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Beta-defensin 127 (Beta-defensin 27) (DEFB-27) (Defensin, beta 127)

 DB127_HUMAN             Reviewed;          99 AA.
Q9H1M4; Q14DW7;
10-OCT-2002, integrated into UniProtKB/Swiss-Prot.
01-MAR-2001, sequence version 1.
20-JUN-2018, entry version 123.
RecName: Full=Beta-defensin 127;
AltName: Full=Beta-defensin 27;
Short=DEFB-27;
AltName: Full=Defensin, beta 127;
Flags: Precursor;
Name=DEFB127; Synonyms=C20orf73, DEFB27; ORFNames=UNQ1956/PRO6071;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Testis;
PubMed=12620395; DOI=10.1016/S0888-7543(02)00034-4;
Rodriguez-Jimenez F.-J., Krause A., Schulz S., Forssmann W.-G.,
Conejo-Garcia J.-R., Schreeb R., Motzkus D.;
"Distribution of new human beta-defensin genes clustered on chromosome
20 in functionally different segments of epididymis.";
Genomics 81:175-183(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=12975309; DOI=10.1101/gr.1293003;
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins: a
bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=11780052; DOI=10.1038/414865a;
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [MRNA] OF 19-77, IDENTIFICATION, AND VARIANTS
ARG-31 AND SER-71.
TISSUE=B-cell, Fetal lung, and Testis;
PubMed=11854508; DOI=10.1073/pnas.042692699;
Schutte B.C., Mitros J.P., Bartlett J.A., Walters J.D., Jia H.P.,
Welsh M.J., Casavant T.L., McCray P.B. Jr.;
"Discovery of five conserved beta-defensin gene clusters using a
computational search strategy.";
Proc. Natl. Acad. Sci. U.S.A. 99:2129-2133(2002).
[6]
PROTEIN SEQUENCE OF 21-35.
PubMed=15340161; DOI=10.1110/ps.04682504;
Zhang Z., Henzel W.J.;
"Signal peptide prediction based on analysis of experimentally
verified cleavage sites.";
Protein Sci. 13:2819-2824(2004).
-!- FUNCTION: Has antibacterial activity. {ECO:0000305}.
-!- INTERACTION:
O14948:TFEC; NbExp=3; IntAct=EBI-10305240, EBI-3916574;
-!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
-!- SIMILARITY: Belongs to the beta-defensin family. {ECO:0000305}.
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EMBL; AF525929; AAP47222.1; -; mRNA.
EMBL; AY358796; AAQ89156.1; -; mRNA.
EMBL; AL360078; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC069486; AAH69486.1; -; mRNA.
EMBL; BC109395; AAI09396.1; -; mRNA.
EMBL; AY122479; AAM93920.1; -; mRNA.
CCDS; CCDS12991.1; -.
RefSeq; NP_620713.1; NM_139074.3.
UniGene; Hs.99362; -.
ProteinModelPortal; Q9H1M4; -.
SMR; Q9H1M4; -.
BioGrid; 126734; 14.
IntAct; Q9H1M4; 3.
STRING; 9606.ENSP00000371825; -.
DMDM; 23813958; -.
PaxDb; Q9H1M4; -.
PRIDE; Q9H1M4; -.
ProteomicsDB; 80430; -.
DNASU; 140850; -.
Ensembl; ENST00000382388; ENSP00000371825; ENSG00000088782.
GeneID; 140850; -.
KEGG; hsa:140850; -.
UCSC; uc002wcy.2; human.
CTD; 140850; -.
EuPathDB; HostDB:ENSG00000088782.4; -.
GeneCards; DEFB127; -.
HGNC; HGNC:16206; DEFB127.
neXtProt; NX_Q9H1M4; -.
PharmGKB; PA27247; -.
eggNOG; ENOG410JEA5; Eukaryota.
eggNOG; ENOG41114BX; LUCA.
GeneTree; ENSGT00530000064502; -.
HOGENOM; HOG000112159; -.
HOVERGEN; HBG051310; -.
InParanoid; Q9H1M4; -.
OMA; CENGRYC; -.
OrthoDB; EOG091G0Y45; -.
PhylomeDB; Q9H1M4; -.
Reactome; R-HSA-1461957; Beta defensins.
Reactome; R-HSA-1461973; Defensins.
GeneWiki; DEFB127; -.
GenomeRNAi; 140850; -.
PRO; PR:Q9H1M4; -.
Proteomes; UP000005640; Chromosome 20.
Bgee; ENSG00000088782; -.
CleanEx; HS_DEFB127; -.
Genevisible; Q9H1M4; HS.
GO; GO:0009986; C:cell surface; IBA:GO_Central.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0061844; P:antimicrobial humoral immune response mediated by antimicrobial peptide; IDA:UniProtKB.
GO; GO:0042742; P:defense response to bacterium; TAS:UniProtKB.
GO; GO:0050829; P:defense response to Gram-negative bacterium; IDA:UniProtKB.
GO; GO:0045087; P:innate immune response; TAS:UniProtKB.
InterPro; IPR025933; Beta_defensin.
PANTHER; PTHR15001; PTHR15001; 1.
Pfam; PF13841; Defensin_beta_2; 1.
ProDom; PD866254; PD866254; 1.
1: Evidence at protein level;
Antibiotic; Antimicrobial; Cleavage on pair of basic residues;
Complete proteome; Defensin; Direct protein sequencing;
Disulfide bond; Polymorphism; Reference proteome; Secreted; Signal.
SIGNAL 1 20 {ECO:0000269|PubMed:15340161}.
PEPTIDE 21 63 Beta-defensin 127.
/FTId=PRO_0000007002.
PROPEP 66 99 {ECO:0000255}.
/FTId=PRO_0000007003.
DISULFID 24 53 {ECO:0000250}.
DISULFID 33 47 {ECO:0000250}.
DISULFID 37 54 {ECO:0000250}.
VARIANT 31 31 G -> R (in dbSNP:rs12624954).
{ECO:0000269|PubMed:11854508}.
/FTId=VAR_048864.
VARIANT 71 71 R -> S (in dbSNP:rs16995685).
{ECO:0000269|PubMed:11854508}.
/FTId=VAR_048865.
CONFLICT 74 77 PATL -> QHLH (in Ref. 5; AAM93920).
{ECO:0000305}.
SEQUENCE 99 AA; 11343 MW; C9CBDB27D17AF380 CRC64;
MGLFMIIAIL LFQKPTVTEQ LKKCWNNYVQ GHCRKICRVN EVPEALCENG RYCCLNIKEL
EACKKITKPP RPKPATLALT LQDYVTIIEN FPSLKTQST


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