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FLASH GENE
Symbol MDGA1 contributors: mct - updated : 11-07-2014
HGNC name MAM domain containing glycosylphosphatidylinositol anchor 1
HGNC id 19267
Location 6p21.2      Physical location : 37.600.283 - 37.665.766
Synonym name
  • glycosyl-phosphatidyl-inositol-MAM
  • GPI and MAM protein
  • MAM domain-containing protein 3
    • Synonym symbol(s) GPIM, MAMDC3, FLJ45018, DKFZp686L0262
    DNA
    TYPE functioning gene
    STRUCTURE 65.00 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text One 5kb transcript (highly expressed in cancer cell lines) and one 9.5kb transcript
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 8907 137 955 - 2010 21505559
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrainhindbraincerebellum   Rattus norvegicusAdult
     brainforebraincerebral cortex   Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six immunoglobulin-like (Ig-like) domains
  • one fibronectin type III domain
  • one MAM domain
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus LOC309659
    ortholog to murine Mdga1 (90 pc)
    Homologene
    FAMILY GPI-anchored immunoglobulin superfamily
    CATEGORY adhesion , secretory
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • attached to the eukaryotic cell membrane by a GPI (Glycosylphosphatidylinositol) anchor and localized specifically into membrane microdomains known as lipid rafts
    • basic FUNCTION
  • may be involved in tumor progression
  • has critical functions in forebrain/midbrain development
  • acts cell autonomously to control the migration of MDGA1-expressing superficial layer cortical neurons
  • functions in MDGA1-expressing nerves en route to and at their target site
  • is involved in the migration and positioning of a subset of cortical neurons, suggesrting that the radial migration of upper-layer neurons might be differentially regulated
  • mediates cell-cell adhesiveness in a heterophilic manner
  • MDGA1 and MDGA2 are Ig superfamily adhesion molecules
  • MDGA1, MDGA2 regulate inhibitory synapses via their direct interaction with NLGN2
  • is one of few identified negative regulators of synapse development with a unique selectivity for inhibitory synapses
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts heterophilically with axon-rich regions, mainly through its MAM domain, also interacts with differentiating muscle through its N-terminal region, which contains Ig domains
  • MDGA1, MDGA2 bind to NLGN2, a cell-adhesion molecule of inhibitory synapses, but do not bind detectably to NLGN1 or NLGN3
  • MDGA1-inhibited the synapse-promoting activity of NLGN2, without altering neuroligin-2 surface trafficking, by inhibiting interaction of NLGN2 with neurexin
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to schizophrenia
  • to bipolar disorder
    • Variant & Polymorphism SNP
  • C-C haplotype of rs11759115-rs7769372 was positively associated with schizophrenia
  • Rs1883901 was found to be positively associated with bipolar disorder
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS