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Protein

Beta-defensin 1

Gene

DEFB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).1 Publication

GO - Molecular functioni

  • CCR6 chemokine receptor binding Source: UniProtKB
  • identical protein binding Source: UniProtKB

GO - Biological processi

  • antibacterial humoral response Source: UniProtKB
  • antimicrobial humoral immune response mediated by antimicrobial peptide Source: UniProtKB
  • antimicrobial humoral response Source: Reactome
  • calcium-mediated signaling using intracellular calcium source Source: UniProtKB
  • cAMP-mediated signaling Source: UniProtKB
  • chemotaxis Source: ProtInc
  • defense response to bacterium Source: MGI
  • defense response to Gram-negative bacterium Source: UniProtKB
  • defense response to Gram-positive bacterium Source: UniProtKB
  • G-protein coupled receptor signaling pathway Source: ProtInc
  • immune response Source: ProtInc
  • innate immune response Source: UniProtKB
  • innate immune response in mucosa Source: UniProtKB
  • positive regulation of flagellated sperm motility involved in capacitation Source: UniProtKB
  • response to bacterium Source: UniProtKB

Keywordsi

Molecular functionAntibiotic, Antimicrobial, Defensin

Enzyme and pathway databases

ReactomeiR-HSA-1461957 Beta defensins
R-HSA-1461973 Defensins

Protein family/group databases

TCDBi1.C.85.1.1 the pore-forming -defensin (-defensin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-defensin 1
Short name:
BD-1
Short name:
hBD-1
Alternative name(s):
Defensin, beta 1
Gene namesi
Name:DEFB1
Synonyms:BD1, HBD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000164825.3
HGNCiHGNC:2766 DEFB1
MIMi602056 gene
neXtProtiNX_P60022

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi1672
OpenTargetsiENSG00000164825
PharmGKBiPA27243

Polymorphism and mutation databases

BioMutaiDEFB1
DMDMi38503374

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisCombined sourcesAdd BLAST21
PropeptideiPRO_000000689922 – 321 PublicationAdd BLAST11
PeptideiPRO_000000690033 – 68Beta-defensin 1Add BLAST36

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi37 ↔ 66
Disulfide bondi44 ↔ 59
Disulfide bondi49 ↔ 67

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiP60022
PeptideAtlasiP60022
PRIDEiP60022
ProteomicsDBi57181

Miscellaneous databases

PMAP-CutDBiP60022

Expressioni

Tissue specificityi

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).2 Publications

Gene expression databases

BgeeiENSG00000164825
CleanExiHS_DEFB1
GenevisibleiP60022 HS

Interactioni

Subunit structurei

Monomer (PubMed:23938203). Homodimer (PubMed:23938203).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ASPHQ12797-64EBI-7200390,EBI-12092171

GO - Molecular functioni

  • CCR6 chemokine receptor binding Source: UniProtKB
  • identical protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108036, 9 interactors
IntActiP60022, 3 interactors
MINTiP60022
STRINGi9606.ENSP00000297439

Chemistry databases

BindingDBiP60022

Structurei

Secondary structure

168
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi34 – 40Combined sources7
Beta strandi43 – 47Combined sources5
Beta strandi50 – 52Combined sources3
Beta strandi55 – 59Combined sources5
Turni60 – 63Combined sources4
Beta strandi64 – 67Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1E4SNMR-A33-68[»]
1IJUX-ray1.40A/B/C/D33-68[»]
1IJVX-ray1.20A/B33-68[»]
1KJ5NMR-A33-68[»]
2NLBX-ray1.85A/B/C/D33-68[»]
2NLCX-ray1.65A/B/C/D33-68[»]
2NLDX-ray1.49A/B33-68[»]
2NLEX-ray1.35A/B33-68[»]
2NLFX-ray1.45A/B33-68[»]
2NLGX-ray1.65A/B/C/D33-68[»]
2NLHX-ray1.85A/B/C/D33-68[»]
2NLPX-ray1.85A/B/C/D33-68[»]
2NLQX-ray1.80A/B/C/D33-68[»]
2NLSX-ray0.98A33-68[»]
2PLZX-ray1.36A33-68[»]
ProteinModelPortaliP60022
SMRiP60022
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP60022

Family & Domainsi

Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J7H1 Eukaryota
ENOG41119QC LUCA
GeneTreeiENSGT00390000017014
HOGENOMiHOG000112188
HOVERGENiHBG084156
InParanoidiP60022
OMAiKIQGTCY
OrthoDBiEOG091G18L0
PhylomeDBiP60022

Family and domain databases

InterProiView protein in InterPro
IPR001855 Defensin_beta-typ
PfamiView protein in Pfam
PF00711 Defensin_beta, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P60022-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRTSYLLLFT LCLLLSEMAS GGNFLTGLGH RSDHYNCVSS GGQCLYSACP
60
IFTKIQGTCY RGKAKCCK
Length:68
Mass (Da):7,420
Last modified:November 21, 2003 - v1
Checksum:iB0AB76DEC3B14F94
GO

Mass spectrometryi

Molecular mass is 3928±0.5 Da from positions 33 - 68. Determined by ESI. 1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01840538V → I. Corresponds to variant dbSNP:rs2738047Ensembl.1
Natural variantiVAR_01492548A → V. Corresponds to variant dbSNP:rs1800967Ensembl.1
Natural variantiVAR_01492667C → S. Corresponds to variant dbSNP:rs1800968Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U50931, U50930 Genomic DNA Translation: AAC51728.1
X92744 mRNA Translation: CAA63405.1
U73945 mRNA Translation: AAB49758.1
BC033298 mRNA Translation: AAH33298.1
BC047677 mRNA Translation: AAH47677.1
Z50788 mRNA Translation: CAA90650.1
CCDSiCCDS5959.1
PIRiS66282
RefSeqiNP_005209.1, NM_005218.3
UniGeneiHs.32949

Genome annotation databases

EnsembliENST00000297439; ENSP00000297439; ENSG00000164825
ENST00000642865; ENSP00000494448; ENSG00000284881
GeneIDi1672
KEGGihsa:1672
UCSCiuc003wqs.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDEFB1_HUMAN
AccessioniPrimary (citable) accession number: P60022
Secondary accession number(s): Q09753
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: November 21, 2003
Last modified: June 20, 2018
This is version 140 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

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