LOCUS       NM_005218                375 bp    mRNA    linear   PRI 13-NOV-2024
DEFINITION  Homo sapiens defensin beta 1 (DEFB1), mRNA.
ACCESSION   NM_005218
VERSION     NM_005218.4
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 375)
  AUTHORS   Fernandez-Torres,J., Zamudio-Cuevas,Y. and Martinez-Flores,K.
  TITLE     Polymorphic variation of the DEFB1 gene might contribute to the
            development of ankylosing spondylitis: a preliminary study
  JOURNAL   Mol Biol Rep 51 (1), 1051 (2024)
   PUBMED   39395079
  REMARK    GeneRIF: Polymorphic variation of the DEFB1 gene might contribute
            to the development of ankylosing spondylitis: a preliminary study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 375)
  AUTHORS   Vargas-Alarcon,G., Perez-Mendez,O., Martinez-Rios,M.A.,
            Diaz-Santillan,I., Morales-Villamil,L.A., Delgadillo-Rodriguez,H.,
            Posadas-Sanchez,R., Ramirez-Bello,J. and Fragoso,J.M.
  TITLE     The DEFB1 gene rs11362 A/G genetic variant is associated with risk
            of developing CAD: a case-control study
  JOURNAL   Acta Cardiol 79 (6), 730-736 (2024)
   PUBMED   38973431
  REMARK    GeneRIF: The DEFB1 gene rs11362 A/G genetic variant is associated
            with risk of developing CAD: a case-control study.
REFERENCE   3  (bases 1 to 375)
  AUTHORS   Sugiwaki,H., Kotani,M., Fujita,A. and Moriwaki,S.
  TITLE     Effects of Schumann resonance on the proliferation and migration of
            normal human epidermal keratinocytes and the expression of DEFB1
            and SIRT1
  JOURNAL   J Cosmet Dermatol 23 (2), 676-680 (2024)
   PUBMED   37697693
  REMARK    GeneRIF: Effects of Schumann resonance on the proliferation and
            migration of normal human epidermal keratinocytes and the
            expression of DEFB1 and SIRT1.
REFERENCE   4  (bases 1 to 375)
  AUTHORS   Fernandez-Torres,J., Zamudio-Cuevas,Y., Martinez-Flores,K. and
            Franco-Cendejas,R.
  TITLE     Relationship between biofilm-forming microorganisms (BFM:
            Staphylococcus aureus and Pseudomonas aeruginosa) and DEFB1 gene
            variants on beta-defensin levels in periprosthetic joint infection
            (PJI)
  JOURNAL   Mol Biol Rep 51 (1), 237 (2024)
   PUBMED   38285273
  REMARK    GeneRIF: Relationship between biofilm-forming microorganisms (BFM:
            Staphylococcus aureus and Pseudomonas aeruginosa) and DEFB1 gene
            variants on beta-defensin levels in periprosthetic joint infection
            (PJI).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 375)
  AUTHORS   Gursoy,U.K., Gursoy,M., Loimaranta,V. and Rautava,J.
  TITLE     Salivary Th17 cytokine, human beta-defensin 1-3, and salivary
            scavenger and agglutinin levels in Crohn's disease
  JOURNAL   Clin Oral Investig 28 (1), 108 (2024)
   PUBMED   38246944
  REMARK    GeneRIF: Salivary Th17 cytokine, human beta-defensin 1-3, and
            salivary scavenger and agglutinin levels in Crohn's disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 375)
  AUTHORS   Prado-Montes de Oca,E.
  TITLE     Human beta-defensin 1: a restless warrior against allergies,
            infections and cancer
  JOURNAL   Int J Biochem Cell Biol 42 (6), 800-804 (2010)
   PUBMED   20100591
  REMARK    GeneRIF: This gene encodes a peptide with antimicrobial activity
            against S. aureus and H. influenzae.
            Review article
REFERENCE   7  (bases 1 to 375)
  AUTHORS   McCray,P.B. Jr. and Bentley,L.
  TITLE     Human airway epithelia express a beta-defensin
  JOURNAL   Am J Respir Cell Mol Biol 16 (3), 343-349 (1997)
   PUBMED   9070620
REFERENCE   8  (bases 1 to 375)
  AUTHORS   Goldman,M.J., Anderson,G.M., Stolzenberg,E.D., Kari,U.P.,
            Zasloff,M. and Wilson,J.M.
