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FLASH GENE
Symbol DEFA5 contributors: mct - updated : 31-01-2012
HGNC name defensin, alpha 5, Paneth cell-specific
HGNC id 2764
Location 8p23.1      Physical location : 6.912.828 - 6.914.259
Synonym name criptdin, human intestinal antibacterial peptide
Synonym symbol(s) HD-5, DEF5, HD5
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 1.43 kb     2 Exon(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
2 - 449 - 94 - 2005 16039093
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine    Homo sapiens
 stomach   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularexocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
DigestivePaneth Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 2 kda signal peptide (1-19 aa)
  • six disulfide-linked cysteines
  • conserved salt bridge required for its precursor processing and proteolytic stability
  • isoforms Precursor . a 75 aa propeptide of 8.1 kda (20-94 aa), a 31 aa mature peptide of 3.6 kda (63-93 aa)
    HOMOLOGY
    interspecies homolog to chimpanzee DEFA1 (94.7 pc)
    Homologene
    FAMILY
  • cortactin/defensin family
  • alpha-defensin family
  • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • azurophil granules
  • basic FUNCTION
  • acting as an intestinal antibacterial peptide
  • may be involved in mounting antimicrobial defenses in the small bowel
  • the strongest cationic properties and unique distribution of charged residues on the molecular surface of DEFA5 may be associated with its highest bactericidal activity among human alpha-defensins
  • homeostatic role to alpha-defensins in regulating the makeup of the commensal microbiota
  • may act as a regulator of the intestinal inflammatory response
  • one of the major antimicrobial peptides secreted by Paneth cells in the human small intestine
  • produced and stored as a propeptide in Paneth cell granules, secreted in response to stimulation by cholinergic reagents or bacterial antigens
  • DEFA6 forms higher-order assemblages with slower kinetics of association and dissociation, whereas DEFA5 and other alpha-defensins rapidly (and reversibly) form dimeric complexes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with FGFR3 (FGFR3 signaling also modulates other effectors and/or pathways that are required to induce Paneth cell DEFA5 expression in addition to its effects on TCF4/CTNNB activity)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in ulcerative colitis and Crohn's disease
    constitutional     --low  
    in Crohn disease of the ileum
    Susceptibility to ileal Crohn disease
    Variant & Polymorphism other reduced expression compromises mucosal host defenses and predisposes patients to Crohn disease of the ileum
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS