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Q8N690 (DB119_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:DEFB119
Synonyms:DEFB120, DEFB19, DEFB20
ORF Names:UNQ2449/PRO5729
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length84 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Has antibacterial activity Potential.

Subcellular location

Secreted Potential.

Sequence similarities

Belongs to the beta-defensin family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
   DomainSignal
   Molecular functionAntibiotic
Antimicrobial
Defensin
   PTMDisulfide bond
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdefense response to bacterium

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N690-1)

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.
Isoform 2 (identifier: Q8N690-2)

The sequence of this isoform differs from the canonical sequence as follows:
     21-84: GKRHILRCMG...SYEKQWPRLP → VECWMDGHCR...PKMKTNITNR
Isoform 3 (identifier: Q8N690-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Peptide22 – 8463Beta-defensin 119
PRO_0000006987

Amino acid modifications

Disulfide bond28 ↔ 55 By similarity
Disulfide bond35 ↔ 49 By similarity
Disulfide bond39 ↔ 56 By similarity

Natural variations

Alternative sequence21 – 8464GKRHI…WPRLP → VECWMDGHCRLLCKDGEDSI IRCRNRKRCCVPSRYLTIQP VTIHGILGWTTPQMSTTAPK MKTNITNR in isoform 2.
VSP_029871
Alternative sequence21 – 8464GKRHI…WPRLP → ALVRTVGCCLDTARQTPHPS MHG in isoform 3.
VSP_043188

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 2, 2004. Version 2.
Checksum: 0C2828612A674AB1

FASTA849,822
        10         20         30         40         50         60 
MKLLYLFLAI LLAIEEPVIS GKRHILRCMG NSGICRASCK KNEQPYLYCR NCQSCCLQSY 

        70         80 
MRISISGKEE NTDWSYEKQW PRLP 

« Hide

Isoform 2 [UniParc].

Checksum: BFFFB1573ACF71C7
Show »

FASTA8810,107
Isoform 3 (b) [UniParc].

Checksum: 3604F302F01FDD51
Show »

FASTA434,723

References

« Hide 'large scale' references
[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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001258138.1. NM_001271209.1.
NP_695021.2. NM_153289.3.
NP_697018.1. NM_153323.4.
UniGeneHs.516998.
Hs.743655.

3D structure databases

ProteinModelPortalQ8N690.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000365492.

Polymorphism databases

DMDM41713338.

Proteomic databases

PRIDEQ8N690.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339144; ENSP00000345768; ENSG00000180483. [Q8N690-3]
ENST00000376315; ENSP00000365492; ENSG00000180483. [Q8N690-2]
ENST00000376321; ENSP00000365499; ENSG00000180483. [Q8N690-1]
GeneID245932.
KEGGhsa:245932.
UCSCuc002wvt.4. human. [Q8N690-1]
uc002wvu.2. human. [Q8N690-2]

Organism-specific databases

CTD245932.
GeneCardsGC20M029964.
HGNCHGNC:18099. DEFB119.
HPAHPA043059.
neXtProtNX_Q8N690.
PharmGKBPA38495.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG87541.
HOGENOMHOG000139720.
HOVERGENHBG107794.
OMAGHCRLVC.
PhylomeDBQ8N690.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

ArrayExpressQ8N690.
BgeeQ8N690.
CleanExHS_DEFB119.
GenevestigatorQ8N690.

Family and domain databases

InterProIPR025933. Beta_defensin.
[Graphical view]
PfamPF13841. Defensin_beta_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDEFB119.
GenomeRNAi245932.
NextBio91793.
PROQ8N690.

Entry information

Entry nameDB119_HUMAN
AccessionPrimary (citable) accession number: Q8N690
Secondary accession number(s): Q5GRG1 expand/collapse secondary AC list , Q5JWP1, Q5TH42, Q8N689
Entry history
Integrated into UniProtKB/Swiss-Prot: December 6, 2002
Last sequence update: February 2, 2004
Last modified: April 16, 2014
This is version 88 of the entry and version 2 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

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM