LOCUS       NM_080831                698 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens defensin beta 129 (DEFB129), mRNA.
ACCESSION   NM_080831
VERSION     NM_080831.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 698)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 698)
  AUTHORS   Kim,J.H., Cheong,H.S., Sul,J.H., Seo,J.M., Kim,D.Y., Oh,J.T.,
            Park,K.W., Kim,H.Y., Jung,S.M., Jung,K., Cho,M.J., Bae,J.S. and
            Shin,H.D.
  TITLE     A genome-wide association study identifies potential susceptibility
            loci for Hirschsprung disease
  JOURNAL   PLoS One 9 (10), e110292 (2014)
   PUBMED   25310821
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 698)
  AUTHORS   Kao,C.Y., Chen,Y., Zhao,Y.H. and Wu,R.
  TITLE     ORFeome-based search of airway epithelial cell-specific novel human
            [beta]-defensin genes
  JOURNAL   Am J Respir Cell Mol Biol 29 (1), 71-80 (2003)
   PUBMED   12600824
REFERENCE   4  (bases 1 to 698)
  AUTHORS   Rodriguez-Jimenez,F.J., Krause,A., Schulz,S., Forssmann,W.G.,
            Conejo-Garcia,J.R., Schreeb,R. and Motzkus,D.
  TITLE     Distribution of new human beta-defensin genes clustered on
            chromosome 20 in functionally different segments of epididymis
  JOURNAL   Genomics 81 (2), 175-183 (2003)
   PUBMED   12620395
  REMARK    GeneRIF: The protein encoded by this gene is thought to display
            antimicrobial activity.
REFERENCE   5  (bases 1 to 698)
  AUTHORS   Schutte,B.C., Mitros,J.P., Bartlett,J.A., Walters,J.D., Jia,H.P.,
            Welsh,M.J., Casavant,T.L. and McCray,P.B. Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
REFERENCE   6  (bases 1 to 698)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            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., 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.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., 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., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            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,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. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC070359.1, AF525931.1 and
            AI217663.1.
            
            On May 17, 2019 this sequence version replaced NM_080831.3.
            
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the immunologic response to invading microorganisms.
            The antimicrobial protein encoded by this gene is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.366842.1, GQ891507.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000246105.4/
                                                  ENSP00000246105.4
            Protein has antimicrobial activity :: PMID: 12620395
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-231               BC070359.1         1-231
            232-583             AF525931.1         201-552
            584-698             AI217663.1         3-117               c
FEATURES             Location/Qualifiers
     source          1..698
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..698
                     /gene="DEFB129"
                     /gene_synonym="bA530N10.3; C20orf87; DEFB-29; DEFB29;
                     hBD-29"
                     /note="defensin beta 129"
                     /db_xref="GeneID:140881"
                     /db_xref="HGNC:HGNC:16218"
     exon            1..89
                     /gene="DEFB129"
                     /gene_synonym="bA530N10.3; C20orf87; DEFB-29; DEFB29;
                     hBD-29"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..583
                     /gene="DEFB129"
                     /gene_synonym="bA530N10.3; C20orf87; DEFB-29; DEFB29;
                     hBD-29"
                     /note="beta-defensin 129; beta-defensin 29; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="beta-defensin 129 precursor"
                     /protein_id="NP_543021.1"
                     /db_xref="CCDS:CCDS12992.1"
                     /db_xref="GeneID:140881"
                     /db_xref="HGNC:HGNC:16218"
                     /translation="MKLLFPIFASLMLQYQVNTEFIGLRRCLMGLGRCRDHCNVDEKE
                     IQKCKMKKCCVGPKVVKLIKNYLQYGTPNVLNEDVQEMLKPAKNSSAVIQRKHILSVL
                     PQIKSTSFFANTNFVIIPNATPMNSATISTMTPGQITYTATSTKSNTKESRDSATASP
                     PPAPPPPNILPTPSLELEEAEEQ"
     exon            90..698
                     /gene="DEFB129"
                     /gene_synonym="bA530N10.3; C20orf87; DEFB-29; DEFB29;
                     hBD-29"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agattcaagg cttcctctct ggcacccaac catgaagctc ctttttccta tctttgccag
       61 cctcatgcta cagtaccagg tgaacacaga atttattggc ttgagacgct gtttaatggg
      121 tttggggaga tgcagggatc actgcaatgt ggatgaaaaa gagatacaga aatgcaagat
      181 gaaaaaatgt tgtgttggac caaaagtggt taaattgatt aaaaactacc tgcaatatgg
      241 aacaccaaat gtacttaatg aagacgtcca agaaatgcta aaacctgcca agaattctag
      301 tgctgtgata caaagaaaac atattttatc tgttctcccc caaatcaaaa gcactagctt
      361 ttttgctaat accaactttg tcatcattcc aaatgccacc cctatgaact ctgccaccat
      421 cagcactatg accccaggac agatcacata cactgctact tctaccaaga gtaacaccaa
      481 agaaagcaga gattctgcca ctgcctcgcc accaccagca ccacctccac caaacatact
      541 gccaacacca tcactggagc tagaggaagc agaagagcag taatgtggat ctttccctta
      601 aaactccaag ttcctctcta tttttgctat ctataaaatg acatagaact gtttcctctg
      661 tcatcagtca ttcaataaac actgtttgag cacctaca
//
