LOCUS       NM_030931                434 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens defensin beta 126 (DEFB126), transcript variant 1,
            mRNA.
ACCESSION   NM_030931
VERSION     NM_030931.4
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 434)
  AUTHORS   He,J.Y., Peng,J.Y., Li,Q.F., Lin,X.L., Cui,Y.R., Ma,S.Y., Fan,S.Y.,
            Liu,Y.R., Song,Z.L., Deng,J.H., Wei,X. and Ding,X.P.
  TITLE     DEFB126 polymorphisms and association with idiopathic
            asthenozoospermia in China
  JOURNAL   Asian J Androl 24 (6), 607-614 (2022)
   PUBMED   35381696
  REMARK    GeneRIF: <i>DEFB126</i> polymorphisms and association with
            idiopathic asthenozoospermia in China.
REFERENCE   2  (bases 1 to 434)
  AUTHORS   Aram,R., Chan,P.T.K. and Cyr,D.G.
  TITLE     Beta-defensin126 is correlated with sperm motility in fertile and
            infertile mendagger
  JOURNAL   Biol Reprod 102 (1), 92-101 (2020)
   PUBMED   31504198
  REMARK    GeneRIF: Beta-defensin126 is correlated with sperm motility in
            fertile and infertile mendagger.
REFERENCE   3  (bases 1 to 434)
  AUTHORS   Boroujeni,P.B., Ebrahimian,S., Abedini,M., Chayjan,M.R.,
            Hassani,M., Gourabi,H., Sadighi-Gilani,M.A., Sabbaghian,M. and
            Meybodi,A.M.
  TITLE     The role of DEFB126 variation in male infertility and medically
            assisted reproduction technique outcome
  JOURNAL   Reprod Biomed Online 39 (4), 649-657 (2019)
   PUBMED   31474436
  REMARK    GeneRIF: The role of DEFB126 variation in male infertility and
            medically assisted reproduction technique outcome.
REFERENCE   4  (bases 1 to 434)
  AUTHORS   Ishida,A., Wada,T., Ogami,K., Ueda,T. and Sakurai,K.
  TITLE     Influence of chewing on expression level of human beta-defensin 2
            and secretory immunoglobulin A in the epithelium
  JOURNAL   J Prosthodont Res 63 (2), 162-166 (2019)
   PUBMED   30529003
  REMARK    GeneRIF: It is a immune component extensively expressed in mucosa
            and epidermis, which are responsible for the first line of host
            defense.
REFERENCE   5  (bases 1 to 434)
  AUTHORS   Duan,S., Shi,C., Chen,G., Zheng,J.F., Wu,B., Diao,H., Ji,L., Gu,Y.,
            Xin,A., Wu,Y., Zhou,W., Miao,M., Xu,L., Li,Z., Yuan,Y., Wang,P. and
            Shi,H.
  TITLE     Another functional frame-shift polymorphism of DEFB126 (rs11467497)
            associated with male infertility
  JOURNAL   J Cell Mol Med 19 (5), 1077-1084 (2015)
   PUBMED   25721098
  REMARK    GeneRIF: Data indicate a significant contribution of the
            frame-shift polymorphism of defensin beta 126 (DEFB126) rs11467497
            to male infertility.
REFERENCE   6  (bases 1 to 434)
  AUTHORS   Liu,H., Yu,H., Gu,Y., Xin,A., Zhang,Y., Diao,H. and Lin,D.
  TITLE     Human beta-defensin DEFB126 is capable of inhibiting LPS-mediated
            inflammation
  JOURNAL   Appl Microbiol Biotechnol 97 (8), 3395-3408 (2013)
   PUBMED   23229569
  REMARK    GeneRIF: These results demonstrate that the DEFB126 core peptide
            has critical functions in parallel to its C-terminal tail by
            showing LPS-binding activity, anti-inflammatory effects and
            intracellular regulatory function. In addition, DEFB126 displays
            antimicrobial activity against E. coli, S. aureus, and C. elegans.
