DB119_HUMAN
ID DB119_HUMAN Reviewed; 84 AA.
AC Q8N690; Q5GRG1; Q5JWP1; Q5TH42; Q8N689;
DT 06-DEC-2002, integrated into UniProtKB/Swiss-Prot.
DT 02-FEB-2004, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Beta-defensin 119;
DE AltName: Full=Beta-defensin 120;
DE AltName: Full=Beta-defensin 19;
DE Short=DEFB-19;
DE AltName: Full=Beta-defensin 20;
DE Short=DEFB-20;
DE AltName: Full=Defensin, beta 119;
DE AltName: Full=Defensin, beta 120;
DE AltName: Full=ESC42-RELA;
DE Flags: Precursor;
GN Name=DEFB119; Synonyms=DEFB120, DEFB19, DEFB20; ORFNames=UNQ2449/PRO5729;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND IDENTIFICATION.
RC TISSUE=B-cell, Fetal lung, and Testis;
RX PubMed=11854508; DOI=10.1073/pnas.042692699;
RA Schutte B.C., Mitros J.P., Bartlett J.A., Walters J.D., Jia H.P.,
RA Welsh M.J., Casavant T.L., McCray P.B. Jr.;
RT "Discovery of five conserved beta-defensin gene clusters using a
RT computational search strategy.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:2129-2133(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Hamil K.G., Hall S.H.;
RL Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=15772680; DOI=10.1038/sj.gene.6364184;
RA Radhakrishnan Y., Hamil K.G., Yenugu S., Young S.L., French F.S.,
RA Hall S.H.;
RT "Identification, characterization, and evolution of a primate beta-defensin
RT gene cluster.";
RL Genes Immun. 6:203-210(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Has antibacterial activity. {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N690-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N690-2; Sequence=VSP_029871;
CC Name=3; Synonyms=b;
CC IsoId=Q8N690-3; Sequence=VSP_043188;
CC -!- TISSUE SPECIFICITY: Abundant expression in the male reproductive tract
CC only. Abundant expressed in testis and the caput region of epididymis,
CC but low in the corpus region. {ECO:0000269|PubMed:15772680}.
CC -!- MISCELLANEOUS: [Isoform 3]: Abundantly expressed in testis.
CC {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the beta-defensin family. {ECO:0000305}.
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DR EMBL; AY122472; AAM93914.1; -; mRNA.
DR EMBL; AY122473; AAM93915.1; -; mRNA.
DR EMBL; AF479698; AAQ05837.1; -; mRNA.
DR EMBL; AY501001; AAS87295.1; -; mRNA.
DR EMBL; AY358860; AAQ89219.1; -; mRNA.
DR EMBL; AL031650; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL121751; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW76448.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76451.1; -; Genomic_DNA.
DR EMBL; BC062212; AAH62212.1; -; mRNA.
DR CCDS; CCDS13178.1; -. [Q8N690-1]
DR CCDS; CCDS33455.1; -. [Q8N690-2]
DR RefSeq; NP_001258138.1; NM_001271209.1.
DR RefSeq; NP_695021.2; NM_153289.3. [Q8N690-1]
DR RefSeq; NP_697018.1; NM_153323.4. [Q8N690-2]
DR AlphaFoldDB; Q8N690; -.
DR iPTMnet; Q8N690; -.
DR PhosphoSitePlus; Q8N690; -.
DR BioMuta; DEFB119; -.
DR DMDM; 41713338; -.
DR MassIVE; Q8N690; -.
DR PeptideAtlas; Q8N690; -.
DR PRIDE; Q8N690; -.
DR ProteomicsDB; 72143; -. [Q8N690-1]
DR Antibodypedia; 49716; 63 antibodies from 18 providers.
DR DNASU; 245932; -.
