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FLASH GENE
Symbol ANTXR1 contributors: mct - updated : 05-06-2013
HGNC name anthrax toxin receptor 1
HGNC id 21014
Corresponding disease
GAPOS GAPO syndrome ( growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy)
Location 2p13.3      Physical location : 69.240.275 - 69.476.457
Synonym name tumor endothelial marker 8
Synonym symbol(s) ATR, TEM8, FLJ10601, FLJ21776
DNA
TYPE functioning gene
STRUCTURE 236.18 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 5909 - 564 - 2013 23602711
  • V1
  • transmembrane glycoprotein
  • 15 - 1667 - 368 - 2013 23602711
  • V2
  • structurally similar to variant 1 but contains a much shorter cytoplasmic domain (amino acids 343368)
  • 13 - 2360 - 333 - 2013 23602711
  • V3
  • not contain the transmembrane or cytoplasmic domains and is predicted to be secreted
  • the most abundant of all isoforms
  • - splicing 1740 - 528 ubiquitous 2012 22912819
  • membrane-bound form of the receptor
  • to be as efficient a receptor as V1 and V2
  • - splicing 1241 - 358 only in the prostate 2012 22912819
  • secreted
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain    
    Respiratorylung    
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretoryalveolar epithelium highly
    Epithelialabsorptive excretorydigestive epithelium (mucosa)  
    Epithelialbarrier liningepidermis  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymhoid/Immunelymphocyte
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines tumor endothelial cell line, not in normal blood vessels
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 293-AA extracellular domain with 3 putative end-length glycosylation sites, binding preferentially to collagen
  • a 23-AA putative transmembrane region followed by the short cytoplasmic tail
  • an extracellular von Willebrand factor type A (VWA) domain is located between residues 44 and 216
  • a segment in the cytoplasmic tail of ANTXR1 required for its association with the cytoskeleton
  • HOMOLOGY
    Homologene
    FAMILY ATR family
    CATEGORY storage
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • plays a positive role in endothelial cell activities related to angiogenesis
  • docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax
  • functioning as an adhesion molecule mediating cell spreading on immobilized protective antigen and collagen I
  • exists in different forms at the cell surface, a structure dependent on interactions with components of the actin cytoskeleton
  • developmentally controlled expression of ANTXR1 modulates endothelial cell response to canonical Wnt signaling to regulate vessel patterning and density
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in contrast to integrins, ANTXR1 does not use an adaptor to bind the cytoskeleton
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GAPOS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in tumor endothelial cells
    constitutional germinal mutation      
    in infantile hemangiomas, mutations resulting in increased interactions among KDR, ANTXR1, and beta 1 integrin proteins and in inhibition of integrin activity
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerangiogenesis 
    ANTXR1 targeting may allow selective inhibition of pathological angiogenesis
    ANIMAL & CELL MODELS