HUMAN:DEF1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	DEFA1B (synonyms: DEF1, DEFA2, MRS)
Protein Name(s)	Neutrophil defensin 1 Defensin, alpha 1 HNP-1 HP-1 HP1 HP 1-56 Neutrophil defensin 2 HNP-2 HP-2 HP2
External Links
UniProt	P59665
EMBL	M21130 M26602 L12690 X52053 AF200455 AF200455 AF200455 AF200455 AF238378 AF238378 BC069423 BC093791 BC112188
CCDS	CCDS34797.1 CCDS43691.1
PIR	S32499
RefSeq	NP_001035965.1 NP_004075.1
UniGene	Hs.380781
PDB	2KHT 2PM1 3GNY 3H6C 3HJ2 3HJD 3LO1 3LO2 3LO4 3LO6 3LO9 3LOE 3LVX 4DU0 4LB1 4LB7 4LBB 4LBF
PDBsum	2KHT 2PM1 3GNY 3H6C 3HJ2 3HJD 3LO1 3LO2 3LO4 3LO6 3LO9 3LOE 3LVX 4DU0 4LB1 4LB7 4LBB 4LBF
ProteinModelPortal	P59665
SMR	P59665
BioGrid	108031
IntAct	P59665
MINT	MINT-6631351
STRING	9606.ENSP00000372126
TCDB	1.C.19.1.1
PhosphoSite	P59665
DMDM	30316322
PaxDb	P59665
PeptideAtlas	P59665
PRIDE	P59665
DNASU	1667
Ensembl	ENST00000382679 ENST00000382689 ENST00000382692 ENST00000535841
GeneID	1667 728358
KEGG	hsa:1667 hsa:728358
UCSC	uc003wqv.1
CTD	1667 728358
GeneCards	GC08M006835 GC08M006854
HGNC	HGNC:2761 HGNC:33596
HPA	CAB032548 HPA052517
MIM	125220
neXtProt	NX_P59665
PharmGKB	PA165585475
eggNOG	NOG86943
GeneTree	ENSGT00730000111183
HOGENOM	HOG000233351
HOVERGEN	HBG011703
InParanoid	P59665
KO	K05230
OMA	RVWAFCC
OrthoDB	EOG75TMFQ
PhylomeDB	P59665
TreeFam	TF338414
Reactome	REACT_115574 REACT_115846
ChiTaRS	DEFA1
EvolutionaryTrace	P59665
GeneWiki	DEFA1B Defensin,_alpha_1
NextBio	6860
PMAP-CutDB	P59665
PRO	PR:P59665
Proteomes	UP000005640
Bgee	P59665
CleanEx	HS_DEFA1
Genevestigator	P59665
GO	GO:0035578 GO:0005576 GO:0005615 GO:0070062 GO:0005796 GO:0019731 GO:0006935 GO:0050832 GO:0050830 GO:0051607 GO:0006955 GO:0045087 GO:0002227 GO:0030520 GO:0031640
InterPro	IPR016327 IPR006080 IPR002366 IPR006081
PANTHER	PTHR11876
Pfam	PF00323 PF00879
PIRSF	PIRSF001875
SMART	SM00048
PROSITE	PS00269