DR Ensembl; ENST00000339144.3; ENSP00000345768.3; ENSG00000180483.7. [Q8N690-3]
DR Ensembl; ENST00000376315.2; ENSP00000365492.2; ENSG00000180483.7. [Q8N690-2]
DR Ensembl; ENST00000376321.4; ENSP00000365499.3; ENSG00000180483.7. [Q8N690-1]
DR GeneID; 245932; -.
DR KEGG; hsa:245932; -.
DR MANE-Select; ENST00000376321.4; ENSP00000365499.3; NM_153289.4; NP_695021.2.
DR UCSC; uc002wvt.5; human. [Q8N690-1]
DR CTD; 245932; -.
DR DisGeNET; 245932; -.
DR GeneCards; DEFB119; -.
DR HGNC; HGNC:18099; DEFB119.
DR HPA; ENSG00000180483; Tissue enriched (epididymis).
DR MIM; 615997; gene.
DR neXtProt; NX_Q8N690; -.
DR OpenTargets; ENSG00000180483; -.
DR PharmGKB; PA38495; -.
DR VEuPathDB; HostDB:ENSG00000180483; -.
DR GeneTree; ENSGT00510000050451; -.
DR HOGENOM; CLU_3241931_0_0_1; -.
DR InParanoid; Q8N690; -.
DR OMA; HHTLRCM; -.
DR OrthoDB; 1571101at2759; -.
DR PhylomeDB; Q8N690; -.
DR PathwayCommons; Q8N690; -.
DR Reactome; R-HSA-1461957; Beta defensins.
DR Reactome; R-HSA-1461973; Defensins.
DR BioGRID-ORCS; 245932; 8 hits in 1064 CRISPR screens.
DR GeneWiki; DEFB119; -.
DR GenomeRNAi; 245932; -.
DR Pharos; Q8N690; Tbio.
DR PRO; PR:Q8N690; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8N690; protein.
DR Bgee; ENSG00000180483; Expressed in corpus epididymis and 109 other tissues.
DR Genevisible; Q8N690; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0001530; F:lipopolysaccharide binding; IDA:UniProtKB.
DR GO; GO:0061760; P:antifungal innate immune response; IDA:UniProtKB.
DR GO; GO:0050829; P:defense response to Gram-negative bacterium; IDA:UniProtKB.
DR GO; GO:0050830; P:defense response to Gram-positive bacterium; IDA:UniProtKB.
DR GO; GO:0045087; P:innate immune response; IDA:UniProtKB.
DR InterPro; IPR025933; Beta_defensin.
DR Pfam; PF13841; Defensin_beta_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Antibiotic; Antimicrobial; Defensin; Disulfide bond;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT PEPTIDE 22..84
FT /note="Beta-defensin 119"
FT /id="PRO_0000006987"
FT DISULFID 28..55
FT /evidence="ECO:0000250"
FT DISULFID 35..49
FT /evidence="ECO:0000250"
FT DISULFID 39..56
FT /evidence="ECO:0000250"
FT VAR_SEQ 21..84
FT /note="GKRHILRCMGNSGICRASCKKNEQPYLYCRNCQSCCLQSYMRISISGKEENT
FT DWSYEKQWPRLP -> VECWMDGHCRLLCKDGEDSIIRCRNRKRCCVPSRYLTIQPVTI
FT HGILGWTTPQMSTTAPKMKTNITNR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11854508"
FT /id="VSP_029871"
FT VAR_SEQ 21..84
FT /note="GKRHILRCMGNSGICRASCKKNEQPYLYCRNCQSCCLQSYMRISISGKEENT
FT DWSYEKQWPRLP -> ALVRTVGCCLDTARQTPHPSMHG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15772680"
FT /id="VSP_043188"
SQ SEQUENCE 84 AA; 9822 MW; 0C2828612A674AB1 CRC64;
MKLLYLFLAI LLAIEEPVIS GKRHILRCMG NSGICRASCK KNEQPYLYCR NCQSCCLQSY
MRISISGKEE NTDWSYEKQW PRLP
