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FLASH GENE
Symbol DAB2IP contributors: mct/pgu - updated : 13-02-2010
HGNC name DAB2 interacting protein
HGNC id 17294
DNA
TYPE functioning gene
STRUCTURE 218.41 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
text structure binding for Sp1, AP-2, AP-3, E4TF1, ISRE
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 5472 - 1132 - 2009 PMID: 199038
17 exons
14 - 3500 - 1065 - 2009 PMID: 199038
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvesselaorta  highly Homo sapiens
Endocrinethyroid   highly
Nervousbrain   highly Homo sapiensAdult
Reproductivefemale systemplacenta  highly
 female systemovary  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmoothvessel highly Homo sapiens
Muscularstriatumcardiac highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell Homo sapiens
Reproductiveepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminus containing the C2 and GAP domains constitutively binds to MAP3K5 and facilitating the release of 14-3-3 from MAP3K5
  • one PH domain and one FLR motif
  • a proline-rich region (amino acids 796-807) critical for maintaining DAB2IP in a closed form, which associates with a region of TNFR1 distinct from the death domain, the site of TNFR1 association with TRADD
  • C terminal leucine zipper domain
  • HOMOLOGY
    interspecies homolog to rattus Dip1/2
    intraspecies homolog to RASA1
    Homologene
    FAMILY
  • RAS GTPase activating protein family
  • CATEGORY regulatory , tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION
  • mediating TNF-alpha-induced ASK1 activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5, a novel mechanism by which TNF-alpha activates MAP3K5
  • transducer in TNF-induced TRAF2-dependent activation of MAP3K5 that mediates a balance between JNK versus NF-kappaB signaling
  • being essential for transducing the IRE1-mediated ER stress response
  • potent growth inhibitor by inducing G0/G1 cell cycle arrest and is proapoptotic in response to stress
  • can coordinate PI3K-Akt inactivation with ASK1 activation pathways
  • unique scaffold protein to balance pathways of cell proliferation, survival, and death
  • functions as a scaffold protein in regulating epithelial-to-mesenchymal transition by modulating nuclear beta-catenin/T-cell factor activity
  • ; suppress cell survival and proliferation through suppression of the PI3K-Act and RAS pathways and to induce apoptosis through activation of MAP3K5, a member of the JNK and MAPK14 pathways
  • endogenous inhibitor of KDR-mediated signaling, an important regulator of angiogenesis control (
  • GTPase activating protein that binds to Disabled-1, a cytosolic adapter protein involved in Reelin signaling and brain development
  • plays an important role in dendrite development and regulates the number of synapses in the cerebellum
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DAB2
  • MAP3K5
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in prostate cancer
    tumoral fusion translocation    
    fused with MLL in t(9;11) (q34;q23) in acute myeloid leukemia
    tumoral        
    leads to imbalance of cell survival and apoptosis pathways, which plays a significant role in tumor development
    Susceptibility
  • to aggressive prostate cancer
  • to early onset myocardial infarction, peripheral arterial disease, abdominal aortic aneurysms and pulmonary embolism
  • Variant & Polymorphism SNP
  • in the DAB2IP gene is associated with risk of aggressive prostate cancer (PCa), and loss of DAB2IP expression is frequently detected in metastatic PCa
  • rs7025486[A] is associated with early onset myocardial infarction, peripheral arterial disease, abdominal aortic aneurysms and pulmonary embolism
  • Candidate gene
    Marker assessment of DAB2IP may provide a prognostic biomarker in prostate carcinoma metastasis
    Therapy target
    SystemTypeDisorderPubmed
    cancermetastases 
    potential therapeutic target for Prostate Carcinoma metastasis
    ANIMAL & CELL MODELS
  • AIP1-deficient mice (AIP1-KO)
  • Dab2IP knock-down mice did not exhibit severe ataxia or cerebellar hypoplasia, but Dab2IP deficiency produced a number of cerebellar abnormalities such as a delay in the development of Purkinje cell (PC) dendrites