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FLASH GENE
Symbol MAGI1 contributors: mct - updated : 21-01-2011
HGNC name membrane associated guanylate kinase, WW and PDZ domain containing 1
HGNC id 946
Location 3p14.1      Physical location : 65.339.906 - 66.024.509
Synonym name
  • brain specific angiogenesis inhibitor 1 (BAI1), associated protein 1
  • atrophin-1 interacting protein 3
  • WW domain-containing protein 3
  • BAI1-associated protein 1
  • membrane associated guanylate kinase inverted-1
  • trinucleotide repeat-containing gene 19 protein
    • Synonym symbol(s) AIP3, BAP1, WWP3, MAGI-1, TNRC19, BAIAP1
    DNA
    TYPE functioning gene
    STRUCTURE 684.60 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 splicing 7235 140.3 1287 - 2005 16019084
    MAG-1B alpha/beta or variant 1/isoform a
    23 splicing 6178 136.79 1256 - 2005 16019084
    also called MAG-1A or variant 2/isoform b
    23 splicing 7062 161.5 1462 - 2005 16019084
    also called MAG-1C beta or variant 3/isoform c
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas    
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Nervousbrain   predominantly Homo sapiens
    Urinarykidneynephronrenal capsuleglomerulus  Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretoryglomerular epithelium highly
    Muscularstriatumcardiac  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumstereocilia Homo sapiens
    not specificepithelial cell
    Urinarypodocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal guanylate-kinase GUK domain
  • two WW (phosphoserine- or phosphothreonine binding) domains, first WW domain responsible for binding to AMOTL2
  • five PDZ domains (PSD95/disc large/ZO-1)
    • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to C.elegans K01A6.1
    homolog to drosophila Magi
    ortholog to murine Baiap1
    intraspecies paralog to synaptic scaffolding molecule,post synaptic density
    Homologene
    FAMILY MAGUK (membrane-associated guanylase kinase homolog) family
    CATEGORY adhesion , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    text colocalizing with TJP1
    basic FUNCTION
  • required for Rap1 activation upon cell-cell contact and for enhancement of vascular endothelial cadherin-mediated cell adhesion
  • MAGI1 cleavage appears to be an important step in the disassembly of cell-cell contacts during apoptosis
  • may play a role as scaffolding protein at cell-cell junctions
  • has the ability to replace harmonin PDZ2 binding at CDH23 C terminus
  • role in the tip-link complex, where it could provide a sturdy connection with the cytoskeleton and with other components of the mechanoelectrical transduction complex
  • scaffolding protein that allows formation of complexes between certain transmembrane proteins, actin-binding proteins, and other regulatory proteins
  • plays a role in regulation of surface expression of KCNMA1 channels in the kidney and possibly in other tissues
  • scaffolding protein implicated in the stabilization of adherens junctions
  • tumor-suppressor protein induced by PTGS2 inhibitors in colorectal cancer cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
    • protein
  • BAI1, cytoplasmic protein
  • NET1 (ligand for the first PDZ domain of BAIAP1)
  • ZCCHC14
  • interacting with IGSF5
  • binds via its PDZ4 domain to a C-terminal PDZ-binding site on CDH23
  • interacting with SDK1, interaction mediated through a direct interaction between the C-terminus of SDK1 and specific PDZ domains of MAGI1
  • substrate of PTPRZ1, with GIT1, and GTPase-activating protein for Rho GTPase (ARHGAP35)
  • MAGI1, -2, and -3 all contain WW domains and were confirmed as PRRG4-binding proteins
    • cell & other
    REGULATION
    Other efficiently cleaved into 97 kDa and 68 kDa fragments by caspases-3 and -7 at physiological concentrations
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia (Kuang 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS