LOCUS       NM_152250               1283 bp    mRNA    linear   PRI 17-APR-2022
DEFINITION  Homo sapiens defensin beta 105A (DEFB105A), mRNA.
ACCESSION   NM_152250 XM_928775
VERSION     NM_152250.3
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 1283)
  AUTHORS   Wanniarachchi YA, Kaczmarek P, Wan A and Nolan EM.
  TITLE     Human defensin 5 disulfide array mutants: disulfide bond deletion
            attenuates antibacterial activity against Staphylococcus aureus
  JOURNAL   Biochemistry 50 (37), 8005-8017 (2011)
   PUBMED   21861459
  REMARK    GeneRIF: The native disulfide array of human defensin 5 is a
            requirement for its activity against Staphylococcus aureus.
            GeneRIF: Defensin-beta 105 displays antimicrobial activity against
            S. aureus and E. coli, among other bacteria.
REFERENCE   2  (bases 1 to 1283)
  AUTHORS   Milanese M, Segat L, Arraes LC, Garzino-Demo A and Crovella S.
  TITLE     Copy number variation of defensin genes and HIV infection in
            Brazilian children
  JOURNAL   J Acquir Immune Defic Syndr 50 (3), 331-333 (2009)
   PUBMED   19194307
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1283)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
REFERENCE   4  (bases 1 to 1283)
  AUTHORS   Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M,
            Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF,
            Shimizu N, Siddiqui R and Platzer M.
  TITLE     Polymorphic segmental duplications at 8p23.1 challenge the
            determination of individual defensin gene repertoires and the
            assembly of a contiguous human reference sequence
  JOURNAL   BMC Genomics 5 (1), 92 (2004)
   PUBMED   15588320
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1283)
  AUTHORS   Boniotto M, Ventura M, Eskdale J, Crovella S and Gallagher G.
  TITLE     Evidence for duplication of the human defensin gene DEFB4 in
            chromosomal region 8p22-23 and implications for the analysis of SNP
            allele distribution
  JOURNAL   Genet Test 8 (3), 325-327 (2004)
   PUBMED   15727258
REFERENCE   6  (bases 1 to 1283)
  AUTHORS   Hollox EJ, Armour JA and Barber JC.
  TITLE     Extensive normal copy number variation of a beta-defensin
            antimicrobial-gene cluster
  JOURNAL   Am J Hum Genet 73 (3), 591-600 (2003)
   PUBMED   12916016
REFERENCE   7  (bases 1 to 1283)
  AUTHORS   Semple CA, Rolfe M and Dorin JR.
  TITLE     Duplication and selection in the evolution of primate beta-defensin
            genes
  JOURNAL   Genome Biol 4 (5), R31 (2003)
   PUBMED   12734011
REFERENCE   8  (bases 1 to 1283)
  AUTHORS   Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T,
            Kurihara H and Ouchi Y.
  TITLE     Identification of multiple novel epididymis-specific beta-defensin
            isoforms in humans and mice
  JOURNAL   J Immunol 169 (5), 2516-2523 (2002)
   PUBMED   12193721
  REMARK    GeneRIF: The epididymis-specific expression pattern of the
            beta-defensin isoform BD-5 has been characterized.
REFERENCE   9  (bases 1 to 1283)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084121.13 and AB089180.1.
            
            On Nov 20, 2020 this sequence version replaced NM_152250.2.