REFERENCE   7  (bases 1 to 434)
  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   8  (bases 1 to 434)
  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
REFERENCE   9  (bases 1 to 434)
  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   10 (bases 1 to 434)
  AUTHORS   Perry,A.C., Jones,R., Moisyadi,S., Coadwell,J. and Hall,L.
  TITLE     The novel epididymal secretory protein ESP13.2 in Macaca
            fascicularis
  JOURNAL   Biol Reprod 61 (4), 965-972 (1999)
   PUBMED   10491631
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX108307.1 and AA400429.1.
            
            On Nov 23, 2018 this sequence version replaced NM_030931.3.
            
            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. The encoded protein is highly
            similar to an epididymal-specific secretory protein (ESP13.2) from
            cynomolgus monkey. Mutation of this gene is associated with
            impaired sperm function. [provided by RefSeq, Nov 2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225987.1, BX108307.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000382398.4/
                                                  ENSP00000371835.3
            Protein has antimicrobial activity :: PMID: 23229569
            RefSeq Select criteria             :: based on expression, longest
                                                  protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-330               BX108307.1         221-550
            331-434             AA400429.1         8-111               c
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..434
                     /gene="DEFB126"
                     /gene_synonym="bA530N10.1; C20orf8; DEFB-26; DEFB26;
                     hBD-26; HBD26"
                     /note="defensin beta 126"
                     /db_xref="GeneID:81623"
                     /db_xref="HGNC:HGNC:15900"
                     /db_xref="MIM:620131"
     exon            1..97
                     /gene="DEFB126"
                     /gene_synonym="bA530N10.1; C20orf8; DEFB-26; DEFB26;
                     hBD-26; HBD26"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..375
                     /gene="DEFB126"
                     /gene_synonym="bA530N10.1; C20orf8; DEFB-26; DEFB26;
                     hBD-26; HBD26"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; epididymal secretory protein ESP13.2;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="beta-defensin 126 isoform 1 preproprotein"
                     /protein_id="NP_112193.1"
                     /db_xref="CCDS:CCDS12990.1"
                     /db_xref="GeneID:81623"
                     /db_xref="HGNC:HGNC:15900"
                     /db_xref="MIM:620131"
                     /translation="MKSLLFTLAVFMLLAQLVSGNWYVKKCLNDVGICKKKCKPEEMH
                     VKNGWAMCGKQRDCCVPADRRANYPVFCVQTKTTRISTVTATTATTTLMMTTASMSSM
                     APTPVSPTG"
     exon            98..434
                     /gene="DEFB126"
                     /gene_synonym="bA530N10.1; C20orf8; DEFB-26; DEFB26;
                     hBD-26; HBD26"
                     /inference="alignment:Splign:2.1.0"
     regulatory      416..421
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEFB126"
                     /gene_synonym="bA530N10.1; C20orf8; DEFB-26; DEFB26;
                     hBD-26; HBD26"
                     /note="hexamer: ATTAAA"
     polyA_site      434
                     /gene="DEFB126"
                     /gene_synonym="bA530N10.1; C20orf8; DEFB-26; DEFB26;
                     hBD-26; HBD26"
                     /note="major polyA site"
ORIGIN      
        1 atagagactt ctggactcta tagaacccac tgcctcctga tgaagtccct actgttcacc
       61 cttgcagttt ttatgctcct ggcccaattg gtctcaggta attggtatgt gaaaaagtgt
      121 ctaaacgacg ttggaatttg caagaagaag tgcaaacctg aagagatgca tgtaaagaat
      181 ggttgggcaa tgtgcggcaa acaaagggac tgctgtgttc cagctgacag acgtgctaat
      241 tatcctgttt tctgtgtcca gacaaagact acaagaattt caacagtaac agcaacaaca
      301 gcaacaacaa ctttgatgat gactactgct tcgatgtctt cgatggctcc tacccccgtt
      361 tctcccactg gttgaacatt ccagcctctg tctcctgctc taggatcccc gactcattaa
      421 agcaaagagg ctta
//