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0006935	chemotaxis		ECO:0000304			P		Source: ProtInc	Missing: reference
	GO:0006955	immune response		ECO:0000304			P		Source: ProtInc	Missing: reference
	GO:0042742	defense response to bacterium	PMID:2997278^[1]	ECO:0000314			P		Table III shows bacterial decrease (death) after exposure to the HPN1-3 individually and together.	complete
	GO:0050832	defense response to fungus	PMID:2997278^[1]	ECO:0000314			P		Table III	complete
	GO:0051607	defense response to virus	PMID:2997278^[1]	ECO:0000314			P		Table III	complete
	GO:0042581	specific granule	PMID:2997278^[1]	ECO:0000314			C		Methods (purification of HNP)	complete
	GO:0001909	leukocyte mediated cytotoxicity	PMID:2997278^[1]	ECO:0000314			P		Table III and Methods (purification of HNP) indicate HNP found in leukocyte, cytotoxicity from killing of bacterial, fungal, viral targets	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:17088326^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:17088326^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:17088326^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010818	T cell chemotaxis	PMID:17088326^[2]	ECO:0000314	direct assay evidence used in manual assertion		P	results_in_movement_of:(CL:0000492) part_of:(CL:2000001)	Seeded From UniProt	complete
involved_in	GO:0051852	disruption by host of symbiont cells	PMID:17635867^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0044657	pore formation in membrane of other organism during symbiotic interaction	PMID:17635867^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	PMID:17635867^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(UBERON:0000178)	Seeded From UniProt	complete
involved_in	GO:0042832	defense response to protozoan	PMID:17635867^[3]	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:12860195^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0062023	collagen-containing extracellular matrix	PMID:27559042^[5]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0006618) part_of:(UBERON:0002302)	Seeded From UniProt	complete
involved_in	GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	PMID:17088326^[2]	ECO:0000305	curator inference used in manual assertion	GO:0010818,GO:0031640	P		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:23533145^[6]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19199708^[7]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001831)	Seeded From UniProt	complete
involved_in	GO:0050830	defense response to Gram-positive bacterium	PMID:12860195^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	occurs_in:(UBERON:0000317)	Seeded From UniProt	complete
involved_in	GO:0030520	intracellular estrogen receptor signaling pathway	PMID:21861873^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0019731	antibacterial humoral response	PMID:12860195^[4]	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:16502470^[9]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001914)	Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:12860195^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0000317)	Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:21861873^[8]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(GO:0002371)	Seeded From UniProt	complete
involved_in	GO:0002227	innate immune response in mucosa	PMID:12860195^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	occurs_in:(UBERON:0000317)	Seeded From UniProt	complete
colocalizes_with	GO:0062023	collagen-containing extracellular matrix	PMID:20551380^[10]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001496)	Seeded From UniProt	complete
involved_in	GO:0071222	cellular response to lipopolysaccharide	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:94880 MGI:MGI:94882 MGI:MGI:94883 PANTHER:PTN002275316	P		Seeded From UniProt	complete
involved_in	GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN002275316 UniProtKB:P12838 UniProtKB:P59665 UniProtKB:P59666	P		Seeded From UniProt	complete
involved_in	GO:0051673	membrane disruption in other organism	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99584 MGI:MGI:99592 PANTHER:PTN002275316	P		Seeded From UniProt	complete
involved_in	GO:0050830	defense response to Gram-positive bacterium	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:94880 MGI:MGI:94882 MGI:MGI:94883 PANTHER:PTN002275316 UniProtKB:P12838 UniProtKB:P59666 UniProtKB:P82270 UniProtKB:P82271 UniProtKB:Q01523	P		Seeded From UniProt	complete
involved_in	GO:0050829	defense response to Gram-negative bacterium	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:94880 MGI:MGI:94882 MGI:MGI:94883 MGI:MGI:99582 PANTHER:PTN002275316 UniProtKB:P12838 UniProtKB:P82270 UniProtKB:P82271 UniProtKB:Q01523	P		Seeded From UniProt	complete
involved_in	GO:0019731	antibacterial humoral response	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1915259 MGI:MGI:3630383 MGI:MGI:99584 PANTHER:PTN002275316 UniProtKB:P12838 UniProtKB:P59666	P		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1915259 MGI:MGI:3630383 MGI:MGI:94880 MGI:MGI:94882 MGI:MGI:94883 MGI:MGI:99584 PANTHER:PTN002275315 UniProtKB:P59666	C		Seeded From UniProt	complete
involved_in	GO:0002227	innate immune response in mucosa	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN002275316 UniProtKB:P59665 UniProtKB:P59666	P		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:IPR006080 InterPro:IPR006081	C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016327	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:IPR002366 InterPro:IPR006080 InterPro:IPR006081 InterPro:IPR016327	P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	PMID:15616305^[12]	ECO:0000305	curator inference used in manual assertion	GO:0031640	P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	PMID:15616305^[12]	ECO:0000305	curator inference used in manual assertion	GO:0031640	P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	PMID:15616305^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006955	immune response	PMID:10914484^[13]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006935	chemotaxis	PMID:10914484^[13]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043312	neutrophil degranulation	Reactome:R-HSA-6798695	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0035578	azurophil granule lumen	Reactome:R-HSA-6798751 Reactome:R-HSA-1462041 Reactome:R-HSA-1462003	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		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-1462039 Reactome:R-HSA-1462023 Reactome:R-HSA-1462003	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-6798751 Reactome:R-HSA-1972385 Reactome:R-HSA-1471354 Reactome:R-HSA-1471314 Reactome:R-HSA-1467209 Reactome:R-HSA-1462041 Reactome:R-HSA-1462014 Reactome:R-HSA-1461982 Reactome:R-HSA-1461971	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0051607	defense response to virus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0051	P		Seeded From UniProt	complete
involved_in	GO:0031640	killing of cells of other organism	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0295	P		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
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: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
involved_in	GO:0050832	defense response to fungus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0295	P		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 ^1.3 ^1.4 Ganz, T et al. (1985) Defensins. Natural peptide antibiotics of human neutrophils. J. Clin. Invest. 76 1427-35 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 Szyk, A et al. (2006) Crystal structures of human alpha-defensins HNP4, HD5, and HD6. Protein Sci. 15 2749-60 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Madison, MN et al. (2007) Human defensin alpha-1 causes Trypanosoma cruzi membrane pore formation and induces DNA fragmentation, which leads to trypanosome destruction. Infect. Immun. 75 4780-91 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 Tollin, M et al. (2003) Antimicrobial peptides in the first line defence of human colon mucosa. Peptides 24 523-30 PubMed GONUTS page
↑ Barallobre-Barreiro, J et al. (2016) Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin Activity in Human Atrial Fibrillation. Circulation 134 817-32 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
↑ Gonzalez-Begne, M et al. (2009) Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). J. Proteome Res. 8 1304-14 PubMed GONUTS page
↑ ^8.0 ^8.1 Escribese, MM et al. (2011) Alpha-defensins 1-3 release by dendritic cells is reduced by estrogen. Reprod. Biol. Endocrinol. 9 118 PubMed GONUTS page
↑ Palmer, DJ et al. (2006) Human colostrum: identification of minor proteins in the aqueous phase by proteomics. Proteomics 6 2208-16 PubMed GONUTS page
↑ Didangelos, A et al. (2010) Proteomics characterization of extracellular space components in the human aorta. Mol. Cell Proteomics 9 2048-62 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 ^11.3 ^11.4 ^11.5 ^11.6 ^11.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^12.00 ^12.01 ^12.02 ^12.03 ^12.04 ^12.05 ^12.06 ^12.07 ^12.08 ^12.09 ^12.10 ^12.11 ^12.12 ^12.13 Ericksen, B et al. (2005) Antibacterial activity and specificity of the six human {alpha}-defensins. Antimicrob. Agents Chemother. 49 269-75 PubMed GONUTS page
↑ ^13.0 ^13.1 Yang, D et al. (2000) Human neutrophil defensins selectively chemoattract naive T and immature dendritic cells. J. Leukoc. Biol. 68 9-14 PubMed GONUTS page

