LOCUS       NM_153324                354 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens defensin beta 123 (DEFB123), transcript variant 1,
            mRNA.
ACCESSION   NM_153324
VERSION     NM_153324.4
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 354)
  AUTHORS   Radhakrishnan,Y., Hamil,K.G., Yenugu,S., Young,S.L., French,F.S.
            and Hall,S.H.
  TITLE     Identification, characterization, and evolution of a primate
            beta-defensin gene cluster
  JOURNAL   Genes Immun 6 (3), 203-210 (2005)
   PUBMED   15772680
  REMARK    GeneRIF: The protein encoded by this gene is thought to display
            antimicrobial activity.
REFERENCE   2  (bases 1 to 354)
  AUTHORS   Schutte,B.C., Mitros,J.P., Bartlett,J.A., Walters,J.D., Jia,H.P.,
            Welsh,M.J., Casavant,T.L. and McCray,P.B. 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 BX088805.1.
            
            On Nov 24, 2018 this sequence version replaced NM_153324.3.
            
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the host immunologic response to invading
            microorganisms. This antimicrobial protein is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 20q11.1. Two transcript variants, one
            protein-coding and the other not, have been found for this gene.
            [provided by RefSeq, Nov 2014].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY122475.1, BX088805.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000376309.4/
                                                  ENSP00000365486.3
            Protein has antimicrobial activity :: PMID: 15772680
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-354               BX088805.1         114-467
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..354
                     /gene="DEFB123"
                     /gene_synonym="DEFB-23; DEFB23; ESC42-RELD"
                     /note="defensin beta 123"
                     /db_xref="GeneID:245936"
                     /db_xref="HGNC:HGNC:18103"
                     /db_xref="MIM:616076"
     exon            1..125
                     /gene="DEFB123"
                     /gene_synonym="DEFB-23; DEFB23; ESC42-RELD"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..271
                     /gene="DEFB123"
                     /gene_synonym="DEFB-23; DEFB23; ESC42-RELD"
                     /note="beta defensin 23; beta-defensin 123; specific to
                     testis and epididymis"
                     /codon_start=1
                     /product="beta-defensin 123 precursor"
                     /protein_id="NP_697019.1"
                     /db_xref="CCDS:CCDS13180.1"
                     /db_xref="GeneID:245936"
                     /db_xref="HGNC:HGNC:18103"
                     /db_xref="MIM:616076"
                     /translation="MKLLLLTLTVLLLLSQLTPGGTQRCWNLYGKCRYRCSKKERVYV
                     YCINNKMCCVKPKYQPKERWWPF"
     exon            126..354
                     /gene="DEFB123"
                     /gene_synonym="DEFB-23; DEFB23; ESC42-RELD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      336..341
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEFB123"
                     /gene_synonym="DEFB-23; DEFB23; ESC42-RELD"
                     /note="hexamer: AATAAA"
     polyA_site      354
                     /gene="DEFB123"
                     /gene_synonym="DEFB-23; DEFB23; ESC42-RELD"
                     /note="major polyA site"
ORIGIN      
        1 actctccttc tcccattagc tcagccgtgg catcggactt gcagcttcat tttgggctgc
       61 cttagccatg aagctccttt tgctgacttt gactgtgctg ctgctcttat cccagctgac
      121 tccaggtggc acccaaagat gctggaatct ttatggcaaa tgccgttaca gatgctccaa
      181 gaaggaaaga gtctatgttt actgcataaa taataaaatg tgctgcgtga agcccaagta
      241 ccagccaaaa gaaaggtggt ggccatttta actgctttga agcctgaagc catgaaaatg
      301 cagatgaagc tcccagtgga ttcccacact ctatcaataa acacctctgg ctga
//
