DB124_HUMAN
ID DB124_HUMAN Reviewed; 71 AA.
AC Q8NES8; Q30E74;
DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 20-DEC-2005, sequence version 2.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Beta-defensin 124;
DE AltName: Full=Beta-defensin 24;
DE Short=DEFB-24;
DE AltName: Full=Defensin, beta 124;
DE Flags: Precursor;
GN Name=DEFB124; Synonyms=DEFB24;
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].
RX PubMed=16033865; DOI=10.1152/physiolgenomics.00104.2005;
RA Patil A.A., Cai Y., Sang Y., Blecha F., Zhang G.;
RT "Cross-species analysis of the mammalian beta-defensin gene family:
RT presence of syntenic gene clusters and preferential expression in the male
RT reproductive tract.";
RL Physiol. Genomics 23:5-17(2005).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 23-65.
RC TISSUE=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).
CC -!- FUNCTION: Has antibacterial activity. {ECO:0000305}.
CC -!- INTERACTION:
CC Q8NES8; O43639: NCK2; NbExp=3; IntAct=EBI-12843376, EBI-713635;
CC Q8NES8; O00264: PGRMC1; NbExp=3; IntAct=EBI-12843376, EBI-1045534;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the beta-defensin family. {ECO:0000305}.
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DR EMBL; DQ119827; AAZ81952.1; -; mRNA.
DR EMBL; AL121751; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AY122476; AAM93917.1; -; mRNA.
DR CCDS; CCDS33457.1; -.
DR RefSeq; NP_001032589.1; NM_001037500.1.
DR AlphaFoldDB; Q8NES8; -.
DR SMR; Q8NES8; -.
DR BioGRID; 128850; 2.
DR IntAct; Q8NES8; 2.
DR STRING; 9606.ENSP00000326309; -.
DR BioMuta; DEFB124; -.
DR DMDM; 84028202; -.
DR PaxDb; Q8NES8; -.
DR PeptideAtlas; Q8NES8; -.
DR PRIDE; Q8NES8; -.
DR Antibodypedia; 62850; 40 antibodies from 6 providers.
DR DNASU; 245937; -.
DR Ensembl; ENST00000317676.3; ENSP00000326309.2; ENSG00000180383.4.
DR GeneID; 245937; -.
DR KEGG; hsa:245937; -.
DR MANE-Select; ENST00000317676.3; ENSP00000326309.2; NM_001037500.2; NP_001032589.1.
DR UCSC; uc002wvz.1; human.
DR CTD; 245937; -.
DR GeneCards; DEFB124; -.
DR HGNC; HGNC:18104; DEFB124.
DR HPA; ENSG00000180383; Tissue enhanced (fallopian tube, testis).
DR neXtProt; NX_Q8NES8; -.
DR OpenTargets; ENSG00000180383; -.
DR PharmGKB; PA38500; -.
DR VEuPathDB; HostDB:ENSG00000180383; -.
DR eggNOG; ENOG502TF15; Eukaryota.
DR GeneTree; ENSGT00530000064308; -.
DR HOGENOM; CLU_181906_4_0_1; -.
DR InParanoid; Q8NES8; -.
DR OMA; FMHLCPD; -.
DR OrthoDB; 1608867at2759; -.
DR PhylomeDB; Q8NES8; -.
DR PathwayCommons; Q8NES8; -.
DR Reactome; R-HSA-1461957; Beta defensins.
DR Reactome; R-HSA-1461973; Defensins.
DR SignaLink; Q8NES8; -.
DR BioGRID-ORCS; 245937; 11 hits in 1068 CRISPR screens.
DR GenomeRNAi; 245937; -.
DR Pharos; Q8NES8; Tbio.
DR PRO; PR:Q8NES8; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8NES8; protein.
DR Bgee; ENSG00000180383; Expressed in right uterine tube and 106 other tissues.
DR Genevisible; Q8NES8; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0071224; P:cellular response to peptidoglycan; IDA:UniProtKB.
DR GO; GO:0042742; P:defense response to bacterium; IEA:UniProtKB-KW.
DR GO; GO:0007249; P:I-kappaB kinase/NF-kappaB signaling; IDA:UniProtKB.
DR GO; GO:0045087; P:innate immune response; IEA:InterPro.
DR GO; GO:0071651; P:positive regulation of chemokine (C-C motif) ligand 5 production; IDA:UniProtKB.
DR GO; GO:2000343; P:positive regulation of chemokine (C-X-C motif) ligand 2 production; IDA:UniProtKB.
DR GO; GO:0032722; P:positive regulation of chemokine production; IDA:UniProtKB.
DR GO; GO:0032735; P:positive regulation of interleukin-12 production; IDA:UniProtKB.
DR GO; GO:0032743; P:positive regulation of interleukin-2 production; IDA:UniProtKB.
DR GO; GO:0032755; P:positive regulation of interleukin-6 production; IDA:UniProtKB.
DR GO; GO:0090026; P:positive regulation of monocyte chemotaxis; IDA:UniProtKB.
DR InterPro; IPR025933; Beta_defensin.
DR Pfam; PF13841; Defensin_beta_2; 1.
PE 1: Evidence at protein level;
KW Antibiotic; Antimicrobial; Defensin; Disulfide bond; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..71
FT /note="Beta-defensin 124"
FT /id="PRO_0000045352"
FT DISULFID 27..54
FT /evidence="ECO:0000250"
FT DISULFID 34..48
FT /evidence="ECO:0000250"
FT DISULFID 38..55
FT /evidence="ECO:0000250"
SQ SEQUENCE 71 AA; 8058 MW; 1BF1F37F41E21049 CRC64;
MTQLLLFLVA LLVLGHVPSG RSEFKRCWKG QGACQTYCTR QETYMHLCPD ASLCCLSYAL
KPPPVPKHEY E
