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P60022

- DEFB1_HUMAN

UniProt

P60022 - DEFB1_HUMAN

Protein

Beta-defensin 1

Gene

DEFB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Has bactericidal activity.By similarity

    GO - Biological processi

    1. acute inflammatory response Source: Ensembl
    2. antibacterial humoral response Source: UniProt
    3. chemotaxis Source: ProtInc
    4. defense response to Gram-positive bacterium Source: UniProt
    5. G-protein coupled receptor signaling pathway Source: ProtInc
    6. immune response Source: ProtInc
    7. innate immune response Source: UniProtKB
    8. innate immune response in mucosa Source: UniProt
    9. response to bacterium Source: UniProtKB
    10. response to testosterone Source: Ensembl

    Keywords - Molecular functioni

    Antibiotic, Antimicrobial, Defensin

    Enzyme and pathway databases

    ReactomeiREACT_115846. Defensins.
    REACT_115897. Beta 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
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:2766. DEFB1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: Reactome
    2. extracellular space Source: UniProt
    3. extracellular vesicular exosome Source: UniProt
    4. Golgi lumen Source: Reactome

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27243.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Propeptidei22 – 32111 PublicationPRO_0000006899Add
    BLAST
    Peptidei33 – 6836Beta-defensin 1PRO_0000006900Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi37 ↔ 66
    Disulfide bondi44 ↔ 59
    Disulfide bondi49 ↔ 67

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PaxDbiP60022.
    PeptideAtlasiP60022.
    PRIDEiP60022.

    Miscellaneous databases

    PMAP-CutDBP60022.

    Expressioni

    Tissue specificityi

    Plasma.

    Gene expression databases

    BgeeiP60022.
    CleanExiHS_DEFB1.
    GenevestigatoriP60022.

    Interactioni

    Protein-protein interaction databases

    BioGridi108036. 1 interaction.
    IntActiP60022. 2 interactions.
    MINTiMINT-5306206.
    STRINGi9606.ENSP00000297439.

    Structurei

    Secondary structure

    1
    68
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi34 – 407
    Beta strandi43 – 475
    Beta strandi50 – 523
    Beta strandi55 – 595
    Turni60 – 634
    Beta strandi64 – 674

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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. Positions 33-68.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP60022.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the beta-defensin family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG78795.
    HOGENOMiHOG000112188.
    HOVERGENiHBG084156.
    InParanoidiP60022.
    OMAiYSACPIY.
    OrthoDBiEOG77WWGH.
    PhylomeDBiP60022.

    Family and domain databases

    InterProiIPR001855. Defensin_beta-typ.
    [Graphical view]
    PfamiPF00711. Defensin_beta. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P60022-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRTSYLLLFT LCLLLSEMAS GGNFLTGLGH RSDHYNCVSS GGQCLYSACP   50
    IFTKIQGTCY RGKAKCCK 68
    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381V → I.
    Corresponds to variant rs2738047 [ dbSNP | Ensembl ].
    VAR_018405
    Natural varianti48 – 481A → V.
    Corresponds to variant rs1800967 [ dbSNP | Ensembl ].
    VAR_014925
    Natural varianti67 – 671C → S.
    Corresponds to variant rs1800968 [ dbSNP | Ensembl ].
    VAR_014926

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    GeneIDi1672.
    KEGGihsa:1672.
    UCSCiuc003wqs.2. human.

    Polymorphism databases

    DMDMi38503374.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS5959.1.
    PIRi S66282.
    RefSeqi NP_005209.1. NM_005218.3.
    UniGenei Hs.32949.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1E4S NMR - A 33-68 [» ]
    1IJU X-ray 1.40 A/B/C/D 33-68 [» ]
    1IJV X-ray 1.20 A/B 33-68 [» ]
    1KJ5 NMR - A 33-68 [» ]
    2NLB X-ray 1.85 A/B/C/D 33-68 [» ]
    2NLC X-ray 1.65 A/B/C/D 33-68 [» ]
    2NLD X-ray 1.49 A/B 33-68 [» ]
    2NLE X-ray 1.35 A/B 33-68 [» ]
    2NLF X-ray 1.45 A/B 33-68 [» ]
    2NLG X-ray 1.65 A/B/C/D 33-68 [» ]
    2NLH X-ray 1.85 A/B/C/D 33-68 [» ]
    2NLP X-ray 1.85 A/B/C/D 33-68 [» ]
    2NLQ X-ray 1.80 A/B/C/D 33-68 [» ]
    2NLS X-ray 0.98 A 33-68 [» ]
    2PLZ X-ray 1.36 A 33-68 [» ]
    ProteinModelPortali P60022.
    SMRi P60022. Positions 33-68.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108036. 1 interaction.
    IntActi P60022. 2 interactions.
    MINTi MINT-5306206.
    STRINGi 9606.ENSP00000297439.

    Protein family/group databases

    TCDBi 1.C.85.1.1. the pore-forming -defensin (-defensin) family.

    Polymorphism databases

    DMDMi 38503374.

    Proteomic databases

    PaxDbi P60022.
    PeptideAtlasi P60022.
    PRIDEi P60022.

    Protocols and materials databases

    DNASUi 1672.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297439 ; ENSP00000297439 ; ENSG00000164825 .
    GeneIDi 1672.
    KEGGi hsa:1672.
    UCSCi uc003wqs.2. human.

    Organism-specific databases

    CTDi 1672.
    GeneCardsi GC08M006715.
    HGNCi HGNC:2766. DEFB1.
    MIMi 602056. gene.
    neXtProti NX_P60022.
    PharmGKBi PA27243.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG78795.
    HOGENOMi HOG000112188.
    HOVERGENi HBG084156.
    InParanoidi P60022.
    OMAi YSACPIY.
    OrthoDBi EOG77WWGH.
    PhylomeDBi P60022.

    Enzyme and pathway databases

    Reactomei REACT_115846. Defensins.
    REACT_115897. Beta defensins.

    Miscellaneous databases

    EvolutionaryTracei P60022.
    GeneWikii Defensin,_beta_1.
    GenomeRNAii 1672.
    NextBioi 6880.
    PMAP-CutDB P60022.
    PROi P60022.
    SOURCEi Search...

    Gene expression databases

    Bgeei P60022.
    CleanExi HS_DEFB1.
    Genevestigatori P60022.

    Family and domain databases

    InterProi IPR001855. Defensin_beta-typ.
    [Graphical view ]
    Pfami PF00711. Defensin_beta. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. 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.

    Entry informationi

    Entry nameiDEFB1_HUMAN
    AccessioniPrimary (citable) accession number: P60022
    Secondary accession number(s): Q09753
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 21, 2003
    Last sequence update: November 21, 2003
    Last modified: October 1, 2014
    This is version 115 of the entry and version 1 of the sequence. [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

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3