LOCUS       NM_021010                454 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens defensin alpha 5 (DEFA5), mRNA.
ACCESSION   NM_021010
VERSION     NM_021010.3
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 454)
  AUTHORS   Panjeta,A., Kaur,K., Sharma,R., Verma,I. and Preet,S.
  TITLE     Human Intestinal Defensin 5 Ameliorates the Sensitization of
            Colonic Cancer Cells to 5-Fluorouracil
  JOURNAL   Arch Med Res 55 (2), 102966 (2024)
   PUBMED   38330831
  REMARK    GeneRIF: Human Intestinal Defensin 5 Ameliorates the Sensitization
            of Colonic Cancer Cells to 5-Fluorouracil.
REFERENCE   2  (bases 1 to 454)
  AUTHORS   Yasuda,G., Kubota,A., Okamoto,K., Narumi,K., Furugen,A., Kato,I.,
            Mori,A., Saito,Y., Satoh,T., Takahashi-Suzuki,N., Iseki,K. and
            Kobayashi,M.
  TITLE     Association between alpha-defensin 5 and the expression and
            function of P-glycoprotein in differentiated intestinal Caco-2
            cells
  JOURNAL   Biopharm Drug Dispos 44 (5), 358-364 (2023)
   PUBMED   37277970
  REMARK    GeneRIF: Association between alpha-defensin 5 and the expression
            and function of P-glycoprotein in differentiated intestinal Caco-2
            cells.
REFERENCE   3  (bases 1 to 454)
  AUTHORS   Chang,X.Y., Zhang,M.W., Zhang,L.J. and Chai,L.Q.
  TITLE     The Function and Modification of Human Defensin 5
  JOURNAL   Protein Pept Lett 30 (10), 830-840 (2023)
   PUBMED   37861034
  REMARK    GeneRIF: The Function and Modification of Human Defensin 5.
            Review article
REFERENCE   4  (bases 1 to 454)
  AUTHORS   Nagao,S., Takahashi,Y., Denda,T., Tanaka,Y., Miura,Y., Mizutani,H.,
            Ohki,D., Sakaguchi,Y., Yakabi,S., Tsuji,Y., Niimi,K., Kakushima,N.,
            Yamamichi,N., Ota,Y., Koike,K. and Fujishiro,M.
  TITLE     Reduced DEFA5 Expression and STAT3 Activation Underlie the
            Submucosal Invasion of Early Gastric Cancers
  JOURNAL   Digestion 104 (6), 480-493 (2023)
   PUBMED   37598668
  REMARK    GeneRIF: Reduced DEFA5 Expression and STAT3 Activation Underlie the
            Submucosal Invasion of Early Gastric Cancers.
REFERENCE   5  (bases 1 to 454)
  AUTHORS   Peng,H., Fan,P., Hong,Y., He,J., Zeng,X., Xu,F., Zhao,Y. and Jin,T.
  TITLE     3' untranslated region variants in DEFA5 gene associated with
            susceptibility to IgA nephropathy in the Chinese Han population
  JOURNAL   Biomark Med 16 (16), 1151-1159 (2022)
   PUBMED   36632813
  REMARK    GeneRIF: 3' untranslated region variants in DEFA5 gene associated
            with susceptibility to IgA nephropathy in the Chinese Han
            population.
REFERENCE   6  (bases 1 to 454)
  AUTHORS   Ericksen,B., Wu,Z., Lu,W. and Lehrer,R.I.
  TITLE     Antibacterial activity and specificity of the six human
            {alpha}-defensins
  JOURNAL   Antimicrob Agents Chemother 49 (1), 269-275 (2005)
   PUBMED   15616305
  REMARK    GeneRIF: DEFA5 displays antimicrobial activity against E. coli, E.
            aerogenes, B. cereus, and S. aureus.
REFERENCE   7  (bases 1 to 454)
  AUTHORS   Porter,E.M., Liu,L., Oren,A., Anton,P.A. and Ganz,T.
