LOCUS       NM_001081551             329 bp    mRNA    linear   PRI 17-APR-2022
DEFINITION  Homo sapiens defensin beta 103A (DEFB103A), mRNA.
ACCESSION   NM_001081551
VERSION     NM_001081551.4
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 329)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            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 JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 329)
  AUTHORS   Pilkington SM, Dearman RJ, Kimber I and Griffiths CEM.
  TITLE     Langerhans cells express human beta-defensin 3: relevance for
            immunity during skin ageing
  JOURNAL   Br. J. Dermatol. 179 (5), 1170-1171 (2018)
   PUBMED   29758092
  REMARK    GeneRIF: In aged skin the relative paucity of Langerhans cells not
            only results in diminished immunosurveillance, but could also
            reduce the epidermal pool of HBD3, potentially contributing to
            impaired cutaneous immunity to microbes and reduced efficacy of
            tumor cell lysis.
REFERENCE   3  (bases 1 to 329)
  AUTHORS   Wu Y, Li D, Wang Y, Liu X, Zhang Y, Qu W, Chen K, Francisco NM,
            Feng L, Huang X and Wu M.
  TITLE     Beta-Defensin 2 and 3 Promote Bacterial Clearance of Pseudomonas
            aeruginosa by Inhibiting Macrophage Autophagy through
            Downregulation of Early Growth Response Gene-1 and c-FOS
  JOURNAL   Front Immunol 9, 211 (2018)
   PUBMED   29487594
  REMARK    GeneRIF: Results from study in human monocytic cell line THP-1 and
            murine macrophage-like cell line RAW264.7 demonstrate a novel
            immune defense activity of BD2 and BD3, which promotes clearance of
            Pseudomonas aeruginosa by inhibiting macrophage autophagy through
            down-regulation of EGR1 and c-FOS.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 329)
  AUTHORS   McGlasson SL, Semple F, MacPherson H, Gray M, Davidson DJ and Dorin
            JR.
  TITLE     Human beta-defensin 3 increases the TLR9-dependent response to
            bacterial DNA
  JOURNAL   Eur. J. Immunol. 47 (4), 658-664 (2017)
   PUBMED   28102569
  REMARK    GeneRIF: this study shows that hBD3 amplifies the response to
            bacterial DNA in both mouse and human immune cells in a
            TLR9-dependent manner
REFERENCE   5  (bases 1 to 329)
  AUTHORS   Cai G, Xia Q, Fan D, Li X, Ding N, Hu Y, Yang X, Liu L, Xin L, Wang
            L, Xu S, Xu J, Zou Y, Ding C and Pan F.
  TITLE     Association between DEFB103 gene copy number variation and
            ankylosing spondylitis: a case-control study
  JOURNAL   Tissue Antigens 86 (3), 195-198 (2015)
   PUBMED   26224324
  REMARK    GeneRIF: the role of DEFB103 gene copy number variation (CNV) in
            ankylosing spondylitis (AS) susceptibility, was investigated.
REFERENCE   6  (bases 1 to 329)
  AUTHORS   Zanger P, Holzer J, Schleucher R, Scherbaum H, Schittek B and
            Gabrysch S.
  TITLE     Severity of Staphylococcus aureus infection of the skin is
            associated with inducibility of human beta-defensin 3 but not human
            beta-defensin 2
  JOURNAL   Infect. Immun. 78 (7), 3112-3117 (2010)
   PUBMED   20404083
  REMARK    GeneRIF: Inducibility of HBD3 influences the severity of
            Gram-positive skin infection in humans in vivo.
REFERENCE   7  (bases 1 to 329)
  AUTHORS   Maisetta G, Batoni G, Esin S, Florio W, Bottai D, Favilli F and
            Campa M.
  TITLE     In vitro bactericidal activity of human beta-defensin 3 against
            multidrug-resistant nosocomial strains
  JOURNAL   Antimicrob. Agents Chemother. 50 (2), 806-809 (2006)
   PUBMED   16436752
REFERENCE   8  (bases 1 to 329)
  AUTHORS   Schulz A, Kluver E, Schulz-Maronde S and Adermann K.
