LOCUS       NM_004084                498 bp    mRNA    linear   PRI 03-APR-2023
DEFINITION  Homo sapiens defensin alpha 1 (DEFA1), mRNA.
ACCESSION   NM_004084
VERSION     NM_004084.4
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 498)
  AUTHORS   Basta MN, White-Dzuro CG, Rao V, Liu PY, Kwan D, Breuing KH,
            Sullivan R, Mermel LA, Drolet BC and Schmidt S.
  TITLE     Alpha Defensin-1 Biomarker Outperforms Culture in Diagnosing Breast
            Implant-Related Infection: Results from a Multicenter Prospective
            Study
  JOURNAL   Plast Reconstr Surg 151 (4), 706-714 (2023)
   PUBMED   36729968
  REMARK    GeneRIF: Alpha Defensin-1 Biomarker Outperforms Culture in
            Diagnosing Breast Implant-Related Infection: Results from a
            Multicenter Prospective Study.
REFERENCE   2  (bases 1 to 498)
  AUTHORS   Kudryashova E, Zani A, Vilmen G, Sharma A, Lu W, Yount JS and
            Kudryashov DS.
  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
  REMARK    GeneRIF: Inhibition of SARS-CoV-2 Infection by Human Defensin HNP1
            and Retrocyclin RC-101.
REFERENCE   3  (bases 1 to 498)
  AUTHORS   Shrivastava S, Chelluboina S, Jedge P, Doke P, Palkar S, Mishra AC
            and Arankalle VA.
  TITLE     Elevated Levels of Neutrophil Activated Proteins, Alpha-Defensins
            (DEFA1), Calprotectin (S100A8/A9) and Myeloperoxidase (MPO) Are
            Associated With Disease Severity in COVID-19 Patients
  JOURNAL   Front Cell Infect Microbiol 11, 751232 (2021)
   PUBMED   34746027
  REMARK    GeneRIF: Elevated Levels of Neutrophil Activated Proteins,
            Alpha-Defensins (DEFA1), Calprotectin (S100A8/A9) and
            Myeloperoxidase (MPO) Are Associated With Disease Severity in
            COVID-19 Patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 498)
  AUTHORS   Li Z, Zhang Q, Shi L, Gao F, Sun W and Li Z.
  TITLE     Alpha-Defensin versus Leukocyte Esterase in Periprosthetic Joint
            Infection: An Updated Meta-Analysis
  JOURNAL   Biomed Res Int 2020, 3704285 (2020)
   PUBMED   33294439
  REMARK    GeneRIF: Alpha-Defensin versus Leukocyte Esterase in Periprosthetic
            Joint Infection: An Updated Meta-Analysis.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 498)
  AUTHORS   Higazi M, Abdeen S, Abu-Fanne R, Heyman SN, Masarwy A, Bdeir K,
            Maraga E, Cines DB and Higazi AA.
  TITLE     Opposing effects of HNP1 (alpha-defensin-1) on plasma cholesterol
            and atherogenesis
  JOURNAL   PLoS One 15 (4), e0231582 (2020)
   PUBMED   32302327
  REMARK    GeneRIF: Study in ApoE-/- transgenic mice expressing alpha-def-1
            revealed that alpha-def-1 lowers total plasma cholesterol and
            decreases lesion size. However, lesion size was larger than in mice
            with total plasma cholesterol lowered to the same extent by
            inhibiting its adsorption or by ingesting a low-fat diet.
            alpha-def-1 levels correlated independently with lesion size in
            ApoE-/- mice. alpha-def-1 has competing effects on ath...
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 498)
  AUTHORS   Pardi A, Zhang XL, Selsted ME, Skalicky JJ and Yip PF.
  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 498)
  AUTHORS   Zhang XL, Selsted ME 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 498)
  AUTHORS   Valore EV 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 498)
  AUTHORS   Hill CP, Yee J, Selsted ME and Eisenberg D.
  TITLE     Crystal structure of defensin HNP-3, an amphiphilic dimer:
            mechanisms of membrane permeabilization
  JOURNAL   Science 251 (5000), 1481-1485 (1991)
   PUBMED   2006422
REFERENCE   10 (bases 1 to 498)
  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: DEFA1 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 AL036554.2, M26602.1 and
            AW291977.1.
            
            On Aug 13, 2020 this sequence version replaced NM_004084.3.
            
            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. [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 :: BU616031.1, CA427527.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000382692.3/
                                                  ENSP00000372139.2
            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
            1-12                AL036554.2         4-15
            13-486              M26602.1           14-487
            487-498             AW291977.1         17-28               c
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..498
                     /gene="DEFA1"
                     /gene_synonym="DEF1; DEFA2; HNP-1; HP-1; HP1; MRS"
                     /note="defensin alpha 1"
                     /db_xref="GeneID:1667"
                     /db_xref="HGNC:HGNC:2761"
                     /db_xref="MIM:125220"
     exon            1..80
                     /gene="DEFA1"
                     /gene_synonym="DEF1; DEFA2; HNP-1; HP-1; HP1; MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            81..267
                     /gene="DEFA1"
                     /gene_synonym="DEF1; DEFA2; HNP-1; HP-1; HP1; MRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..377
                     /gene="DEFA1"
                     /gene_synonym="DEF1; DEFA2; HNP-1; HP-1; HP1; MRS"
                     /note="myeloid-related sequence; defensin, alpha 2;
                     defensin, alpha 1, myeloid-related sequence; neutrophil
                     defensin 1"
                     /codon_start=1
                     /product="neutrophil defensin 1 preproprotein"
                     /protein_id="NP_004075.1"
                     /db_xref="CCDS:CCDS34797.1"
                     /db_xref="GeneID:1667"
                     /db_xref="HGNC:HGNC:2761"
                     /db_xref="MIM:125220"
                     /translation="MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVV
                     VSLAWDESLAPKHPGSRKNMACYCRIPACIAGERRYGTCIYQGRLWAFCC"
     exon            268..498
                     /gene="DEFA1"
                     /gene_synonym="DEF1; DEFA2; HNP-1; HP-1; HP1; MRS"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggctgctcct tgctatagaa gacctgggac agaggactgc tgtctgccct ctctggtcac
       61 cctgcctagc tagaggatct gtgaccccag ccatgaggac cctcgccatc cttgctgcca
      121 ttctcctggt ggccctgcag gcccaggctg agccactcca ggcaagagct gatgaggttg
      181 ctgcagcccc ggagcagatt gcagcggaca tcccagaagt ggttgtttcc cttgcatggg
      241 acgaaagctt ggctccaaag catccaggct caaggaaaaa catggcctgc tattgcagaa
      301 taccagcgtg cattgcagga gaacgtcgct atggaacctg catctaccag ggaagactct
      361 gggcattctg ctgctgagct tgcagaaaaa gaaaaatgag ctcaaaattt gctttgagag
      421 ctacagggaa ttgctattac tcctgtacct tctgctcaat ttcctttcct catcccaaat
      481 aaatgccttg ttacaaga
//
