LOCUS       NM_001925                587 bp    mRNA    linear   PRI 29-MAY-2022
DEFINITION  Homo sapiens defensin alpha 4 (DEFA4), mRNA.
ACCESSION   NM_001925
VERSION     NM_001925.3
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 587)
  AUTHORS   Hu H, Di B, Tolbert WD, Gohain N, Yuan W, Gao P, Ma B, He Q,
            Pazgier M, Zhao L and Lu W.
  TITLE     Systematic mutational analysis of human neutrophil alpha-defensin
            HNP4
  JOURNAL   Biochim Biophys Acta Biomembr 1861 (4), 835-844 (2019)
   PUBMED   30658057
  REMARK    GeneRIF: findings unveil the molecular determinants of HNP4
            function, completing the atlas of structure and function
            relationships for all human neutrophil alpha-defensins.
REFERENCE   2  (bases 1 to 587)
  AUTHORS   Jourdain ML, Pierrard L, Kanagaratnam L, Velard F, Sergheraert J,
            Lefevre B, Gangloff SC and Braux J.
  TITLE     Antimicrobial peptide gene expression in periodontitis patients: A
            pilot study
  JOURNAL   J Clin Periodontol 45 (5), 524-537 (2018)
   PUBMED   29446150
  REMARK    GeneRIF: Three AMP genes, histatin 3 (HTN3), alpha-defensin 4
            (DEFA4) and lysozyme C (LYZ), presented different expression levels
            in periodontitis patients compared with healthy subjects. The
            relative expression level of DEFA4 appeared to be a protective
            factor against periodontitis.
REFERENCE   3  (bases 1 to 587)
  AUTHORS   Winter J, Pantelis A, Kraus D, Reckenbeil J, Reich R, Jepsen S,
            Fischer HP, Allam JP, Novak N and Wenghoefer M.
  TITLE     Human alpha-defensin (DEFA) gene expression helps to characterise
            benign and malignant salivary gland tumours
  JOURNAL   BMC Cancer 12, 465 (2012)
   PUBMED   23050799
  REMARK    GeneRIF: Results indicate that the gene expression of DEFA 1/3 and
            4 was significantly increased in all tumours - except for a
            significant decrease of DEFA 4 gene expression in pleomorphic
            adenomas.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 587)
  AUTHORS   Etienne G, Dupouy M, Costaglioli P, Chollet C, Lagarde V, Pasquet
            JM, Reiffers J, Garbay B, Mahon FX and Turcq B.
  TITLE     alpha-defensin 1-3 and alpha-defensin 4 as predictive markers of
            imatinib resistance and relapse in CML patients
  JOURNAL   Dis Markers 30 (5), 221-227 (2011)
   PUBMED   21734341
  REMARK    GeneRIF: DEFA1-3 and DEFA4 mRNA level in peripheral blood cells can
            be used to identify chronic myeloid leukaemia patients who are at
            risk of being imatinib-resistant, before initiation of the therapy.
REFERENCE   5  (bases 1 to 587)
  AUTHORS   Wenghoefer M, Pantelis A, Najafi T, Deschner J, Allam JP, Novak N,
            Reich R, Martini M, Berge S, Fischer HP, Jepsen S and Winter J.
  TITLE     Gene expression of oncogenes, antimicrobial peptides, and cytokines
            in the development of oral leukoplakia
  JOURNAL   Oral Surg Oral Med Oral Pathol Oral Radiol Endod 110 (3), 351-356
            (2010)
   PUBMED   20727496
  REMARK    GeneRIF: The combination of an increased expression of the
            antimicrobial peptide DEFA-4, the oncogene S100-A7, epidermal
            growth factor, and tenascin-c, and a decreased Doc-1 expression in
            oral leukoplakia might characterize its potency of malignant
            transformation.
REFERENCE   6  (bases 1 to 587)
  AUTHORS   Ericksen B, Wu Z, Lu W and Lehrer RI.
  TITLE     Antibacterial activity and specificity of the six human
            {alpha}-defensins
  JOURNAL   Antimicrob Agents Chemother 49 (1), 269-275 (2005)
   PUBMED   15616305
REFERENCE   7  (bases 1 to 587)
  AUTHORS   Palfree RG, Sadro LC and Solomon S.
  TITLE     The gene encoding the human corticostatin HP-4 precursor contains a
            recent 86-base duplication and is located on chromosome 8
  JOURNAL   Mol Endocrinol 7 (2), 199-205 (1993)
   PUBMED   8469233
REFERENCE   8  (bases 1 to 587)
  AUTHORS   Wilde CG, Griffith JE, Marra MN, Snable JL and Scott RW.
