LOCUS       NM_001926                465 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens defensin alpha 6 (DEFA6), mRNA.
ACCESSION   NM_001926
VERSION     NM_001926.4
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 465)
  AUTHORS   Barthold,L., Heber,S., Schmidt,C.Q., Gradl,M., Weidinger,G.,
            Barth,H. and Fischer,S.
  TITLE     Human alpha-Defensin-6 Neutralizes Clostridioides difficile Toxins
            TcdA and TcdB by Direct Binding
  JOURNAL   Int J Mol Sci 23 (9), 4509 (2022)
   PUBMED   35562899
  REMARK    GeneRIF: Human alpha-Defensin-6 Neutralizes Clostridioides
            difficile Toxins TcdA and TcdB by Direct Binding.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 465)
  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 465)
  AUTHORS   Feng,S., Zhong,Z., Fan,J., Li,X., Shi,D. and Jiang,L.
  TITLE     Upregulated Expression of Intestinal Antimicrobial Peptide HD5
            Associated with Renal Function in IgA Nephropathy
  JOURNAL   Dis Markers 2020, 2078279 (2020)
   PUBMED   32089753
  REMARK    GeneRIF: Upregulated Expression of Intestinal Antimicrobial Peptide
            HD5 Associated with Renal Function in IgA Nephropathy.
            Erratum:[Dis Markers. 2022 Aug 17;2022:9797825. doi:
            10.1155/2022/9797825.. PMID: 36033832]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 465)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 465)
  AUTHORS   Jeong,D., Kim,H., Kim,D., Ban,S., Oh,S., Ji,S., Kang,D., Lee,H.,
            Ahn,T.S., Kim,H.J., Bae,S.B., Lee,M.S., Kim,C.J., Kwon,H.Y. and
            Baek,M.J.
  TITLE     Defensin alpha 6 (DEFA6) is a prognostic marker in colorectal
            cancer
  JOURNAL   Cancer Biomark 24 (4), 485-495 (2019)
   PUBMED   30932884
  REMARK    GeneRIF: DEFA6 is associated with overall survival rate of CRC
            patients and thus an independent prognostic marker for CRC. These
            results suggest that DEFA6 plays an essential oncogenic role in CRC
            and serves a good therapeutic target for the disease.
REFERENCE   6  (bases 1 to 465)
  AUTHORS   Chu,H., Pazgier,M., Jung,G., Nuccio,S.P., Castillo,P.A., de
            Jong,M.F., Winter,M.G., Winter,S.E., Wehkamp,J., Shen,B.,
            Salzman,N.H., Underwood,M.A., Tsolis,R.M., Young,G.M., Lu,W.,
            Lehrer,R.I., Baumler,A.J. and Bevins,C.L.
  TITLE     Human alpha-defensin 6 promotes mucosal innate immunity through
            self-assembled peptide nanonets
  JOURNAL   Science 337 (6093), 477-481 (2012)
   PUBMED   22722251
  REMARK    GeneRIF: study reports that HD6 affords protection against invasion
            by enteric bacterial pathogens in vitro and in vivo; after
            stochastic binding to bacterial surface proteins, HD6 undergoes
            ordered self-assembly to form fibrils and nanonets that surround
            and entangle bacteria
REFERENCE   7  (bases 1 to 465)
  AUTHORS   Nam,M.J., Kee,M.K., Kuick,R. and Hanash,S.M.
  TITLE     Identification of defensin alpha6 as a potential biomarker in colon
            adenocarcinoma
  JOURNAL   J Biol Chem 280 (9), 8260-8265 (2005)
   PUBMED   15613481
  REMARK    GeneRIF: defensin alpha6 is highly expressed in colon cancer cell
            lines
REFERENCE   8  (bases 1 to 465)
  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 465)
  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 465)
  AUTHORS   Jones,D.E. and Bevins,C.L.
  TITLE     Defensin-6 mRNA in human Paneth cells: implications for
            antimicrobial peptides in host defense of the human bowel
  JOURNAL   FEBS Lett 315 (2), 187-192 (1993)
   PUBMED   8417977
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC069667.1 and BM855691.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001926.3.
            
            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. Several alpha defensin genes appear to be clustered
            on chromosome 8. The protein encoded by this gene, defensin, alpha
            6, is highly expressed in the secretory granules of Paneth cells of
            the small intestine, and likely plays a role in host defense of
            human bowel. [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 :: HY306549.1, HY151424.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000297436.3/
                                                  ENSP00000297436.2
            Protein has antimicrobial activity :: PMID: 22722251
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-412               BC069667.1         1-412
            413-465             BM855691.1         94-146
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..465
                     /gene="DEFA6"
                     /gene_synonym="DEF6; HD-6"
                     /note="defensin alpha 6"
                     /db_xref="GeneID:1671"
                     /db_xref="HGNC:HGNC:2765"
                     /db_xref="MIM:600471"
     exon            1..234
                     /gene="DEFA6"
                     /gene_synonym="DEF6; HD-6"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..344
                     /gene="DEFA6"
                     /gene_synonym="DEF6; HD-6"
                     /note="defensin-6; defensin, alpha 6, Paneth
                     cell-specific"
                     /codon_start=1
                     /product="defensin-6 preproprotein"
                     /protein_id="NP_001917.1"
                     /db_xref="CCDS:CCDS5960.1"
                     /db_xref="GeneID:1671"
                     /db_xref="HGNC:HGNC:2765"
                     /db_xref="MIM:600471"
                     /translation="MRTLTILTAVLLVALQAKAEPLQAEDDPLQAKAYEADAQEQRGA
                     NDQDFAVSFAEDASSSLRALGSTRAFTCHCRRSCYSTEYSYGTCTVMGINHRFCCL"
     exon            235..465
                     /gene="DEFA6"
                     /gene_synonym="DEF6; HD-6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      447..452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEFA6"
                     /gene_synonym="DEF6; HD-6"
                     /note="hexamer: AATAAA"
     polyA_site      465
                     /gene="DEFA6"
                     /gene_synonym="DEF6; HD-6"
                     /note="major polyA site"
ORIGIN      
        1 acacatctgc tcctgctctc tctcctccag cgaccctagc catgagaacc ctcaccatcc
       61 tcactgctgt tctcctcgtg gccctccagg ccaaggctga gccactccaa gctgaggatg
      121 atccactgca ggcaaaagct tatgaggctg atgcccagga gcagcgtggg gcaaatgacc
      181 aggactttgc cgtctccttt gcagaggatg caagctcaag tcttagagct ttgggctcaa
      241 caagggcttt cacttgccat tgcagaaggt cctgttattc aacagaatat tcctatggga
      301 cctgcactgt catgggtatt aaccacagat tctgctgcct ctgagggatg agaacagaga
      361 gaaatatatt cataatttac tttatgacct agaaggaaac tgtcgtgtgt cctatacatt
      421 gccatcaact ttgtttcctc atctcaaata aagtcctttc agcaa
//