  TITLE     Engineering disulfide bonds of the novel human beta-defensins
            hBD-27 and hBD-28: differences in disulfide formation and
            biological activity among human beta-defensins
  JOURNAL   Biopolymers 80 (1), 34-49 (2005)
   PUBMED   15625724
REFERENCE   9  (bases 1 to 329)
  AUTHORS   Harder J, Bartels J, Christophers E and Schroder JM.
  TITLE     Isolation and characterization of human beta -defensin-3, a novel
            human inducible peptide antibiotic
  JOURNAL   J. Biol. Chem. 276 (8), 5707-5713 (2001)
   PUBMED   11085990
  REMARK    GeneRIF: The encoded peptide displays antimicrobial activity
            against S. aureus and E. faecium.
REFERENCE   10 (bases 1 to 329)
  AUTHORS   Jia HP, Schutte BC, Schudy A, Linzmeier R, Guthmiller JM, Johnson
            GK, Tack BF, Mitros JP, Rosenthal A, Ganz T and McCray PB Jr.
  TITLE     Discovery of new human beta-defensins using a genomics-based
            approach
  JOURNAL   Gene 263 (1-2), 211-218 (2001)
   PUBMED   11223260
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC130365.5.
            
            On Jul 25, 2019 this sequence version replaced NM_001081551.3.
            
            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 103, an antibiotic peptide which is induced by bacteria and
            interferon gamma, and which displays antimicrobial activity against
            S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans.
            [provided by RefSeq, Oct 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BQ354967.1, DRR138512.632924.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000314357.4/
                                                  ENSP00000320951.3
            Protein has antimicrobial activity :: PMID: 11085990
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-88                AC130365.5         122606-122693       c
            89-329              AC130365.5         121422-121662       c
FEATURES             Location/Qualifiers
     source          1..329
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..329
                     /gene="DEFB103A"
                     /gene_synonym="BD-3; DEFB-3; DEFB103; DEFB3; HBD3; HBP-3;
                     HBP3"
                     /note="defensin beta 103A"
                     /db_xref="GeneID:414325"
                     /db_xref="HGNC:HGNC:15967"
     exon            1..88
                     /gene="DEFB103A"
                     /gene_synonym="BD-3; DEFB-3; DEFB103; DEFB3; HBD3; HBP-3;
                     HBP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..234
                     /gene="DEFB103A"
                     /gene_synonym="BD-3; DEFB-3; DEFB103; DEFB3; HBD3; HBP-3;
                     HBP3"
                     /note="beta-defensin 3; defensin, beta 103; defensin-like
                     protein"
                     /codon_start=1
                     /product="beta-defensin 103 precursor"
                     /protein_id="NP_001075020.1"
                     /db_xref="CCDS:CCDS43701.1"
                     /db_xref="GeneID:414325"
                     /db_xref="HGNC:HGNC:15967"
                     /translation="MRIHYLLFALLFLFLVPVPGHGGIINTLQKYYCRVRGGRCAVLS
                     CLPKEEQIGKCSTRGRKCCRRKK"
     exon            89..329
                     /gene="DEFB103A"
                     /gene_synonym="BD-3; DEFB-3; DEFB103; DEFB3; HBD3; HBP-3;
                     HBP3"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtctcagcg tggggtgaag cctagcagct atgaggatcc attatcttct gtttgctttg
       61 ctcttcctgt ttttggtgcc tgttccaggt catggaggaa tcataaacac attacagaaa
      121 tattattgca gagtcagagg cggccggtgt gctgtgctca gctgccttcc aaaggaggaa
      181 cagatcggca agtgctcgac gcgtggccga aaatgctgcc gaagaaagaa ataaaaaccc
      241 tgaaacatga cgagagtgtt gtaaagtgtg gaaatgcctt cttaaagttt ataaaagtaa
      301 aatcaaatta catttttttt tcaaaaaaa
//
