DB123_HUMAN
ID DB123_HUMAN Reviewed; 67 AA.
AC Q8N688; Q5GRF8; Q5J5C7;
DT 06-DEC-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Beta-defensin 123;
DE AltName: Full=Beta-defensin 23;
DE Short=DEFB-23;
DE AltName: Full=Defensin, beta 123;
DE Flags: Precursor;
GN Name=DEFB123; Synonyms=DEFB23; ORFNames=UNQ1963/PRO4485;
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] (ISOFORM 1), AND IDENTIFICATION.
RC TISSUE=Germ cell;
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 2), 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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Hamil K.G., Hall S.H.;
RL Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
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).
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=2;
CC Name=1;
CC IsoId=Q8N688-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N688-2; Sequence=VSP_057460, VSP_057461;
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 -!- SIMILARITY: Belongs to the beta-defensin family. {ECO:0000305}.
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DR EMBL; AY122475; AAM93916.1; -; mRNA.
DR EMBL; AY501002; AAS87296.1; -; mRNA.
DR EMBL; AF479701; AAQ05840.1; -; mRNA.
DR EMBL; AY358859; AAQ89218.1; -; mRNA.
DR EMBL; AL121751; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW76445.1; -; Genomic_DNA.
DR EMBL; BC126365; AAI26366.1; -; mRNA.
DR EMBL; BC126391; AAI26392.1; -; mRNA.
DR CCDS; CCDS13180.1; -. [Q8N688-1]
DR RefSeq; NP_697019.1; NM_153324.3. [Q8N688-1]
DR AlphaFoldDB; Q8N688; -.
DR SMR; Q8N688; -.
DR BioGRID; 128849; 39.
DR STRING; 9606.ENSP00000365486; -.
DR iPTMnet; Q8N688; -.
DR PhosphoSitePlus; Q8N688; -.
DR BioMuta; DEFB123; -.
DR DMDM; 26392719; -.
DR MassIVE; Q8N688; -.
DR PaxDb; Q8N688; -.
DR PeptideAtlas; Q8N688; -.
DR PRIDE; Q8N688; -.
DR ProteomicsDB; 72142; -. [Q8N688-1]
DR DNASU; 245936; -.
DR Ensembl; ENST00000376309.4; ENSP00000365486.3; ENSG00000180424.7. [Q8N688-1]
DR GeneID; 245936; -.
DR KEGG; hsa:245936; -.
DR MANE-Select; ENST00000376309.4; ENSP00000365486.3; NM_153324.4; NP_697019.1.
DR UCSC; uc002wvy.4; human. [Q8N688-1]
DR CTD; 245936; -.
DR GeneCards; DEFB123; -.
DR HGNC; HGNC:18103; DEFB123.
DR HPA; ENSG00000180424; Group enriched (epididymis, testis).
DR MIM; 616076; gene.
DR neXtProt; NX_Q8N688; -.
DR PharmGKB; PA38499; -.
DR VEuPathDB; HostDB:ENSG00000180424; -.
DR eggNOG; ENOG502TIGY; Eukaryota.
DR GeneTree; ENSGT00940000162385; -.
DR HOGENOM; CLU_181906_2_0_1; -.
DR InParanoid; Q8N688; -.
DR OMA; VYVYCTN; -.
DR OrthoDB; 1606248at2759; -.
DR PhylomeDB; Q8N688; -.
DR TreeFam; TF336381; -.
DR PathwayCommons; Q8N688; -.
DR Reactome; R-HSA-1461957; Beta defensins.
DR Reactome; R-HSA-1461973; Defensins.
DR BioGRID-ORCS; 245936; 11 hits in 1049 CRISPR screens.
DR GenomeRNAi; 245936; -.
DR Pharos; Q8N688; Tdark.
DR PRO; PR:Q8N688; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8N688; protein.
DR Bgee; ENSG00000180424; Expressed in right testis and 91 other tissues.
DR Genevisible; Q8N688; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0042742; P:defense response to bacterium; IEA:UniProtKB-KW.
DR GO; GO:0045087; P:innate immune response; IEA:InterPro.
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..20
FT /evidence="ECO:0000255"
FT PEPTIDE 21..67
FT /note="Beta-defensin 123"
FT /id="PRO_0000006994"
FT DISULFID 25..52
FT /evidence="ECO:0000250"
FT DISULFID 32..46
FT /evidence="ECO:0000250"
FT DISULFID 36..53
FT /evidence="ECO:0000250"
FT VAR_SEQ 20..28
FT /note="GGTQRCWNL -> DLSNPESTC (in isoform 2)"
FT /evidence="ECO:0000305|PubMed:15772680"
FT /id="VSP_057460"
FT VAR_SEQ 29..67
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305|PubMed:15772680"
FT /id="VSP_057461"
SQ SEQUENCE 67 AA; 8105 MW; 94EBFE98C9086D72 CRC64;
MKLLLLTLTV LLLLSQLTPG GTQRCWNLYG KCRYRCSKKE RVYVYCINNK MCCVKPKYQP
KERWWPF
