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    DEFA4 defensin alpha 4 [ Homo sapiens (human) ]

    Gene ID: 1669, updated on 17-Jun-2019

    Summary

    Official Symbol
    DEFA4provided by HGNC
    Official Full Name
    defensin alpha 4provided by HGNC
    Primary source
    HGNC:HGNC:2763
    See related
    Ensembl:ENSG00000164821 MIM:601157
    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
    HP4; DEF4; HP-4; HNP-4
    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 are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward bone marrow (RPKM 1355.2) See more
    Orthologs

    Genomic context

    See DEFA4 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (6935820..6938306, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6793345..6795786, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 96 Neighboring gene defensin alpha 6 Neighboring gene defensin alpha 8, pseudogene Neighboring gene defensin alpha 9, 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
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

    General gene information

    Markers

    Homology

    Clone Names

    • MGC120099, MGC138296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 
    antifungal 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    antimicrobial humoral response 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-negative bacterium IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    innate immune response in mucosa IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    killing of cells of other organism IEA
    Inferred from Electronic Annotation
    more info
     
    membrane disruption in other organism IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    azurophil granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    neutrophil defensin 4
    Names
    corticostatin
    defensin, alpha 4, corticostatin
    defensin, alpha 4, preproprotein

    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_001925.3NP_001916.1  neutrophil defensin 4 preproprotein

      See identical proteins and their annotated locations for NP_001916.1

      Status: REVIEWED

      Source sequence(s)
      BU616655, DN998607, X65977
      Consensus CDS
      CCDS5961.1
      UniProtKB/Swiss-Prot
      P12838
      Related
      ENSP00000297435.2, ENST00000297435.2
      Conserved Domains (2) summary
      pfam00323
      Location:6593
      Defensin_1; Mammalian defensin
      pfam00879
      Location:1251
      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
      6935820..6938306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p13 PATCHES

      Range
      330943..333429 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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