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Q8N690

- DB119_HUMAN

UniProt

Q8N690 - DB119_HUMAN

Protein

Beta-defensin 119

Gene

DEFB119

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

    Has antibacterial activity.Curated

    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 119
    Alternative name(s):
    Beta-defensin 120
    Beta-defensin 19
    Short name:
    DEFB-19
    Beta-defensin 20
    Short name:
    DEFB-20
    Defensin, beta 119
    Defensin, beta 120
    ESC42-RELA
    Gene namesi
    Name:DEFB119
    Synonyms:DEFB120, DEFB19, DEFB20
    ORF Names:UNQ2449/PRO5729
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:18099. DEFB119.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38495.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Peptidei22 – 8463Beta-defensin 119PRO_0000006987Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi28 ↔ 55By similarity
    Disulfide bondi35 ↔ 49By similarity
    Disulfide bondi39 ↔ 56By similarity

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PRIDEiQ8N690.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N690.
    BgeeiQ8N690.
    CleanExiHS_DEFB119.
    GenevestigatoriQ8N690.

    Organism-specific databases

    HPAiHPA043059.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000365492.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N690.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the beta-defensin family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG87541.
    HOGENOMiHOG000139720.
    HOVERGENiHBG107794.
    OMAiKIMATHY.
    PhylomeDBiQ8N690.

    Family and domain databases

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

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N690-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKLLYLFLAI LLAIEEPVIS GKRHILRCMG NSGICRASCK KNEQPYLYCR   50
    NCQSCCLQSY MRISISGKEE NTDWSYEKQW PRLP 84
    Length:84
    Mass (Da):9,822
    Last modified:February 2, 2004 - v2
    Checksum:i0C2828612A674AB1
    GO
    Isoform 2 (identifier: Q8N690-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         21-84: GKRHILRCMG...SYEKQWPRLP → VECWMDGHCR...PKMKTNITNR

    Show »
    Length:88
    Mass (Da):10,107
    Checksum:iBFFFB1573ACF71C7
    GO
    Isoform 3 (identifier: Q8N690-3) [UniParc]FASTAAdd to Basket

    Also known as: b

    The sequence of this isoform differs from the canonical sequence as follows:
         21-84: GKRHILRCMG...SYEKQWPRLP → ALVRTVGCCLDTARQTPHPSMHG

    Note: Abundantly expressed in testis.

    Show »
    Length:43
    Mass (Da):4,723
    Checksum:i3604F302F01FDD51
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei21 – 8464GKRHI…WPRLP → VECWMDGHCRLLCKDGEDSI IRCRNRKRCCVPSRYLTIQP VTIHGILGWTTPQMSTTAPK MKTNITNR in isoform 2. 1 PublicationVSP_029871Add
    BLAST
    Alternative sequencei21 – 8464GKRHI…WPRLP → ALVRTVGCCLDTARQTPHPS MHG in isoform 3. 1 PublicationVSP_043188Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY122472 mRNA. Translation: AAM93914.1.
    AY122473 mRNA. Translation: AAM93915.1.
    AF479698 mRNA. Translation: AAQ05837.1.
    AY501001 mRNA. Translation: AAS87295.1.
    AY358860 mRNA. Translation: AAQ89219.1.
    AL031650, AL121751 Genomic DNA. Translation: CAI18883.1.
    AL031650, AL121751 Genomic DNA. Translation: CAI18884.1.
    AL121751 Genomic DNA. Translation: CAI19147.1.
    AL121751, AL031650 Genomic DNA. Translation: CAI19148.1.
    AL121751, AL031650 Genomic DNA. Translation: CAI19149.1.
    CH471077 Genomic DNA. Translation: EAW76448.1.
    CH471077 Genomic DNA. Translation: EAW76451.1.
    BC062212 mRNA. Translation: AAH62212.1.
    CCDSiCCDS13178.1. [Q8N690-1]
    CCDS33455.1. [Q8N690-2]
    RefSeqiNP_001258138.1. NM_001271209.1.
    NP_695021.2. NM_153289.3. [Q8N690-1]
    NP_697018.1. NM_153323.4. [Q8N690-2]
    UniGeneiHs.516998.
    Hs.743655.

    Genome annotation databases

    EnsembliENST00000339144; ENSP00000345768; ENSG00000180483. [Q8N690-3]
    ENST00000376315; ENSP00000365492; ENSG00000180483. [Q8N690-2]
    ENST00000376321; ENSP00000365499; ENSG00000180483. [Q8N690-1]
    GeneIDi245932.
    KEGGihsa:245932.
    UCSCiuc002wvt.4. human. [Q8N690-1]
    uc002wvu.2. human. [Q8N690-2]

    Polymorphism databases

    DMDMi41713338.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY122472 mRNA. Translation: AAM93914.1 .
    AY122473 mRNA. Translation: AAM93915.1 .
    AF479698 mRNA. Translation: AAQ05837.1 .
    AY501001 mRNA. Translation: AAS87295.1 .
    AY358860 mRNA. Translation: AAQ89219.1 .
    AL031650 , AL121751 Genomic DNA. Translation: CAI18883.1 .
    AL031650 , AL121751 Genomic DNA. Translation: CAI18884.1 .
    AL121751 Genomic DNA. Translation: CAI19147.1 .
    AL121751 , AL031650 Genomic DNA. Translation: CAI19148.1 .
    AL121751 , AL031650 Genomic DNA. Translation: CAI19149.1 .
    CH471077 Genomic DNA. Translation: EAW76448.1 .
    CH471077 Genomic DNA. Translation: EAW76451.1 .
    BC062212 mRNA. Translation: AAH62212.1 .
    CCDSi CCDS13178.1. [Q8N690-1 ]
    CCDS33455.1. [Q8N690-2 ]
    RefSeqi NP_001258138.1. NM_001271209.1.
    NP_695021.2. NM_153289.3. [Q8N690-1 ]
    NP_697018.1. NM_153323.4. [Q8N690-2 ]
    UniGenei Hs.516998.
    Hs.743655.

    3D structure databases

    ProteinModelPortali Q8N690.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000365492.

    Polymorphism databases

    DMDMi 41713338.

    Proteomic databases

    PRIDEi Q8N690.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339144 ; ENSP00000345768 ; ENSG00000180483 . [Q8N690-3 ]
    ENST00000376315 ; ENSP00000365492 ; ENSG00000180483 . [Q8N690-2 ]
    ENST00000376321 ; ENSP00000365499 ; ENSG00000180483 . [Q8N690-1 ]
    GeneIDi 245932.
    KEGGi hsa:245932.
    UCSCi uc002wvt.4. human. [Q8N690-1 ]
    uc002wvu.2. human. [Q8N690-2 ]

    Organism-specific databases

    CTDi 245932.
    GeneCardsi GC20M029964.
    HGNCi HGNC:18099. DEFB119.
    HPAi HPA043059.
    neXtProti NX_Q8N690.
    PharmGKBi PA38495.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG87541.
    HOGENOMi HOG000139720.
    HOVERGENi HBG107794.
    OMAi KIMATHY.
    PhylomeDBi Q8N690.

    Enzyme and pathway databases

    Reactomei REACT_115846. Defensins.
    REACT_115897. Beta defensins.

    Miscellaneous databases

    GeneWikii DEFB119.
    GenomeRNAii 245932.
    NextBioi 91793.
    PROi Q8N690.

    Gene expression databases

    ArrayExpressi Q8N690.
    Bgeei Q8N690.
    CleanExi HS_DEFB119.
    Genevestigatori Q8N690.

    Family and domain databases

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

    Publicationsi

    1. "Discovery of five conserved beta-defensin gene clusters using a computational search strategy."
      Schutte B.C., Mitros J.P., Bartlett J.A., Walters J.D., Jia H.P., Welsh M.J., Casavant T.L., McCray P.B. Jr.
      Proc. Natl. Acad. Sci. U.S.A. 99:2129-2133(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), IDENTIFICATION.
      Tissue: B-cell, Fetal lung and Testis.
    2. Hamil K.G., Hall S.H.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Identification, characterization, and evolution of a primate beta-defensin gene cluster."
      Radhakrishnan Y., Hamil K.G., Yenugu S., Young S.L., French F.S., Hall S.H.
      Genes Immun. 6:203-210(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 1).
      Tissue: Testis.

    Entry informationi

    Entry nameiDB119_HUMAN
    AccessioniPrimary (citable) accession number: Q8N690
    Secondary accession number(s): Q5GRG1
    , Q5JWP1, Q5TH42, Q8N689
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 6, 2002
    Last sequence update: February 2, 2004
    Last modified: October 1, 2014
    This is version 92 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 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3