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P60022 (DEFB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-defensin 1

Short name=BD-1
Short name=hBD-1
Alternative name(s):
Defensin, beta 1
Gene names
Name:DEFB1
Synonyms:BD1, HBD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length68 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Has bactericidal activity By similarity.

Subcellular location

Secreted.

Tissue specificity

Plasma.

Sequence similarities

Belongs to the beta-defensin family.

Mass spectrometry

Molecular mass is 3928±0.5 Da from positions 33 - 68. Determined by ESI. Ref.5

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Propeptide22 – 3211
PRO_0000006899
Peptide33 – 6836Beta-defensin 1 Ref.5
PRO_0000006900

Amino acid modifications

Disulfide bond37 ↔ 66
Disulfide bond44 ↔ 59
Disulfide bond49 ↔ 67

Natural variations

Natural variant381V → I.
Corresponds to variant rs2738047 [ dbSNP | Ensembl ].
VAR_018405
Natural variant481A → V.
Corresponds to variant rs1800967 [ dbSNP | Ensembl ].
VAR_014925
Natural variant671C → S.
Corresponds to variant rs1800968 [ dbSNP | Ensembl ].
VAR_014926

Secondary structure

........... 68
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P60022 [UniParc].

Last modified November 21, 2003. Version 1.
Checksum: B0AB76DEC3B14F94

FASTA687,420
        10         20         30         40         50         60 
MRTSYLLLFT LCLLLSEMAS GGNFLTGLGH RSDHYNCVSS GGQCLYSACP IFTKIQGTCY 


RGKAKCCK 

« Hide

References

« Hide 'large scale' references
[1]"The human beta-defensin-1 and alpha-defensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry."
Liu L., Zhao C., Heng H.H.Q., Ganz T.
Genomics 43:316-320(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]Zhao C.
Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Kidney.
[3]"Human airway epithelia express a beta-defensin."
McCray P.B. Jr., Bentley L.
Am. J. Respir. Cell Mol. Biol. 16:343-349(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Colon and Skin.
[5]"hBD-1: a novel beta-defensin from human plasma."
Bensch K.W., Raida M., Maegert H.-J., Schulz-Knappe P., Forssmann W.-G.
FEBS Lett. 368:331-335(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 33-68, PROTEIN SEQUENCE OF 33-68, MASS SPECTROMETRY.
Tissue: Kidney, Plasma and Vagina.
[6]"Chemical synthesis of beta-defensins and LEAP-1/hepcidin."
Kluever E., Schulz A., Forssmann W.-G., Adermann K.
J. Pept. Res. 59:241-248(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SYNTHESIS OF 33-68.
[7]"The structure of human beta-defensin-1: new insights into structural properties of beta-defensins."
Hoover D.M., Chertov O., Lubkowski J.
J. Biol. Chem. 276:39021-39026(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.2 ANGSTROMS) OF 33-68.
[8]"Structure determination of human and murine beta-defensins reveals structural conservation in the absence of significant sequence similarity."
Bauer F., Schweimer K., Kluever E., Conejo-Garcia J.-R., Forssmann W.-G., Roesch P., Adermann K., Sticht H.
Protein Sci. 10:2470-2479(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 33-68.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRS66282.
RefSeqNP_005209.1. NM_005218.3.
UniGeneHs.32949.

3D structure databases

PDBe
RCSB PDB
PDBj
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-ray1.36A33-67[»]
ProteinModelPortalP60022.
SMRP60022. Positions 33-68.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108036. 1 interaction.
IntActP60022. 2 interactions.
MINTMINT-5306206.
STRING9606.ENSP00000297439.

Protein family/group databases

TCDB1.C.85.1.1. the pore-forming -defensin (-defensin) family.

Polymorphism databases

DMDM38503374.

Proteomic databases

PaxDbP60022.
PeptideAtlasP60022.
PRIDEP60022.

Protocols and materials databases

DNASU1672.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297439; ENSP00000297439; ENSG00000164825.
GeneID1672.
KEGGhsa:1672.
UCSCuc003wqs.2. human.

Organism-specific databases

CTD1672.
GeneCardsGC08M006715.
HGNCHGNC:2766. DEFB1.
MIM602056. gene.
neXtProtNX_P60022.
PharmGKBPA27243.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG78795.
HOGENOMHOG000112188.
HOVERGENHBG084156.
InParanoidP60022.
OMAGKAKCCK.
OrthoDBEOG77WWGH.
PhylomeDBP60022.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

BgeeP60022.
CleanExHS_DEFB1.
GenevestigatorP60022.

Family and domain databases

InterProIPR001855. Defensin_beta-typ.
[Graphical view]
PfamPF00711. Defensin_beta. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP60022.
GeneWikiDefensin,_beta_1.
GenomeRNAi1672.
NextBio6880.
PMAP-CutDBP60022.
PROP60022.
SOURCESearch...

Entry information

Entry nameDEFB1_HUMAN
AccessionPrimary (citable) accession number: P60022
Secondary accession number(s): Q09753
Entry history
Integrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: November 21, 2003
Last modified: April 16, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM