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FLASH GENE
Symbol DAB1 contributors: mct - updated : 23-08-2017
HGNC name DAB1, reelin adaptor protein
HGNC id 2661
Corresponding disease
SCA37 spinocerebellar ataxia 37
Location 1p32.2      Physical location : 57.463.578 - 58.716.211
Synonym name
  • disabled homolog 1
  • Synonym symbol(s) SCA37
    DNA
    TYPE functioning gene
    STRUCTURE 1252.63 kb     17 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC391041 1 hypothetical gene supported by BC004945 THEA 1p31.3 thioesterase, adipose associated MGC27169  hyporthetical protein MGC27169 TTC4 1p31.3 tetratricopeptide repeat domain 4 DKFZp727A071 1p32.2 similar to tRNA synthetase class II FLJ20619 1p32.3 hypothetical protein FLJ20619 FLJ40201 1p32.3 hypothetical protein FLJ40201 DHCR24 1p32 24-dehydrocholesterol reductase LOC199964 1p32.3 hypothetical protein LOC199964 BSND 1p31 hypothetical protein LOC199964 PCSK9 1p32.3 proprotein convertase subtilisin/kexin type 9 USP24 1p32.2-p31.2 ubiquitin specific protease 24 LOC388634 1 similar to Ubiquitin carboxyl-terminal hydrolase 24 (Ubiquitin thiolesterase 24) (Ubiquitin-specific processing protease 24) (Deubiquitinating enzyme 24) LOC388635 1 LOC388635 LOC391042 1 similar to glycogenin LOC391043 1 similar to Aspartate aminotransferase, mitochondrial precursor (Transaminase A) (Glutamate oxaloacetate transaminase-2) LOC127406 1p32.2 similar to 33K laminin receptor homolog - bovine PPAP2B 1pter-p22.1 phosphatidic acid phosphatase type 2B PRKAA2 1p31 protein kinase, AMP-activated, alpha 2 catalytic subunit LOC199920 1p32.2 hypothetical protein LOC199920 C8A 1p32 complement component 8, alpha polypeptide C8B 1p32 complement component 8, beta polypeptide DAB1 1p32-p31 disabled homolog 1 (Drosophila) MPRP-1 1p32.1 metalloprotease related protein 1 TACSTD2 1p32-p31 tumor-associated calcium signal transducer 2 AK2B 1p32.1 adenylate kinase 2 pseudogene KIAA1915 1p32.1 KIAA1915 protein JUN 1p32-p31 v-jun sarcoma virus 17 oncogene homolog (avian) LOC391044 1 similar to prohibitin FLJ10986 1p32.1 hypothetical protein FLJ10986
    RNA
    TRANSCRIPTS type messenger
    text
  • the four consensus DAB1 tyrosine phosphorylation motifs are located within four adjacent exons (exons 6 to 9) (PMID: 22586277)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 2580 - 555 expressed in amacrine and ganglion cells of retina, and expressed in childhood neural tumors 2011 22163036
  • DAB1L
  • DAB1-L driving SFK phosphorylation
  • - - - - - expressed in retinal progenitor cells, and expressed in childhood neural tumors 2011 22163036
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
     spinal cord     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal phosphotyrosine-binding (PTB) domain with contains a PH-like subdomain that binds to phosphoinositides, protein interaction/phosphotyrosine binding (PI/PTB) domain that associates with the NPXY motifs in APOER2 and VLDLR
  • a PID domain
  • HOMOLOGY
    intraspecies homolog to Drosophila disabled -1
    homolog to murine disabled -1
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • putative intracellular tyrosine kinase adaptor protein
  • likely involved in brain development
  • activating tyrosine kinases
  • intracellular adaptor that is tyrosine phosphorylated when RELN, a secreted glycoprotein, binds to the lipoprotein receptors VLDLR and ApoER2 on the surface of neurons
  • involved in neuronal migration and lamination in the developing cerebral cortex
  • resides within an unstable common site fragile region and might play a role in tumorigenesis
  • key signaling molecule in the Reelin pathway that plays a critical role in neuronal migration and positioning during brain development 5)
  • is required in radially migrating neurons for glia-independent somal translocation, but not for glia-guided locomotion
  • mediates reelin signalling and plays critical roles in early brain development such as the stereotypical positioning of neurons in the brain
  • may function as a tumor suppressor
  • plays a key role in reelin-mediated neuronal migration during brain development
  • adaptor protein that is an obligate effector of the RELN signaling pathway, and is critical for neuronal migration and dendrite outgrowth during development
  • critical regulator of synaptic function and hippocampal-dependent associative and spatial learning
  • DAB1 functions downstream of reelin action on the homeostasis of the crypt-villus unit
  • possible involvements of RELN and DAB1 in the peripheral migrating stream
  • plays a vital role in cytoskeleton, neuronal migration, and proliferation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text neuronal development (neurogenesis)
    PATHWAY
    metabolism
    signaling
  • important role for RELN-DAB1 signaling in the adult forebrain
  • RELN/DAB1 signaling in the embryonic limb regulates the chondrogenic differentiation of digit mesodermal progenitors
  • RELN-DAB1 signaling pathway regulates development of the mammalian brain, including neuron migrations in various brain regions, as well as learning and memory in adults
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • non receptor tyrosine kinase, VLDLR, APOER2
  • interaction with Src and Crk
  • interacting with CUL5 (plays an essential role in regulating neuron migrations during cortical development, possibly by opposing a promigratory effect of DAB1) (Feng 2007)
  • interacting with FYN (FYN modulation of DAB1 having effects on amyloid precursor protein and LRP8 processing) (Hoe 2008)
  • NOVA2 regulates an RNA switch controlling the ability of DAB1 to mediate neuronal responsiveness to reelin signaling and neuronal migration
  • STK25 regulates neuronal polarization and Golgi morphology in an antagonistic manner to DAB1
  • induction of Disabled-1 (DAB1) tyrosine phosphorylation, and the subsequent activation of Src family kinases, were found to be essential steps for the activation of NOTCH1 signaling by RELN
  • DAB1 suppresses SH3KBP1 phosphorylation at Ser587
  • SH3KBP1 participates in RELN signaling through the binding to DAB1
  • major role of VEGFA in the regulation of RELN signaling, and DAB1 as a key molecule in the cross talk between reelin and VEGFA signaling pathways
  • RELN governs cell migration through activation of multiple intracellular signaling events by means of the receptors LRP8 and VLDLR, and the intracellular adaptor protein Disabled-1 (DAB1)
  • during neuronal migration RELN interacts with PAFAH1B1 and induces nuclear translocation, accompanied by the ubiquitination of phosphorylated DAB1
  • extracellular Reelin binds to cell surface receptors and activates phosphorylation of the intracellular DAB1 protein
  • mediated AGT-induced podocyte apoptosis via MAPK14 signaling pathway
  • cell & other
    REGULATION
    Phosphorylated by RELN (extracellular Reelin binds to cell surface receptors and activates phosphorylation of the intracellular DAB1 protein) )
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA37
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • DAB1 is a candidate AD (Alzheimer disease) liability/protection gene, although the strength of the contribution of DAB1 may differ among populations
  • Marker
    Therapy target
    ANIMAL & CELL MODELS