[PMID:2997278-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 Ganz, T et al. (1985) Defensins. Natural peptide antibiotics of human neutrophils. J. Clin. Invest. 76 1427-35 PubMed GONUTS page

[PMID:17088326-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 Szyk, A et al. (2006) Crystal structures of human alpha-defensins HNP4, HD5, and HD6. Protein Sci. 15 2749-60 PubMed GONUTS page

[PMID:17635867-3] 3.0 ^3.1 ^3.2 ^3.3 Madison, MN et al. (2007) Human defensin alpha-1 causes Trypanosoma cruzi membrane pore formation and induces DNA fragmentation, which leads to trypanosome destruction. Infect. Immun. 75 4780-91 PubMed GONUTS page

[PMID:12860195-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 Tollin, M et al. (2003) Antimicrobial peptides in the first line defence of human colon mucosa. Peptides 24 523-30 PubMed GONUTS page

[PMID:27559042-5] Barallobre-Barreiro, J et al. (2016) Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin Activity in Human Atrial Fibrillation. Circulation 134 817-32 PubMed GONUTS page

[PMID:23533145-6] 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:19199708-7] Gonzalez-Begne, M et al. (2009) Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). J. Proteome Res. 8 1304-14 PubMed GONUTS page

[PMID:21861873-8] 8.0 ^8.1 Escribese, MM et al. (2011) Alpha-defensins 1-3 release by dendritic cells is reduced by estrogen. Reprod. Biol. Endocrinol. 9 118 PubMed GONUTS page

[PMID:16502470-9] Palmer, DJ et al. (2006) Human colostrum: identification of minor proteins in the aqueous phase by proteomics. Proteomics 6 2208-16 PubMed GONUTS page

[PMID:20551380-10] Didangelos, A et al. (2010) Proteomics characterization of extracellular space components in the human aorta. Mol. Cell Proteomics 9 2048-62 PubMed GONUTS page

[PMID:21873635-11] 11.0 ^11.1 ^11.2 ^11.3 ^11.4 ^11.5 ^11.6 ^11.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:15616305-12] 12.00 ^12.01 ^12.02 ^12.03 ^12.04 ^12.05 ^12.06 ^12.07 ^12.08 ^12.09 ^12.10 ^12.11 ^12.12 ^12.13 Ericksen, B et al. (2005) Antibacterial activity and specificity of the six human {alpha}-defensins. Antimicrob. Agents Chemother. 49 269-75 PubMed GONUTS page

[PMID:10914484-13] 13.0 ^13.1 Yang, D et al. (2000) Human neutrophil defensins selectively chemoattract naive T and immature dendritic cells. J. Leukoc. Biol. 68 9-14 PubMed GONUTS page

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HUMAN:DEF1

Contents

Annotations

Notes

References

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