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FLASH GENE
Symbol DEFA1 contributors: mct - updated : 30-05-2011
HGNC name defensin, alpha 1
HGNC id 2761
Location 8p23.1      Physical location : 6.835.170 - 6.875.823
Synonym name
  • human neutrophil antibacterial peptide-1/cryptdin
  • defensin, alpha 1, myeloid-related sequence
  • defensin, alpha 2
  • Synonym symbol(s) HNP1, DEF1, MRS, MYRS, DEFA2, HP 1-56, MGC138393
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 2.44 kb     3 Exon(s)    5-14 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    FLJ12847 ANGPT2 8p23.1 angiopoietin 2 LPAAT-e 8p23.1 acid acyltransferase-epsilon LOC389610 8 similar to HARL2754 DEFB1 8p23.2-p23.1 defensin, beta 1 LOC392181 8 similar to 60S ribosomal protein L23a DEFA6 8p23-p21 defensin, alpha 6, Paneth cell-specific DEFA4 8p23-p22 defensin, alpha 4, corticostatin LOC392182 8 similar to demidefensin 3 DEFA1 8p23-p22 defensin, alpha 1, myeloid-related sequence DEFT1 8p23.1 defensin, theta 1 DEFA3 8p23-p22 defensin, alpha 3, neutrophil-specific DEFA5 8p23-p21 defensin, alpha 5, Paneth cell-specific LOC286031 8p23.1 hypothetical protein LOC286031 LOC286040 8p23.1 similar to FLJ10408 protein LOC389611 8 similar to FLJ10408 protein LOC389612 8 LOC389612 LOC340406 8p23.1 hypothetical LOC340406 HSPDP3 8p23.1 heat shock 60kDa protein 1 (chaperonin) pseudogene 3 DEFB103 8p23.3-p23.2 defensin, beta 103 SPAG11 8p23.2 sperm associated antigen 11 DEFB104 8p23 defensin, beta 104 DEFB106 8p23-p22 defensin, beta 106 DEFB105 8p23-p22 defensin, beta 105 LOC389613 8 similar to FLJ10408 protein LOC389614 8 similar to FLJ10408 protein LOC389615 8 similar to seven transmembrane helix receptor LOC392183 8 similar to chromosome 11 open reading frame2; chromosome  11 open reading frame2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 514 10 94 - 1997 9268634
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretorydigestive epithelium  
    Epithelialbarrier/lininguroepithelium  
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cysteine-arginine rich antimicrobial peptide with six disulfide-linked cysteines
  • leader sequence of 18AA
  • HOMOLOGY
    interspecies homolog to murine Defer
    Homologene
    FAMILY
  • alpha-defensin family
  • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • involved in oxygen independent phagocytosis of Gram+, Gram- bacteria, many fungi, some viruses, in phagocyte-mediated host defense with ERCC6 to coordinate repair and RNA POL2 proteolysis in response to DNA damage
  • contributing to the anti-HIV1 activity of CD8 antiviral factor
  • can potentially suppress hepatic glucose production through an intracellular mechanism distinct from the classical insulin signaling pathway
  • its activation requires proteolytic excision of its anionic N-terminal inhibitory pro peptide (pro peptide of proDEFA1 also interacts specifically with and inhibits the antimicrobial activity of DEFA1 inter-molecularly)
  • DEFA1 and DEFB1 promoted the up-regulation of CD91 on the dendritic cells surface
  • mediates host immune responses to tumors through the recruitment and subsequent activation of immature dendritic cells
  • contribute to innate immunity through diverse actions, including microbial killing
  • with DEFB1, inactivated both X4 and R5 HIV-1
  • induce interleukin IL8 in airway epithelial cells
  • play different roles in the pathogenesis ofidiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF), and diffuse panbronchiolitis (DPB), according to the location in the lung where the alpha-defensins are mainly produced
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ERCC6
  • cell & other
  • binds to the cell wall precursor lipid II and reduction of lipid II levels in the bacterial membrane significantly reduces bacterial killing
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    might protect pleomorphic adenomas from malignant transformation into adenocarcinomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    promising potential in cancer therapy
    ANIMAL & CELL MODELS