LOCUS       NM_153289                444 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens defensin beta 119 (DEFB119), transcript variant 1,
            mRNA.
ACCESSION   NM_153289
VERSION     NM_153289.4
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 444)
  AUTHORS   Li,X., Yuan,C., Shi,J., Kang,H., Chen,Y., Duan,Y., Jin,J.,
            Cheung,L.P., Li,T.C., Liu,Y., Cui,Y., Ruan,Y.C., Jiang,X., Cai,Z.,
            Chan,H.C., Ji,L., Zeng,X., Liu,J., Chen,H. and Fok,K.L.
  TITLE     beta-Defensin 19/119 mediates sperm chemotaxis and is associated
            with idiopathic infertility
  JOURNAL   Cell Rep Med 3 (12), 100825 (2022)
   PUBMED   36513070
  REMARK    GeneRIF: beta-Defensin 19/119 mediates sperm chemotaxis and is
            associated with idiopathic infertility.
REFERENCE   2  (bases 1 to 444)
  AUTHORS   Liu,H., Yu,H., Xin,A., Shi,H., Gu,Y., Zhang,Y., Diao,H. and Lin,D.
  TITLE     Production and characterization of recombinant human beta-defensin
            DEFB120
  JOURNAL   J Pept Sci 20 (4), 251-257 (2014)
   PUBMED   24449502
REFERENCE   3  (bases 1 to 444)
  AUTHORS   Pazgier,M., Hoover,D.M., Yang,D., Lu,W. and Lubkowski,J.
  TITLE     Human beta-defensins
  JOURNAL   Cell Mol Life Sci 63 (11), 1294-1313 (2006)
   PUBMED   16710608
  REMARK    Review article
REFERENCE   4  (bases 1 to 444)
  AUTHORS   Radhakrishnan,Y., Hamil,K.G., Yenugu,S., Young,S.L., French,F.S.
            and Hall,S.H.
  TITLE     Identification, characterization, and evolution of a primate
            beta-defensin gene cluster
  JOURNAL   Genes Immun 6 (3), 203-210 (2005)
   PUBMED   15772680
  REMARK    GeneRIF: A couple of isoforms encoded by this gene are thought to
            display antimicrobial activity.
REFERENCE   5  (bases 1 to 444)
  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 444)
  AUTHORS   Lehrer,R.I. and Ganz,T.
  TITLE     Defensins of vertebrate animals
  JOURNAL   Curr Opin Immunol 14 (1), 96-102 (2002)
   PUBMED   11790538
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY035342.1, AL121751.12,
            AY122472.1 and BU561156.1.
            
            On Nov 23, 2018 this sequence version replaced NM_153289.3.
            
            Summary: This gene encodes a member of the beta subfamily of
            defensins. Beta-defensins are antimicrobial peptides that protect
            tissues and organs from infection by a variety of microorganisms.
            This gene is found in a cluster with other beta-defensin genes on
            the long arm of chromosome 20. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Nov 2014].
            
            Transcript Variant: This variant (1) contains an alternate 3' exon,
            compared to variant 3 resulting in a different 3' coding region and
            3' UTR. The encoded isoform (a) is shorter and has a distinct
            C-terminus, compared to isoform c.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC062212.1, AY122472.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376321.4/ ENSP00000365499.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-152               HY035342.1         60-211
            153-160             AL121751.12        5584-5591           c
            161-443             AY122472.1         174-456
            444-444             BU561156.1         354-354
FEATURES             Location/Qualifiers
     source          1..444
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..444
                     /gene="DEFB119"
                     /gene_synonym="DEFB-19; DEFB-20; DEFB120; DEFB20;
                     ESC42-RELA; ESC42-RELB"
                     /note="defensin beta 119"
                     /db_xref="GeneID:245932"
                     /db_xref="HGNC:HGNC:18099"
                     /db_xref="MIM:615997"
     exon            1..168
                     /gene="DEFB119"
                     /gene_synonym="DEFB-19; DEFB-20; DEFB120; DEFB20;
                     ESC42-RELA; ESC42-RELB"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..362
                     /gene="DEFB119"
                     /gene_synonym="DEFB-19; DEFB-20; DEFB120; DEFB20;
                     ESC42-RELA; ESC42-RELB"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; defensin, beta 19; defensin, beta 120;
                     defensin, beta 20"
                     /codon_start=1
                     /product="beta-defensin 119 isoform a precursor"
                     /protein_id="NP_695021.2"
                     /db_xref="CCDS:CCDS13178.1"
                     /db_xref="GeneID:245932"
                     /db_xref="HGNC:HGNC:18099"
                     /db_xref="MIM:615997"
                     /translation="MKLLYLFLAILLAIEEPVISGKRHILRCMGNSGICRASCKKNEQ
                     PYLYCRNCQSCCLQSYMRISISGKEENTDWSYEKQWPRLP"
     exon            169..444
                     /gene="DEFB119"
                     /gene_synonym="DEFB-19; DEFB-20; DEFB120; DEFB20;
                     ESC42-RELA; ESC42-RELB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      423..428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEFB119"
                     /gene_synonym="DEFB-19; DEFB-20; DEFB120; DEFB20;
                     ESC42-RELA; ESC42-RELB"
                     /note="hexamer: ATTAAA"
     polyA_site      444
                     /gene="DEFB119"
                     /gene_synonym="DEFB-19; DEFB-20; DEFB120; DEFB20;
                     ESC42-RELA; ESC42-RELB"
                     /note="major polyA site"
ORIGIN      
        1 gcccacagcc ctgctgataa aagcaaagct catctctgcc gtgctgcagg gaaccctatt
       61 tccttcccct gcagctcagc cacctcctcc tctcaggtct gccagccatg aaacttcttt
      121 acctgtttct tgccatcctt ctggccatag aagaaccagt gatatcaggc aaacgccaca
      181 tccttcgatg catgggtaac agtggaattt gtagggcctc ttgcaaaaag aacgaacagc
      241 cctacctcta ttgcagaaat tgtcagtcct gctgcctcca gtcctacatg aggataagca
      301 tttctggcaa agaggaaaat accgactggt cttatgagaa gcagtggcca agactacctt
      361 gagtgctggt gattaccatt ctcaagctct ctgggcacag agacctgctg tcaacccccc
      421 tcattaaaat tcatgtgcct gcta
//
