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FLASH GENE
Symbol DEFB1 contributors: mct - updated : 30-05-2011
HGNC name defensin, beta 1
HGNC id 2766
Location 8p23.1      Physical location : 6.728.096 - 6.735.529
Synonym symbol(s) HBD1, BD1, DEFB101
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text within 100-150kb of DEFA cluster
STRUCTURE 7.43 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map see DEFB8@
Text transcription in cen to pter direction
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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 484 - 68 - 1997 9268634
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid   highly
Skin/Tegumentskin   moderately
Urinarykidneytubuleconvoluted tubuledistal tubulehighly
Visualeyeanterior segmentcornea   Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningcorneal epithelium   Homo sapiens
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion plasma
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
six disulfide-linked cysteines
HOMOLOGY
Homologene
FAMILY
CATEGORY immunity/defense
SUBCELLULAR LOCALIZATION extracellular
basic FUNCTION
  • cysteine-arginine rich antimicrobial peptide, implicated in the resistance to microbial colonization
  • involved in oxygen independent phagocytosis of Gram+, Gram- bacteria, many fungi, some viruses
  • component of the immune system which links the innate and adaptive immune responses
  • DEFA1 and DEFB1 promoted the up-regulation of CD91 on the dendritic cells surface
  • with DEFA1, inactivated both X4 and R5 HIV-1
  • cationic peptides produced by epithelial cells that have been proposed to be an important component of immune function at mucosal surfaces
  • one of the most prominent peptides of its class but despite ubiquitous expression by all epithelia, comparison with other defensins suggested only minor antibiotic killing activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PAX2 (PAX2 represses DEFB1 expression through binding of the PAX2 homeodomain to the DEFB1 promoter in prostate cancer)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Crohn disease
    Variant & Polymorphism other
  • genetic variations in the DEFB1 gene encoding constitutive beta-defensin 1 may be associated with the risk for Crohn disease
  • Candidate gene
  • candidate modifier gene of the CF pulmonary phenotype
  • Marker
    Therapy target
    ANIMAL & CELL MODELS