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Protein

Beta-defensin 119

Gene

DEFB119

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Has antibacterial activity.Curated

GO - Biological processi

  1. defense response to bacterium Source: GO_Central
  2. innate immune response Source: GO_Central
Complete GO annotation...

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. cell surface Source: GO_Central
  2. extracellular region Source: UniProtKB-SubCell
Complete GO annotation...

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

Tissue specificityi

Abundant expression in the male reproductive tract only. Abundant expressed in testis and the caput region of epididymis, but low in the corpus region.1 Publication

Gene expression databases

BgeeiQ8N690.
CleanExiHS_DEFB119.
ExpressionAtlasiQ8N690. baseline.
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.
GeneTreeiENSGT00390000000279.
HOGENOMiHOG000139720.
HOVERGENiHBG107794.
InParanoidiQ8N690.
OMAiPYLYCRN.
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. AlignAdd to basket

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

        10         20         30         40         50
MKLLYLFLAI LLAIEEPVIS GKRHILRCMG NSGICRASCK KNEQPYLYCR
60 70 80
NCQSCCLQSY MRISISGKEE NTDWSYEKQW PRLP
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8N690.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000365492.

Polymorphism databases

DMDMi41713338.

Proteomic databases

PRIDEiQ8N690.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi245932.
GeneCardsiGC20M029964.
HGNCiHGNC:18099. DEFB119.
HPAiHPA043059.
MIMi615997. gene.
neXtProtiNX_Q8N690.
PharmGKBiPA38495.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG87541.
GeneTreeiENSGT00390000000279.
HOGENOMiHOG000139720.
HOVERGENiHBG107794.
InParanoidiQ8N690.
OMAiPYLYCRN.
PhylomeDBiQ8N690.

Enzyme and pathway databases

ReactomeiREACT_115846. Defensins.
REACT_115897. Beta defensins.

Miscellaneous databases

GeneWikiiDEFB119.
GenomeRNAii245932.
NextBioi91793.
PROiQ8N690.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N690.
CleanExiHS_DEFB119.
ExpressionAtlasiQ8N690. baseline.
GenevestigatoriQ8N690.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 SPECIFICITY.
    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: February 4, 2015
This is version 95 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.