  TITLE     Purification and characterization of human neutrophil peptide 4, a
            novel member of the defensin family
  JOURNAL   J Biol Chem 264 (19), 11200-11203 (1989)
   PUBMED   2500436
  REMARK    GeneRIF: DEFA4 displays antimicrobial activity against E. coli, S.
            faecalis, and C. albicans.
REFERENCE   9  (bases 1 to 587)
  AUTHORS   Gabay JE, Scott RW, Campanelli D, Griffith J, Wilde C, Marra MN,
            Seeger M and Nathan CF.
  TITLE     Antibiotic proteins of human polymorphonuclear leukocytes
  JOURNAL   Proc Natl Acad Sci U S A 86 (14), 5610-5614 (1989)
   PUBMED   2501794
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1989 Dec;86(24):10133]
REFERENCE   10 (bases 1 to 587)
  AUTHORS   Singh A, Bateman A, Zhu QZ, Shimasaki S, Esch F and Solomon S.
  TITLE     Structure of a novel human granulocyte peptide with anti-ACTH
            activity
  JOURNAL   Biochem Biophys Res Commun 155 (1), 524-529 (1988)
   PUBMED   2843187
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU616655.1, X65977.1 and
            DN998607.1.
            
            On May 17, 2019 this sequence version replaced NM_001925.2.
            
            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. Several alpha defensin genes are clustered on
            chromosome 8. This gene differs from other genes of this family by
            an extra 83-base segment that is apparently the result of a recent
            duplication within the coding region. The protein encoded by this
            gene, defensin, alpha 4, is found in the neutrophils; it exhibits
            corticostatic activity and inhibits corticotropin stimulated
            corticosterone production. [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 :: HY078510.1, DN998607.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000297435.3/
                                                  ENSP00000297435.2
            Protein has antimicrobial activity :: PMID: 2500436
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                BU616655.1         561-602             c
            43-584              X65977.1           1-542
            585-587             DN998607.1         566-568
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..587
                     /gene="DEFA4"
                     /gene_synonym="DEF4; HNP-4; HP-4; HP4"
                     /note="defensin alpha 4"
                     /db_xref="GeneID:1669"
                     /db_xref="HGNC:HGNC:2763"
                     /db_xref="MIM:601157"
     exon            1..81
                     /gene="DEFA4"
                     /gene_synonym="DEF4; HNP-4; HP-4; HP4"
                     /inference="alignment:Splign:2.1.0"
     exon            82..265
                     /gene="DEFA4"
                     /gene_synonym="DEF4; HNP-4; HP-4; HP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..387
                     /gene="DEFA4"
                     /gene_synonym="DEF4; HNP-4; HP-4; HP4"
                     /note="corticostatin; neutrophil defensin 4; defensin,
                     alpha 4, preproprotein; defensin, alpha 4, corticostatin;
                     corticostatin HP-4"
                     /codon_start=1
                     /product="defensin alpha 4 preproprotein"
                     /protein_id="NP_001916.1"
                     /db_xref="CCDS:CCDS5961.1"
                     /db_xref="GeneID:1669"
                     /db_xref="HGNC:HGNC:2763"
                     /db_xref="MIM:601157"
                     /translation="MRIIALLAAILLVALQVRAGPLQARGDEAPGQEQRGPEDQDISI
                     SFAWDKSSALQVSGSTRGMVCSCRLVFCRRTELRVGNCLIGGVSFTYCCTRVD"
     exon            266..587
                     /gene="DEFA4"
                     /gene_synonym="DEF4; HNP-4; HP-4; HP4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atggctgctc ttgctacata agacctggaa cacaggactg ctgtctgccc tctctgctcg
       61 ccctgcctag cttgaggatc tgtcacccca gccatgagga ttatcgccct cctcgctgct
      121 attctcttgg tagccctcca ggtccgggca ggcccactcc aggcaagagg tgatgaggct
      181 ccaggccagg agcagcgtgg gccagaagac caggacatat ctatttcctt tgcatgggat
      241 aaaagctctg ctcttcaggt ttcaggctca acaaggggca tggtctgctc ttgcagatta
      301 gtattctgcc ggcgaacaga acttcgtgtt gggaactgcc tcattggtgg tgtgagtttc
      361 acatactgct gcacgcgtgt cgattaacgt tctgctgtcc aagagaatgt catgctggga
      421 acgccatcat cggtggtgtt agcttcacat gcttctgcag ctgagcttgc agaatagaga
      481 aaaatgagct cataatttgc tttgagagct acaggaaatg gttgtttctc ctatactttg
      541 tccttaacat ctttcttgat cctaaatata tatctcgtaa caagatg
//
