DB127_HUMAN
ID DB127_HUMAN Reviewed; 99 AA.
AC Q9H1M4; Q14DW7;
DT 10-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Beta-defensin 127;
DE AltName: Full=Beta-defensin 27;
DE Short=DEFB-27;
DE AltName: Full=Defensin, beta 127;
DE Flags: Precursor;
GN Name=DEFB127; Synonyms=C20orf73, DEFB27; ORFNames=UNQ1956/PRO6071;
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].
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 [2]
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 [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 19-77, IDENTIFICATION, AND VARIANTS ARG-31
RP AND SER-71.
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 [6]
RP PROTEIN SEQUENCE OF 21-35.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
CC -!- FUNCTION: Has antibacterial activity. {ECO:0000305}.
CC -!- INTERACTION:
CC Q9H1M4; Q13520: AQP6; NbExp=3; IntAct=EBI-10305240, EBI-13059134;
CC Q9H1M4; Q8WWH4: ASZ1; NbExp=3; IntAct=EBI-10305240, EBI-12239061;
CC Q9H1M4; Q9NWT8: AURKAIP1; NbExp=3; IntAct=EBI-10305240, EBI-448665;
CC Q9H1M4; Q9BXK5: BCL2L13; NbExp=3; IntAct=EBI-10305240, EBI-747430;
CC Q9H1M4; P11912: CD79A; NbExp=3; IntAct=EBI-10305240, EBI-7797864;
CC Q9H1M4; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-10305240, EBI-18013275;
CC Q9H1M4; Q15125: EBP; NbExp=3; IntAct=EBI-10305240, EBI-3915253;
CC Q9H1M4; Q8TBP5: FAM174A; NbExp=3; IntAct=EBI-10305240, EBI-18636064;
CC Q9H1M4; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-10305240, EBI-373355;
CC Q9H1M4; Q8N4V1: MMGT1; NbExp=3; IntAct=EBI-10305240, EBI-6163737;
CC Q9H1M4; Q8IYJ0: PIANP; NbExp=3; IntAct=EBI-10305240, EBI-12204277;
CC Q9H1M4; O14948: TFEC; NbExp=3; IntAct=EBI-10305240, EBI-3916574;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the beta-defensin family. {ECO:0000305}.
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DR EMBL; AF525929; AAP47222.1; -; mRNA.
DR EMBL; AY358796; AAQ89156.1; -; mRNA.
DR EMBL; AL360078; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC069486; AAH69486.1; -; mRNA.
DR EMBL; BC109395; AAI09396.1; -; mRNA.
DR EMBL; AY122479; AAM93920.1; -; mRNA.
DR CCDS; CCDS12991.1; -.
DR RefSeq; NP_620713.1; NM_139074.3.
DR AlphaFoldDB; Q9H1M4; -.
DR SMR; Q9H1M4; -.
DR BioGRID; 126734; 26.
DR IntAct; Q9H1M4; 24.
DR STRING; 9606.ENSP00000371825; -.
DR BioMuta; DEFB127; -.
DR DMDM; 23813958; -.
DR MassIVE; Q9H1M4; -.
DR PaxDb; Q9H1M4; -.
DR PeptideAtlas; Q9H1M4; -.
DR PRIDE; Q9H1M4; -.
DR ProteomicsDB; 80430; -.
DR Antibodypedia; 54077; 5 antibodies from 1 providers.
DR DNASU; 140850; -.
DR Ensembl; ENST00000382388.4; ENSP00000371825.3; ENSG00000088782.5.
DR GeneID; 140850; -.
DR KEGG; hsa:140850; -.
DR MANE-Select; ENST00000382388.4; ENSP00000371825.3; NM_139074.4; NP_620713.1.
DR UCSC; uc002wcy.2; human.
DR CTD; 140850; -.
DR DisGeNET; 140850; -.
DR GeneCards; DEFB127; -.
DR HGNC; HGNC:16206; DEFB127.
DR HPA; ENSG00000088782; Tissue enriched (epididymis).
DR neXtProt; NX_Q9H1M4; -.
DR PharmGKB; PA27247; -.
DR VEuPathDB; HostDB:ENSG00000088782; -.
DR eggNOG; ENOG502TFAJ; Eukaryota.
DR GeneTree; ENSGT00530000064502; -.
DR HOGENOM; CLU_181906_1_0_1; -.
DR InParanoid; Q9H1M4; -.
DR OMA; QLKKCWG; -.
DR OrthoDB; 1495393at2759; -.
DR PhylomeDB; Q9H1M4; -.
DR PathwayCommons; Q9H1M4; -.
DR Reactome; R-HSA-1461957; Beta defensins.
DR Reactome; R-HSA-1461973; Defensins.
DR SignaLink; Q9H1M4; -.
DR BioGRID-ORCS; 140850; 8 hits in 993 CRISPR screens.
DR GeneWiki; DEFB127; -.
DR GenomeRNAi; 140850; -.
DR Pharos; Q9H1M4; Tbio.
DR PRO; PR:Q9H1M4; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H1M4; protein.
DR Bgee; ENSG00000088782; Expressed in corpus epididymis and 8 other tissues.
DR Genevisible; Q9H1M4; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0061844; P:antimicrobial humoral immune response mediated by antimicrobial peptide; IDA:UniProtKB.
DR GO; GO:0042742; P:defense response to bacterium; TAS:UniProtKB.
DR GO; GO:0050829; P:defense response to Gram-negative bacterium; IDA:UniProtKB.
DR GO; GO:0045087; P:innate immune response; TAS:UniProtKB.
DR InterPro; IPR025933; Beta_defensin.
DR Pfam; PF13841; Defensin_beta_2; 1.
PE 1: Evidence at protein level;
KW Antibiotic; Antimicrobial; Cleavage on pair of basic residues; Defensin;
KW Direct protein sequencing; Disulfide bond; Reference proteome; Secreted;
KW Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000269|PubMed:15340161"
FT PEPTIDE 21..63
FT /note="Beta-defensin 127"
FT /id="PRO_0000007002"
FT PROPEP 66..99
FT /evidence="ECO:0000255"
FT /id="PRO_0000007003"
FT DISULFID 24..53
FT /evidence="ECO:0000250"
FT DISULFID 33..47
FT /evidence="ECO:0000250"
FT DISULFID 37..54
FT /evidence="ECO:0000250"
FT VARIANT 31
FT /note="G -> R (in dbSNP:rs12624954)"
FT /evidence="ECO:0000269|PubMed:11854508"
FT /id="VAR_048864"
FT VARIANT 71
FT /note="R -> S (in dbSNP:rs16995685)"
FT /evidence="ECO:0000269|PubMed:11854508"
FT /id="VAR_048865"
FT CONFLICT 74..77
FT /note="PATL -> QHLH (in Ref. 5; AAM93920)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 99 AA; 11343 MW; C9CBDB27D17AF380 CRC64;
MGLFMIIAIL LFQKPTVTEQ LKKCWNNYVQ GHCRKICRVN EVPEALCENG RYCCLNIKEL
EACKKITKPP RPKPATLALT LQDYVTIIEN FPSLKTQST
