LOCUS       NM_139074                530 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens defensin beta 127 (DEFB127), mRNA.
ACCESSION   NM_139074
VERSION     NM_139074.4
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 530)
  AUTHORS   Antikainen,A.A.V., Sandholm,N., Tregouet,D.A., Charmet,R.,
            McKnight,A.J., Ahluwalia,T.S., Syreeni,A., Valo,E., Forsblom,C.,
            Gordin,D., Harjutsalo,V., Hadjadj,S., Maxwell,A.P., Rossing,P. and
            Groop,P.H.
  TITLE     Genome-wide association study on coronary artery disease in type 1
            diabetes suggests beta-defensin 127 as a risk locus
  JOURNAL   Cardiovasc Res 117 (2), 600-612 (2021)
   PUBMED   32077919
  REMARK    GeneRIF: Genome-wide association study on coronary artery disease
            in type 1 diabetes suggests beta-defensin 127 as a risk locus.
REFERENCE   2  (bases 1 to 530)
  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   3  (bases 1 to 530)
  AUTHORS   Huang,L., Leong,S.S. and Jiang,R.
  TITLE     Soluble fusion expression and characterization of bioactive human
            beta-defensin 26 and 27
  JOURNAL   Appl Microbiol Biotechnol 84 (2), 301-308 (2009)
   PUBMED   19373462
REFERENCE   4  (bases 1 to 530)
  AUTHORS   Rajaraman,P., Brenner,A.V., Butler,M.A., Wang,S.S., Pfeiffer,R.M.,
            Ruder,A.M., Linet,M.S., Yeager,M., Wang,Z., Orr,N., Fine,H.A.,
            Kwon,D., Thomas,G., Rothman,N., Inskip,P.D. and Chanock,S.J.
  TITLE     Common variation in genes related to innate immunity and risk of
            adult glioma
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (5), 1651-1658 (2009)
   PUBMED   19423540
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 530)
  AUTHORS   Hollox,E.J. and Armour,J.A.
  TITLE     Directional and balancing selection in human beta-defensins
  JOURNAL   BMC Evol Biol 8, 113 (2008)
   PUBMED   18416833
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 530)
  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   7  (bases 1 to 530)
  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   8  (bases 1 to 530)
  AUTHORS   van Wetering,S., Sterk,P.J., Rabe,K.F. and Hiemstra,P.S.
  TITLE     Defensins: key players or bystanders in infection, injury, and
            repair in the lung?
  JOURNAL   J Allergy Clin Immunol 104 (6), 1131-1138 (1999)
   PUBMED   10588992
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL360078.16, AA454191.1,
            AY358796.1 and AY122479.1.
            
            On May 17, 2019 this sequence version replaced NM_139074.3.
            
            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 :: AY358796.1, AA454191.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145774, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000382388.4/
                                                  ENSP00000371825.3
            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
            1-16                AL360078.16        76152-76167
            17-85               AA454191.1         1-69
            86-86               AL360078.16        76237-76237
            87-470              AY358796.1         59-442
            471-471             AL360078.16        77802-77802
            472-530             AY122479.1         323-381
FEATURES             Location/Qualifiers
     source          1..530
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..530
                     /gene="DEFB127"
                     /gene_synonym="bA530N10.2; C20orf73; DEF-27; DEFB-27;
                     DEFB27; hBD-27"
                     /note="defensin beta 127"
                     /db_xref="GeneID:140850"
                     /db_xref="HGNC:HGNC:16206"
     exon            1..140
                     /gene="DEFB127"
                     /gene_synonym="bA530N10.2; C20orf73; DEF-27; DEFB-27;
                     DEFB27; hBD-27"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..391
                     /gene="DEFB127"
                     /gene_synonym="bA530N10.2; C20orf73; DEF-27; DEFB-27;
                     DEFB27; hBD-27"
                     /note="beta-defensin 127; beta-defensin 27"
                     /codon_start=1
                     /product="beta-defensin 127 preproprotein"
                     /protein_id="NP_620713.1"
                     /db_xref="CCDS:CCDS12991.1"
                     /db_xref="GeneID:140850"
                     /db_xref="HGNC:HGNC:16206"
                     /translation="MGLFMIIAILLFQKPTVTEQLKKCWNNYVQGHCRKICRVNEVPE
                     ALCENGRYCCLNIKELEACKKITKPPRPKPATLALTLQDYVTIIENFPSLKTQST"
     exon            141..530
                     /gene="DEFB127"
                     /gene_synonym="bA530N10.2; C20orf73; DEF-27; DEFB-27;
                     DEFB27; hBD-27"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcataagaat ctaagtctct gaggaaggta gcatagtgtg cagttcactg gaccaaaagc
       61 tttggctgca cctcttctgg aaagcctggc catggggctc ttcatgatca ttgcaattct
      121 gctgttccag aaacccacag taaccgaaca acttaagaag tgctggaata actatgtaca
      181 aggacattgc aggaaaatct gcagagtaaa tgaagtgcct gaggcactat gtgaaaatgg
      241 gagatactgt tgcctcaata tcaaggaact ggaagcatgt aaaaaaatta caaagccacc
      301 tcgtccaaag ccagcaacac ttgcactgac tcttcaagac tatgttacaa taatagaaaa
      361 tttcccaagc ctgaagacac agtctacata aatcaaatac aatttcgttt tcacttgctt
      421 ctcaacctag tctaataaac taaggtgatg agatatacat cttcttcctt ttggtttctt
      481 gatccttaaa atgaccttcg agcatattct aataaagtgc attgccagtt
//
