0 ^7.1 Augustin, DK et al. (2011) Role of defensins in corneal epithelial barrier function against Pseudomonas aeruginosa traversal. Infect. Immun. 79 595-605 PubMed GONUTS page

[PMID:7628632-8] Bensch, KW et al. (1995) hBD-1: a novel beta-defensin from human plasma. FEBS Lett. 368 331-5 PubMed GONUTS page

[PMID:10521347-9] 9.0 ^9.1 ^9.2 Yang, D et al. (1999) Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6. Science 286 525-8 PubMed GONUTS page

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HUMAN:DEFB1

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