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    DEFA3 defensin alpha 3 [ Homo sapiens (human) ]

    Gene ID: 1668, updated on 17-Jun-2019

    Summary

    Official Symbol
    DEFA3provided by HGNC
    Official Full Name
    defensin alpha 3provided by HGNC
    Primary source
    HGNC:HGNC:2762
    See related
    Ensembl:ENSG00000239839 MIM:604522
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HP3; DEF3; HNP3; HP-3; HNP-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. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward bone marrow (RPKM 20860.0) See more

    Genomic context

    See DEFA3 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (7015869..7018336, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6873391..6875816, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin alpha 1B Neighboring gene defensin theta 1, pseudogene 2 Neighboring gene defensin alpha 11, pseudogene Neighboring gene defensin alpha 7, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Alpha-defensins inhibit the binding of HIV-1 gp120 to CD4 through interaction with the D1 domain of CD4 PubMed
    env Human neutrophil alpha-defensin 4 (HNP4) is more effective than HNP1-3 in protecting human peripheral blood mononuclear cells from infection by both CXCR4- and CCR5-tropic HIV-1 strains, but HNP4 binds to both CD4 and gp120 weaker than does HNP1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Alpha-defensins, organism-specific biosystem (from REACTOME)
      Alpha-defensins, organism-specific biosystemHumans have 7 alpha defensin genes plus 5 pseudogenes (see HGNC at http://www.genenames.org/genefamilies/DEFA). Alpha-defensins have six cysteines linked 1-6, 2-4, 3-5. The canonical sequence of alph...
    • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
      Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
    • Defensins, organism-specific biosystem (from REACTOME)
      Defensins, organism-specific biosystemThe defensins are a family of antimicrobial cationic peptide molecules which in mammals have a characteristic beta-sheet-rich fold and framework of six disulphide-linked cysteines (Selsted & Ouellet...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    antibacterial humoral response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    antibacterial humoral response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    antimicrobial humoral immune response mediated by antimicrobial peptide IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    antimicrobial humoral immune response mediated by antimicrobial peptide IC
    Inferred by Curator
    more info
    PubMed 
    antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    antimicrobial humoral response TAS
    Traceable Author Statement
    more info
     
    cellular response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-negative bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to fungus IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response in mucosa IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    innate immune response in mucosa IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular estrogen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    killing of cells of other organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane disruption in other organism IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    neutrophil defensin 3
    Names
    defensin 3, neutrophil-specific
    defensin, alpha 3, neutrophil-specific
    neutrophil peptide 3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005217.4NP_005208.1  neutrophil defensin 3 preproprotein

      See identical proteins and their annotated locations for NP_005208.1

      Status: REVIEWED

      Source sequence(s)
      AF238378, BC027917, X13621
      Consensus CDS
      CCDS5962.1
      UniProtKB/Swiss-Prot
      P59666
      UniProtKB/TrEMBL
      Q6EZE9
      Related
      ENSP00000328359.2, ENST00000327857.7
      Conserved Domains (2) summary
      pfam00323
      Location:6694
      Defensin_1; Mammalian defensin
      pfam00879
      Location:152
      Defensin_propep; Defensin propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      7015869..7018336 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534741.2XP_011533043.1  neutrophil defensin 3 isoform X1

      Conserved Domains (2) summary
      pfam00323
      Location:73101
      Defensin_1; Mammalian defensin
      pfam00879
      Location:859
      Defensin_propep; Defensin propeptide

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p13 PATCHES

      Range
      410989..413421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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