LOCUS       NM_001042500             494 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens defensin alpha 1B (DEFA1B), transcript variant 2,
            mRNA.
ACCESSION   NM_001042500 XM_001127929
VERSION     NM_001042500.2
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 494)
  AUTHORS   Kudryashova,E., Zani,A., Vilmen,G., Sharma,A., Lu,W., Yount,J.S.
            and Kudryashov,D.S.
  TITLE     Inhibition of SARS-CoV-2 Infection by Human Defensin HNP1 and
            Retrocyclin RC-101
  JOURNAL   J Mol Biol 434 (6), 167225 (2022)
   PUBMED   34487793
REFERENCE   2  (bases 1 to 494)
  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 494)
  AUTHORS   Ugurel,E., Erdag,E., Kucukali,C.I., Olcay,A., Sanli,E., Akbayir,E.,
            Kurtuncu,M., Gunduz,T., Yilmaz,V., Tuzun,E. and Vural,B.
  TITLE     Enhanced NLRP3 and DEFA1B Expression During the Active Stage of
            Parenchymal Neuro-Behcet's Disease
  JOURNAL   In Vivo 33 (5), 1493-1497 (2019)
   PUBMED   31471397
  REMARK    GeneRIF: our findings suggest that DEFA1B and NLRP3 gene expression
            levels can be used as valuable biologic markers for estimation of
            disease activity in NBD and as potential targets for future
            therapeutic trials for inflammatory disorders.
REFERENCE   4  (bases 1 to 494)
  AUTHORS   Zou,G. and de Leeuw,E.
  TITLE     Neutralization of Pseudomonas auruginosa Exotoxin A by human
            neutrophil peptide 1
  JOURNAL   Biochem Biophys Res Commun 501 (2), 454-457 (2018)
   PUBMED   29738776
  REMARK    GeneRIF: Human Neutrophil Peptide 1 directly binds and neutralizes
            Exotoxin A of Pseudomonas aeruginosa.
REFERENCE   5  (bases 1 to 494)
  AUTHORS   Pausch,T., Adolph,S., Felix,K., Bauer,A.S., Bergmann,F., Werner,J.
            and Hartwig,W.
  TITLE     Antimicrobial Peptide Human Neutrophil Peptide 1 as a Potential
            Link Between Chronic Inflammation and Ductal Adenocarcinoma of the
            Pancreas
  JOURNAL   Pancreas 47 (5), 561-567 (2018)
   PUBMED   29683978
  REMARK    GeneRIF: Inflammatory regulation of defensin alpha 1 (human
            neutrophil peptide 1; HNP-1) in pancreatic ductal adenocarcinoma
            (PDAC) tissue and cells indicates that HNP-1 may be a link between
            chronic inflammation and malignant transformation in the pancreas.
REFERENCE   6  (bases 1 to 494)
  AUTHORS   Pardi,A., Zhang,X.L., Selsted,M.E., Skalicky,J.J. and Yip,P.F.
  TITLE     NMR studies of defensin antimicrobial peptides. 2.
            Three-dimensional structures of rabbit NP-2 and human HNP-1
  JOURNAL   Biochemistry 31 (46), 11357-11364 (1992)
   PUBMED   1445873
REFERENCE   7  (bases 1 to 494)
  AUTHORS   Zhang,X.L., Selsted,M.E. and Pardi,A.
  TITLE     NMR studies of defensin antimicrobial peptides. 1. Resonance
            assignment and secondary structure determination of rabbit NP-2 and
            human HNP-1
  JOURNAL   Biochemistry 31 (46), 11348-11356 (1992)
   PUBMED   1445872
REFERENCE   8  (bases 1 to 494)
  AUTHORS   Valore,E.V. and Ganz,T.
  TITLE     Posttranslational processing of defensins in immature human myeloid
            cells
  JOURNAL   Blood 79 (6), 1538-1544 (1992)
   PUBMED   1339298
REFERENCE   9  (bases 1 to 494)
  AUTHORS   Bateman,A., Singh,A., Shustik,C., Mars,W.M. and Solomon,S.
  TITLE     The isolation and identification of multiple forms of the
            neutrophil granule peptides from human leukemic cells
  JOURNAL   J Biol Chem 266 (12), 7524-7530 (1991)
   PUBMED   2019582
REFERENCE   10 (bases 1 to 494)
  AUTHORS   Ganz,T., Selsted,M.E., Szklarek,D., Harwig,S.S., Daher,K.,
            Bainton,D.F. and Lehrer,R.I.
  TITLE     Defensins. Natural peptide antibiotics of human neutrophils
  JOURNAL   J Clin Invest 76 (4), 1427-1435 (1985)
   PUBMED   2997278
  REMARK    GeneRIF: DEFA1B encodes an antibacterial peptide that is
            bacteriocidal against S. aureus, E. coli, and P. aeruginosa.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF238378.5.
            
            On Nov 20, 2020 this sequence version replaced NM_001042500.1.
            
            Summary: Defensins are a family of antimicrobial and cytotoxic
            peptides thought to be involved in host defense. They are abundant
            in the granules of neutrophils and also found in the epithelia of
            mucosal surfaces such as those of the intestine, respiratory tract,
            urinary tract, and vagina. Members of the defensin family are
            highly similar in protein sequence and distinguished by a conserved
            cysteine motif. The protein encoded by this gene, defensin, alpha
            1, is found in the microbicidal granules of neutrophils and likely
            plays a role in phagocyte-mediated host defense. Several alpha
            defensin genes are clustered on chromosome 8. This gene differs
            from defensin, alpha 3 by only one amino acid. This gene and the
            gene encoding defensin, alpha 3 are both subject to copy number
            variation. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Oct 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 :: BQ188934.1, BU616082.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162823 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000382689.8/
                                                  ENSP00000372136.3
            Protein has antimicrobial activity :: PMID: 2997278
            RefSeq Select criteria             :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-76                AF238378.5         23007-23082         c
            77-263              AF238378.5         21461-21647         c
            264-494             AF238378.5         20650-20880         c
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..494
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /note="defensin alpha 1B"
                     /db_xref="GeneID:728358"
                     /db_xref="HGNC:HGNC:33596"
     exon            1..76
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /inference="alignment:Splign:2.1.0"
     exon            77..263
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..373
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; neutrophil defensin 1"
                     /codon_start=1
                     /product="neutrophil defensin 1 isoform 2 preproprotein"
                     /protein_id="NP_001035965.1"
                     /db_xref="CCDS:CCDS43691.1"
                     /db_xref="GeneID:728358"
                     /db_xref="HGNC:HGNC:33596"
                     /translation="MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVV
                     VSLAWDESLAPKHPGSRKNMACYCRIPACIAGERRYGTCIYQGRLWAFCC"
     exon            264..494
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gctccttgct atagaagacc tgggacagag gactgctgtc tgccctctct ggtcaccctg
       61 cctagctaga ggatctgtga ccccagccat gaggaccctc gccatccttg ctgccattct
      121 cctggtggcc ctgcaggccc aggctgagcc actccaggca agagctgatg aggttgctgc
      181 agccccggag cagattgcag cggacatccc agaagtggtt gtttcccttg catgggacga
      241 aagcttggct ccaaagcatc caggctcaag gaaaaacatg gcctgctatt gcagaatacc
      301 agcgtgcatt gcaggagaac gtcgctatgg aacctgcatc taccagggaa gactctgggc
      361 attctgctgc tgagcttgca gaaaaagaaa aatgagctca aaatttgctt tgagagctac
      421 agggaattgc tattactcct gtaccttctg ctcaatttcc tttcctcatc ccaaataaat
      481 gccttgttac aaga
//
