LOCUS       NM_005217                494 bp    mRNA    linear   PRI 06-SEP-2020
DEFINITION  Homo sapiens defensin alpha 3 (DEFA3), mRNA.
ACCESSION   NM_005217
VERSION     NM_005217.4
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 494)
  AUTHORS   Zhao J, Gu Q, Wang L, Xu W, Chu L, Wang Y, Li Z, Wu S, Xu J, Hu Z,
            Shu Q and Fang X.
  TITLE     Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with
            Susceptibility to Hospital-Acquired Infections in Critically Ill
            Patients
  JOURNAL   Mediators Inflamm. 2018, 2152650 (2018)
   PUBMED   29950924
  REMARK    GeneRIF: lower DEFA1/DEFA3 copy number (CNV < 7) is associated with
            higher susceptibility to hospital-acquired infections (HAIs) in
            critically ill patients, indicating that host genetic factors are
            involved in the development of HAIs
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 494)
  AUTHORS   Maneerat Y, Prasongsukarn K, Benjathummarak S and Dechkhajorn W.
  TITLE     PPBP and DEFA1/DEFA3 genes in hyperlipidaemia as feasible
            synergistic inflammatory biomarkers for coronary heart disease
  JOURNAL   Lipids Health Dis 16 (1), 80 (2017)
   PUBMED   28420383
  REMARK    GeneRIF: DEFA1, DEFA3, and PPBP expression was significantly
            increased in hyperlipidemia and coronary heart disease patients
            compared with controls.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 494)
  AUTHORS   Pillai VG, Bao J, Zander CB, McDaniel JK, Chetty PS, Seeholzer SH,
            Bdeir K, Cines DB and Zheng XL.
  TITLE     Human neutrophil peptides inhibit cleavage of von Willebrand factor
            by ADAMTS13: a potential link of inflammation to TTP
  JOURNAL   Blood 128 (1), 110-119 (2016)
   PUBMED   27207796
  REMARK    GeneRIF: these results demonstrate that HNPs1-3 may be potent
            inhibitors of ADAMTS13 activity, likely by binding to the central
            A2 domain of VWF and physically blocking ADAMTS13 binding.
REFERENCE   4  (bases 1 to 494)
  AUTHORS   Qi YY, Zhou XJ, Cheng FJ and Zhang H.
  TITLE     Elevated Plasma alpha-Defensins (HNP1-3) Levels Correlated with
            IgA1 Glycosylation and Susceptibility to IgA Nephropathy
  JOURNAL   Dis. Markers 2016, 8123138 (2016)
   PUBMED   27563166
  REMARK    GeneRIF: High HNP3 expression is associated with IgA Nephropathy.
REFERENCE   5  (bases 1 to 494)
  AUTHORS   Li YX, Lin CQ, Shi DY, Zeng SY and Li WS.
  TITLE     Upregulated expression of human alpha-defensins 1, 2 and 3 in
            hypercholesteremia and its relationship with serum lipid levels
  JOURNAL   Hum. Immunol. 75 (11), 1104-1109 (2014)
   PUBMED   25300997
  REMARK    GeneRIF: The expression of alpha-defensins 1, 2 and 3 is
            up-regulated in hypercholesteremia.
REFERENCE   6  (bases 1 to 494)
  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   7  (bases 1 to 494)
  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   8  (bases 1 to 494)
  AUTHORS   Selsted ME and Harwig SS.
  TITLE     Determination of the disulfide array in the human defensin HNP-2. A
            covalently cyclized peptide
  JOURNAL   J. Biol. Chem. 264 (7), 4003-4007 (1989)
   PUBMED   2917986
REFERENCE   9  (bases 1 to 494)
  AUTHORS   Wiedemann LM, Francis GE, Lamb RF, Burns JH, Winnie JN, MacKenzie
            ED and Birnie GD.
  TITLE     Differentiation stage-specific expression of a gene during
            granulopoiesis
  JOURNAL   Leukemia 3 (3), 227-234 (1989)
   PUBMED   2918759
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: DEFA3 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, X13621.1 and
            BC027917.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005217.3.
            
            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
            3, 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 1 by only one amino acid. This gene and the
            gene encoding defensin, alpha 1 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 :: HY247075.1, HY113318.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000327857.7/
                                                  ENSP00000328359.2
            Protein has antimicrobial activity :: PMID: 2997278
            RefSeq Select criteria             :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AF238378.5         42179-42181         c
            4-16                X13621.1           5-17
            17-494              BC027917.1         1-478
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="DEFA3"
                     /gene_synonym="DEF3; HNP-3; HNP3; HP-3; HP3"
                     /note="defensin alpha 3"
                     /db_xref="GeneID:1668"
                     /db_xref="HGNC:HGNC:2762"
                     /db_xref="MIM:604522"
     exon            1..76
                     /gene="DEFA3"
                     /gene_synonym="DEF3; HNP-3; HNP3; HP-3; HP3"
                     /inference="alignment:Splign:2.1.0"
     exon            77..263
                     /gene="DEFA3"
                     /gene_synonym="DEF3; HNP-3; HNP3; HP-3; HP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..373
                     /gene="DEFA3"
                     /gene_synonym="DEF3; HNP-3; HNP3; HP-3; HP3"
                     /note="defensin 3, neutrophil-specific; defensin, alpha 3,
                     neutrophil-specific; neutrophil peptide 3; neutrophil
                     defensin 3"
                     /codon_start=1
                     /product="neutrophil defensin 3 preproprotein"
                     /protein_id="NP_005208.1"
                     /db_xref="CCDS:CCDS5962.1"
                     /db_xref="GeneID:1668"
                     /db_xref="HGNC:HGNC:2762"
                     /db_xref="MIM:604522"
                     /translation="MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVV
                     VSLAWDESLAPKHPGSRKNMDCYCRIPACIAGERRYGTCIYQGRLWAFCC"
     exon            264..494
                     /gene="DEFA3"
                     /gene_synonym="DEF3; HNP-3; HNP3; HP-3; HP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      474..479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEFA3"
                     /gene_synonym="DEF3; HNP-3; HNP3; HP-3; HP3"
                     /note="hexamer: AATAAA"
     polyA_site      494
                     /gene="DEFA3"
                     /gene_synonym="DEF3; HNP-3; HNP3; HP-3; HP3"
                     /note="major polyA site"
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 gactgctatt gcagaatacc
      301 agcgtgcatt gcaggagaac gtcgctatgg aacctgcatc taccagggaa gactctgggc
      361 attctgctgc tgagcttgca gaaaaagaaa aatgagctca aaatttgctt tgagagctac
      421 agggaattgc tattactcct gtaccttctg ctcaatttcc tttcctcatc tcaaataaat
      481 gccttgttac aaga
//
