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Q8WTQ1

- D104A_HUMAN

UniProt

Q8WTQ1 - D104A_HUMAN

Protein

Beta-defensin 104

Gene

DEFB104A

more
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
  1. Functioni

    Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103.1 Publication

    GO - Biological processi

    1. defense response to bacterium Source: UniProtKB-KW

    Keywords - Molecular functioni

    Antibiotic, Antimicrobial, Defensin

    Enzyme and pathway databases

    ReactomeiREACT_115846. Defensins.
    REACT_115897. Beta defensins.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-defensin 104
    Alternative name(s):
    Beta-defensin 4
    Short name:
    BD-4
    Short name:
    DEFB-4
    Short name:
    hBD-4
    Defensin, beta 104
    Gene namesi
    Name:DEFB104A
    Synonyms:DEFB104, DEFB4
    AND
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:18115. DEFB104A.
    HGNC:26165. DEFB104B.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671990.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Peptidei23 – 7250Beta-defensin 104PRO_0000006973Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi30 ↔ 57By similarity
    Disulfide bondi37 ↔ 51By similarity
    Disulfide bondi41 ↔ 58By similarity

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PRIDEiQ8WTQ1.

    Expressioni

    Tissue specificityi

    High expression in the testis. Gastric antrum exhibited relatively high levels. A lower expression is observed in uterus and neutrophils thyroid gland, lung, and kidney. No detectable expression in other tissues tested.1 Publication

    Inductioni

    Antimicrobial activity is decreased when the sodium chloride concentration is increased.

    Gene expression databases

    BgeeiQ8WTQ1.
    CleanExiHS_DEFB104A.
    HS_DEFB104B.
    HS_DEFB4.
    GenevestigatoriQ8WTQ1.

    Organism-specific databases

    HPAiHPA045292.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000320813.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WTQ1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the beta-defensin family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG86725.
    HOGENOMiHOG000010187.
    HOVERGENiHBG081400.
    InParanoidiQ8WTQ1.
    OMAiEYKIGRC.
    OrthoDBiEOG7PGDTF.
    PhylomeDBiQ8WTQ1.

    Family and domain databases

    InterProiIPR025933. Beta_defensin.
    [Graphical view]
    PfamiPF13841. Defensin_beta_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q8WTQ1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQRLVLLLAI SLLLYQDLPV RSEFELDRIC GYGTARCRKK CRSQEYRIGR   50
    CPNTYACCLR KWDESLLNRT KP 72
    Length:72
    Mass (Da):8,526
    Last modified:November 28, 2006 - v2
    Checksum:iE95B3465F2FF8DFE
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti38 – 381R → Q in AAI00851. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101I → V.2 Publications
    Corresponds to variant rs2680507 [ dbSNP | Ensembl ].
    VAR_024767

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ314834 mRNA. Translation: CAC85511.1.
    AJ314835 Genomic DNA. Translation: CAC85520.1.
    BC100848 mRNA. Translation: AAI00849.1.
    BC100849 mRNA. Translation: AAI00850.1.
    BC100850 mRNA. Translation: AAI00851.1.
    BC100851 mRNA. Translation: AAI00852.1.
    CCDSiCCDS34812.1.
    CCDS34834.1.
    RefSeqiNP_001035792.1. NM_001040702.1.
    NP_525128.2. NM_080389.2.
    UniGeneiHs.559507.
    Hs.745562.

    Genome annotation databases

    EnsembliENST00000314265; ENSP00000320813; ENSG00000176782.
    ENST00000316169; ENSP00000322191; ENSG00000177023.
    GeneIDi140596.
    503618.
    KEGGihsa:140596.
    hsa:503618.
    UCSCiuc003wrn.3. human.

    Polymorphism databases

    DMDMi118572637.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ314834 mRNA. Translation: CAC85511.1 .
    AJ314835 Genomic DNA. Translation: CAC85520.1 .
    BC100848 mRNA. Translation: AAI00849.1 .
    BC100849 mRNA. Translation: AAI00850.1 .
    BC100850 mRNA. Translation: AAI00851.1 .
    BC100851 mRNA. Translation: AAI00852.1 .
    CCDSi CCDS34812.1.
    CCDS34834.1.
    RefSeqi NP_001035792.1. NM_001040702.1.
    NP_525128.2. NM_080389.2.
    UniGenei Hs.559507.
    Hs.745562.

    3D structure databases

    ProteinModelPortali Q8WTQ1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000320813.

    Polymorphism databases

    DMDMi 118572637.

    Proteomic databases

    PRIDEi Q8WTQ1.

    Protocols and materials databases

    DNASUi 140596.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000314265 ; ENSP00000320813 ; ENSG00000176782 .
    ENST00000316169 ; ENSP00000322191 ; ENSG00000177023 .
    GeneIDi 140596.
    503618.
    KEGGi hsa:140596.
    hsa:503618.
    UCSCi uc003wrn.3. human.

    Organism-specific databases

    CTDi 140596.
    503618.
    GeneCardsi GC08M007317.
    GC08P007693.
    HGNCi HGNC:18115. DEFB104A.
    HGNC:26165. DEFB104B.
    HPAi HPA045292.
    neXtProti NX_Q8WTQ1.
    PharmGKBi PA142671990.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG86725.
    HOGENOMi HOG000010187.
    HOVERGENi HBG081400.
    InParanoidi Q8WTQ1.
    OMAi EYKIGRC.
    OrthoDBi EOG7PGDTF.
    PhylomeDBi Q8WTQ1.

    Enzyme and pathway databases

    Reactomei REACT_115846. Defensins.
    REACT_115897. Beta defensins.

    Miscellaneous databases

    GeneWikii DEFB104A.
    NextBioi 84173.
    PROi Q8WTQ1.

    Gene expression databases

    Bgeei Q8WTQ1.
    CleanExi HS_DEFB104A.
    HS_DEFB104B.
    HS_DEFB4.
    Genevestigatori Q8WTQ1.

    Family and domain databases

    InterProi IPR025933. Beta_defensin.
    [Graphical view ]
    Pfami PF13841. Defensin_beta_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity."
      Conejo-Garcia J.-R., Krause A., Schulz S., Rodriguez-Jimenez F.-J., Kluever E., Adermann K., Forssmann U., Frimpong-Boateng A., Bals R., Forssmann W.-G.
      FASEB J. 15:1819-1821(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, VARIANT VAL-10, TISSUE SPECIFICITY.
      Tissue: Lung.
    2. "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], VARIANT VAL-10.

    Entry informationi

    Entry nameiD104A_HUMAN
    AccessioniPrimary (citable) accession number: Q8WTQ1
    Secondary accession number(s): Q496I2, Q496I3, Q496I4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 27, 2002
    Last sequence update: November 28, 2006
    Last modified: October 1, 2014
    This is version 91 of the entry and version 2 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

    Complete proteome, 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3