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FLASH GENE
Symbol MPDZ contributors: mct/npt/pgu/shn - updated : 03-09-2014
HGNC name multiple PDZ domain protein
HGNC id 7208
Corresponding disease
HYC2 Hydrocephalus, nonsyndromic, autosomal recessive 2
Location 9p23      Physical location : 13.105.708 - 13.250.365
Synonym name
  • multi-PDZ domain protein 1
  • Synonym symbol(s) DKFZp781P216, FLJ25909, FLJ34626, FLJ90240, MUPP1
    DNA
    TYPE functioning gene
    STRUCTURE 144.66 kb     45 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D9S1687 - D9S268 - MPDZ - D9S1808 - D9S1869 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    45 - 7454 - 2041 - 2009 19420109
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately Homo sapiens
    Digestiveliver   highly
    Endocrineneuroendocrinepituitary  highly
     pancreas   lowly Homo sapiens
     parathyroid   moderately
    Nervousbrain   lowly Homo sapiens
     nerve   predominantly
    Reproductivefemale systemplacenta  lowly Homo sapiens
     male systemtestis    Homo sapiens
    Urinarykidneyrenal medulla   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, highly in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an L27 domain
  • an MRE domain
  • 13 PDZ binding domains
  • HOMOLOGY
    interspecies ortholog to Mpdz, Rattus norvegicus
    ortholog to Mpdz, Mus musculus
    ortholog to MPDZ, Pan troglodytes
    Homologene
    FAMILY
  • JEAP family proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,cytoplasm,organelle,endosome
    text
  • in synapse
  • localize at tight junctions (TJs) and apical membranes
  • directly binding with AMOT redistributes MPDZ and its binding partners from the plasma membrane to endosomes
  • basic FUNCTION
  • may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses
  • may be involved in intracellular signaling cascade
  • functioning as a multivalent scaffold protein that recruits various proteins to tight junction strands
  • may be involved in organizing signaling molecules mediating primary reactions of fertilization
  • scaffolding protein for organizing signaling complexes in the acrosome of mammalian spermatozoa
  • PDZ-domain protein may be involved in organizing signaling molecules mediating primary reactions of fertilization
  • with KCNJ15 may participate in a protein complex in the nephron that could regulate transport of K(+) as well as other ions
  • interact with multiple viral and cellular proteins and to play important roles in receptor targeting and trafficking
  • may be essential for normal development of the retina and may have a role in maintaining photoreceptor integrity
  • precise balance between MPDZ and INADL is achieved in epithelial cells by regulating their association with MPP5
  • its expression in the caudolateral substantia nigra pars reticulata is crucially involved in risk for alcohol withdrawal
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • member of the NMDAR signaling complex
  • AMOT forms a ternary complex together with INADL (or its paralogue MPDZ) and PLEKHG5, involved in directional migration of capillaries in the embryo
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • membrane-spanning proteoglycan NG2 via the PDZ domain 1 (
  • c-Kit C-terminus (
  • 5-hydroxytryptamine type 2C (5-HT(2C)) receptor (
  • claudin 1 (
  • the Ad9 E4-ORF1 oncoprotein via the PDZ domains 7 and 10
  • F11R via the PDZ domain 9
  • the C-terminus of CLDN1 and KIT and the C-terminal PDZ-binding motif of HTR2C via the PDZ domain 10
  • CXADR via the PDZ domain 13
  • CAMK2A and CAMK2B via the PDZ domain 2
  • PLEKHA1 and PLEKHA2 via the PDZ domains 10 and 13
  • tandem-pleckstrin-homology-domain-containing protein TAPP1 (
  • SYNGAP1 via the PDZ domain 13 (
  • angiomotin (AMOT), JEAP/AMOT-like 1 and MASCOT/Amot-like 2, which we refer to as AMOT/JEAP family proteins
  • somatostatin receptor 3, SSTR3
  • KCNJ15
  • INADL
  • AMOT
  • MPDZ and INADL are closely related scaffold proteins and bind to many common interactors including MPP5 (protein associated with Lin seven) a member of the Crumbs complex
  • cell & other
  • coxsackievirus and adenovirus receptor (
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HYC2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • premature stop codon (c.1372C&
  • 8594;T, p.R458X) in mpdz gene causes recessively inherited retinal dysplasia and degeneration (rdd) chicken (