DB129_HUMAN
ID DB129_HUMAN Reviewed; 183 AA.
AC Q9H1M3; Q8NES7;
DT 06-DEC-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Beta-defensin 129;
DE AltName: Full=Beta-defensin 29;
DE Short=DEFB-29;
DE AltName: Full=Defensin, beta 129;
DE Flags: Precursor;
GN Name=DEFB129; Synonyms=C20orf87, DEFB29; ORFNames=UNQ5794/PRO19599;
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], AND TISSUE SPECIFICITY.
RX PubMed=12600824; DOI=10.1165/rcmb.2002-0205oc;
RA Kao C.Y., Chen Y., Zhao Y.H., Wu R.;
RT "ORFeome-based search of airway epithelial cell-specific novel human beta-
RT defensin genes.";
RL Am. J. Respir. Cell Mol. Biol. 29:71-80(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Testis;
RX PubMed=12620395; DOI=10.1016/s0888-7543(02)00034-4;
RA Rodriguez-Jimenez F.-J., Krause A., Schulz S., Forssmann W.-G.,
RA Conejo-Garcia J.-R., Schreeb R., Motzkus D.;
RT "Distribution of new human beta-defensin genes clustered on chromosome 20
RT in functionally different segments of epididymis.";
RL Genomics 81:175-183(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-155.
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 Q9H1M3; Q6PL24: TMED8; NbExp=3; IntAct=EBI-23712762, EBI-11603430;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed specifically in testis.
CC {ECO:0000269|PubMed:12600824}.
CC -!- SIMILARITY: Belongs to the beta-defensin family. {ECO:0000305}.
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DR EMBL; AF529413; AAQ09522.1; -; mRNA.
DR EMBL; AF525931; AAP47224.1; -; mRNA.
DR EMBL; AY358186; AAQ88553.1; -; mRNA.
DR EMBL; AL360078; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC070359; AAH70359.1; -; mRNA.
DR EMBL; AY122480; AAM93921.1; -; mRNA.
DR CCDS; CCDS12992.1; -.
DR RefSeq; NP_543021.1; NM_080831.3.
DR AlphaFoldDB; Q9H1M3; -.
DR BioGRID; 126749; 3.
DR IntAct; Q9H1M3; 1.
DR STRING; 9606.ENSP00000246105; -.
DR BioMuta; DEFB129; -.
DR DMDM; 26392781; -.
DR MassIVE; Q9H1M3; -.
DR PaxDb; Q9H1M3; -.
DR PeptideAtlas; Q9H1M3; -.
DR PRIDE; Q9H1M3; -.
DR ProteomicsDB; 80429; -.
DR Antibodypedia; 22908; 57 antibodies from 17 providers.
DR DNASU; 140881; -.
DR Ensembl; ENST00000246105.4; ENSP00000246105.4; ENSG00000125903.4.
DR GeneID; 140881; -.
DR KEGG; hsa:140881; -.
DR MANE-Select; ENST00000246105.4; ENSP00000246105.4; NM_080831.4; NP_543021.1.
DR UCSC; uc002wda.3; human.
DR CTD; 140881; -.
DR GeneCards; DEFB129; -.
DR HGNC; HGNC:16218; DEFB129.
DR HPA; ENSG00000125903; Tissue enriched (epididymis).
DR neXtProt; NX_Q9H1M3; -.
DR OpenTargets; ENSG00000125903; -.
DR PharmGKB; PA27248; -.
DR VEuPathDB; HostDB:ENSG00000125903; -.
DR eggNOG; ENOG502TDUT; Eukaryota.
DR GeneTree; ENSGT00390000008616; -.
DR HOGENOM; CLU_1618467_0_0_1; -.
DR InParanoid; Q9H1M3; -.
DR OMA; VNTEYFG; -.
DR OrthoDB; 1462517at2759; -.
DR PhylomeDB; Q9H1M3; -.
DR PathwayCommons; Q9H1M3; -.
DR Reactome; R-HSA-1461957; Beta defensins.
DR Reactome; R-HSA-1461973; Defensins.
DR SignaLink; Q9H1M3; -.
DR BioGRID-ORCS; 140881; 123 hits in 1055 CRISPR screens.
DR GeneWiki; DEFB129; -.
DR GenomeRNAi; 140881; -.
DR Pharos; Q9H1M3; Tdark.
DR PRO; PR:Q9H1M3; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H1M3; protein.
DR Bgee; ENSG00000125903; Expressed in corpus epididymis and 13 other tissues.
DR ExpressionAtlas; Q9H1M3; baseline and differential.
DR Genevisible; Q9H1M3; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0042742; P:defense response to bacterium; IEA:UniProtKB-KW.
PE 1: Evidence at protein level;
KW Antibiotic; Antimicrobial; Defensin; Disulfide bond; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..183
FT /note="Beta-defensin 129"
FT /id="PRO_0000007005"
FT REGION 141..183
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 141..156
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 158..172
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT DISULFID 27..53
FT /evidence="ECO:0000250"
FT DISULFID 34..48
FT /evidence="ECO:0000250"
FT DISULFID 38..54
FT /evidence="ECO:0000250"
FT VARIANT 149
FT /note="T -> S (in dbSNP:rs1053783)"
FT /id="VAR_024327"
SQ SEQUENCE 183 AA; 20299 MW; A531A68C39F6EFF9 CRC64;
MKLLFPIFAS LMLQYQVNTE FIGLRRCLMG LGRCRDHCNV DEKEIQKCKM KKCCVGPKVV
KLIKNYLQYG TPNVLNEDVQ EMLKPAKNSS AVIQRKHILS VLPQIKSTSF FANTNFVIIP
NATPMNSATI STMTPGQITY TATSTKSNTK ESRDSATASP PPAPPPPNIL PTPSLELEEA
EEQ