  TITLE     Localization of human intestinal defensin 5 in Paneth cell granules
  JOURNAL   Infect Immun 65 (6), 2389-2395 (1997)
   PUBMED   9169779
REFERENCE   8  (bases 1 to 454)
  AUTHORS   Mallow,E.B., Harris,A., Salzman,N., Russell,J.P.,
            DeBerardinis,R.J., Ruchelli,E. and Bevins,C.L.
  TITLE     Human enteric defensins. Gene structure and developmental
            expression
  JOURNAL   J Biol Chem 271 (8), 4038-4045 (1996)
   PUBMED   8626737
REFERENCE   9  (bases 1 to 454)
  AUTHORS   Bevins,C.L., Jones,D.E., Dutra,A., Schaffzin,J. and Muenke,M.
  TITLE     Human enteric defensin genes: chromosomal map position and a model
            for possible evolutionary relationships
  JOURNAL   Genomics 31 (1), 95-106 (1996)
   PUBMED   8808285
REFERENCE   10 (bases 1 to 454)
  AUTHORS   Jones,D.E. and Bevins,C.L.
  TITLE     Paneth cells of the human small intestine express an antimicrobial
            peptide gene
  JOURNAL   J Biol Chem 267 (32), 23216-23225 (1992)
   PUBMED   1429669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM854660.1 and BP419449.1.
            
            On Nov 22, 2018 this sequence version replaced NM_021010.2.
            
            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 of the alpha defensin genes appear to be
            clustered on chromosome 8. The protein encoded by this gene,
            defensin, alpha 5, is highly expressed in the secretory granules of
            Paneth cells of the ileum. [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 :: BM854660.1, BP424870.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000330590.4/
                                                  ENSP00000329890.2
            Protein has antimicrobial activity :: PMID: 15616305
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                BM854660.1         1-56
            57-454              BP419449.1         2-399
FEATURES             Location/Qualifiers
     source          1..454
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..454
                     /gene="DEFA5"
                     /gene_synonym="DEF5; HD-5"
                     /note="defensin alpha 5"
                     /db_xref="GeneID:1670"
                     /db_xref="HGNC:HGNC:2764"
                     /db_xref="MIM:600472"
     exon            1..214
                     /gene="DEFA5"
                     /gene_synonym="DEF5; HD-5"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..327
                     /gene="DEFA5"
                     /gene_synonym="DEF5; HD-5"
                     /note="defensin-5; defensin, alpha 5, preproprotein;
                     HD5(20-94); defensin, alpha 5, Paneth cell-specific"
                     /codon_start=1
                     /product="defensin alpha 5 preproprotein"
                     /protein_id="NP_066290.1"
                     /db_xref="CCDS:CCDS5963.1"
                     /db_xref="GeneID:1670"
                     /db_xref="HGNC:HGNC:2764"
                     /db_xref="MIM:600472"
                     /translation="MRTIAILAAILLVALQAQAESLQERADEATTQKQSGEDNQDLAI
                     SFAGNGLSALRTSGSQARATCYCRTGRCATRESLSGVCEISGRLYRLCCR"
     exon            215..454
                     /gene="DEFA5"
                     /gene_synonym="DEF5; HD-5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      435..440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEFA5"
                     /gene_synonym="DEF5; HD-5"
                     /note="hexamer: AATAAA"
     polyA_site      454
                     /gene="DEFA5"
                     /gene_synonym="DEF5; HD-5"
                     /note="major polyA site"
ORIGIN      
        1 acatatccac tcctgctctc cctcctgcag gtgaccccag ccatgaggac catcgccatc
       61 cttgctgcca ttctcctggt ggccctgcag gcccaggctg agtcactcca ggaaagagct
      121 gatgaggcta caacccagaa gcagtctggg gaagacaacc aggaccttgc tatctccttt
      181 gcaggaaatg gactctctgc tcttagaacc tcaggttctc aggcaagagc cacctgctat
      241 tgccgaaccg gccgttgtgc tacccgtgag tccctctccg gggtgtgtga aatcagtggc
      301 cgcctctaca gactctgctg tcgctgagct tcctagatag aaaccaaagc agtgcaagat
      361 tcagttcaag gtcctgaaaa aagaaaaaca ttttactctg tgtaccttgt gtctttctaa
      421 atttctctct ccaaaataaa gttcaagcat taaa
//