            
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. Chromosome 8p23 contains at least two copies
            of the duplicated beta-defensin cluster. This duplication results
            in two identical copies of defensin, beta 105, DEFB105A and
            DEFB105B, in tail-to-tail orientation. This gene, DEFB105A,
            represents the more centromeric copy. [provided by RefSeq, Oct
            2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.132437.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2162841
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000334773.7/
                                                  ENSP00000334330.6
            Protein has antimicrobial activity :: PMID: 21861459
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AC084121.13        14266-14307
            43-279              AB089180.1         1-237
            280-1283            AC084121.13        16139-17142
FEATURES             Location/Qualifiers
     source          1..1283
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..1283
                     /gene="DEFB105A"
                     /gene_synonym="BD-5; DEFB-5; DEFB105"
                     /note="defensin beta 105A"
                     /db_xref="GeneID:245908"
                     /db_xref="HGNC:HGNC:18087"
     exon            1..112
                     /gene="DEFB105A"
                     /gene_synonym="BD-5; DEFB-5; DEFB105"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..279
                     /gene="DEFB105A"
                     /gene_synonym="BD-5; DEFB-5; DEFB105"
                     /note="beta defensin 5; defensin, beta 5; beta-defensin
                     105"
                     /codon_start=1
                     /product="beta-defensin 105 precursor"
                     /protein_id="NP_689463.1"
                     /db_xref="CCDS:CCDS34832.1"
                     /db_xref="GeneID:245908"
                     /db_xref="HGNC:HGNC:18087"
                     /translation="MALIRKTFYFLFAMFFILVQLPSGCQAGLDFSQPFPSGEFAVCE
                     SCKLGRGKCRKECLENEKPDGNCRLNFLCCRQRI"
     exon            113..154
                     /gene="DEFB105A"
                     /gene_synonym="BD-5; DEFB-5; DEFB105"
                     /inference="alignment:Splign:2.1.0"
     exon            155..1283
                     /gene="DEFB105A"
                     /gene_synonym="BD-5; DEFB-5; DEFB105"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aaggaaatcc caatctctat tccgaagagt cttccctaaa agatggccct gatcaggaag
       61 acattttatt ttctatttgc tatgttcttc attttggttc aactgccatc agggtgccag
      121 gcaggacttg atttttccca accatttcca tcaggtgagt ttgctgtctg tgagtcgtgc
      181 aagcttggtc ggggaaaatg caggaaggag tgcttggaga atgagaagcc cgatggaaat
      241 tgcaggctga actttctctg ctgcagacag aggatctgac aaaccagacc agcacacttc
      301 tggccttaga agcagacctg gatattcaaa gaagttcaag agaagttatg tggcttatcc
      361 aaatcacaca gtgagtgagt ctcagaatca ttctcatttc tttctccctt tgttacgttt
      421 tattgcttat tttttaaaga tgactttttt tctttttttt tttttttgag aaggagtctc
      481 actctgtcgc ccaggctgga gtgcagtggc tcgatcttgg ctcactgcaa cctccacctc
      541 ccgggttcaa gcaattctcc tgcttcagcc tcccaagtag ctgggactac aggcgcatac
      601 cgccatgcct ggctaatttt tgtattttta ctagagatga ggtttcacca tgttggcaag
      661 gctggtctcg atctcctgac ctcaggtgat ctgctcgcct tggcctccaa aagtgctggg
      721 attataggca tgagccacca tgctgggcga gatgaccttt aaaaaacatc aagacatgag
      781 tgtgtaccta gtatctgctc aatcagatac cactactatg tatatgtaga gtaccttaca
      841 atttatgaag tattttccat acttctctca tatgactcat gattacctta tgaggtaggt
      901 tttattactg ccatttacat ttgaaaatat tgaggctcaa gaggctgtta attcttcaga
      961 gccatagcta ggatccagta actgctgtgc acattgctgt catgttttat gtatccatct
     1021 atatgtacta actatgttaa tggaataata attctatcaa atataataca ttatttttat
     1081 attcacatta tttcttggtt tgtctaaata ttgtcattca ttgattctag tacttatggt
     1141 gtatttacct gtgaaagaaa atgattagag attaacttaa aatgttcaac acagaatatg
     1201 cataaatggt tgactgtcta attttgcctt gtgaaataaa atccagcttc acaaaataaa
     1261 ggccaaaatt accagcccta tga
//