  TITLE     Human beta-defensin-1 is a salt-sensitive antibiotic in lung that
            is inactivated in cystic fibrosis
  JOURNAL   Cell 88 (4), 553-560 (1997)
   PUBMED   9038346
REFERENCE   9  (bases 1 to 375)
  AUTHORS   Bensch,K.W., Raida,M., Magert,H.J., Schulz-Knappe,P. and
            Forssmann,W.G.
  TITLE     hBD-1: a novel beta-defensin from human plasma
  JOURNAL   FEBS Lett 368 (2), 331-335 (1995)
   PUBMED   7628632
REFERENCE   10 (bases 1 to 375)
  AUTHORS   Ganz,T. and Lehrer,R.I.
  TITLE     Defensins
  JOURNAL   Pharmacol Ther 66 (2), 191-205 (1995)
   PUBMED   7667395
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM673094.1 and BC047677.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005218.3.
            
            Summary: Defensins form a family of microbicidal and cytotoxic
            peptides made by neutrophils. Members of the defensin family are
            highly similar in protein sequence. This gene encodes defensin,
            beta 1, an antimicrobial peptide implicated in the resistance of
            epithelial surfaces to microbial colonization. This gene maps in
            close proximity to defensin family member, defensin, alpha 1 and
            has been implicated in the pathogenesis of cystic fibrosis.
            [provided by RefSeq, Jul 2008].
            
            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 :: BC033298.1, AI733397.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000297439.4/
                                                  ENSP00000297439.3
            Protein has antimicrobial activity :: PMID: 20100591
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-368               BM673094.1         23-390              c
            369-375             BC047677.1         357-363
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..375
                     /gene="DEFB1"
                     /gene_synonym="BD1; DEFB-1; DEFB101; HBD1"
                     /note="defensin beta 1"
                     /db_xref="GeneID:1672"
                     /db_xref="HGNC:HGNC:2766"
                     /db_xref="MIM:602056"
     exon            1..140
                     /gene="DEFB1"
                     /gene_synonym="BD1; DEFB-1; DEFB101; HBD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..286
                     /gene="DEFB1"
                     /gene_synonym="BD1; DEFB-1; DEFB101; HBD1"
                     /note="BD-1; beta-defensin 1"
                     /codon_start=1
                     /product="beta-defensin 1 preproprotein"
                     /protein_id="NP_005209.1"
                     /db_xref="CCDS:CCDS5959.1"
                     /db_xref="GeneID:1672"
                     /db_xref="HGNC:HGNC:2766"
                     /db_xref="MIM:602056"
                     /translation="MRTSYLLLFTLCLLLSEMASGGNFLTGLGHRSDHYNCVSSGGQC
                     LYSACPIFTKIQGTCYRGKAKCCK"
     exon            141..375
                     /gene="DEFB1"
                     /gene_synonym="BD1; DEFB-1; DEFB101; HBD1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      300
                     /gene="DEFB1"
                     /gene_synonym="BD1; DEFB-1; DEFB101; HBD1"
                     /note="major polyA site"
     regulatory      348..353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEFB1"
                     /gene_synonym="BD1; DEFB-1; DEFB101; HBD1"
                     /note="hexamer: AATAAA"
     polyA_site      375
                     /gene="DEFB1"
                     /gene_synonym="BD1; DEFB-1; DEFB101; HBD1"
                     /note="major polyA site"
ORIGIN      
        1 aagcctctgt cagctcagcc tccaaaggag ccagcgtctc cccagttcct gaaatcctgg
       61 gtgttgcctg ccagtcgcca tgagaacttc ctaccttctg ctgtttactc tctgcttact
      121 tttgtctgag atggcctcag gtggtaactt tctcacaggc cttggccaca gatctgatca
      181 ttacaattgc gtcagcagtg gagggcaatg tctctattct gcctgcccga tctttaccaa
      241 aattcaaggc acctgttaca gagggaaggc caagtgctgc aagtgagctg ggagtgacca
      301 gaagaaatga cgcagaagtg aaatgaactt tttataagca ttcttttaat aaaggaaaat
      361 tgcttttgaa gtata
//
