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FLASH GENE
Symbol MPP1 contributors: mct - updated : 19-04-2017
HGNC name membrane protein, palmitoylated 1, 55kDa
HGNC id 7219
Location Xq28      Physical location : 154.006.959 - 154.033.802
Synonym name
  • aging-associated gene 12
  • erythrocyte membrane protein p55
  • palmitoylated membrane protein 1
  • aging-associated gene 12
    • Synonym symbol(s) DXS552E, EP55, AAG12, DXS552, EMP55, MRG1, PEMP, p55
    DNA
    TYPE functioning gene
    SPECIAL FEATURE tail to tail
    text transcribed in the same orientation from telomere to centromere with F8, but tail to tail with DKC1
    STRUCTURE 26.84 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - ATF4P - G6PD /IKBKG - MPP1 /DKC1 DKC1 - F8 - DXS115 - qter
    Text see F8 , FLNA
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2067 - 466 - 2009 18952129
    13 - 2216 - 436 - 2009 18952129
    12 - 2007 - 446 - 2009 18952129
    12 - 2016 - 449 - 2009 18952129
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear    
    Lymphoid/Immunespleen   highly
     thymus   highly
    Reproductivefemale systemplacenta  highly
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    Hearing / Equilibriumstereocilia
    NervousSchawnn cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three Dlg (DHR/GLGZ/PDZ) motifs
  • a SH3 domain
  • presence of multiple cholesterol-binding sites in MPP1 that could explain at least one of the possibilities of its involvement in resting-state membrane-raft formation
  • a C terminal GUK domain
    • HOMOLOGY
    interspecies homolog to Drosophila lethal dics large tumor suppressor protein (Dlg)
    Homologene
    FAMILY
  • MAGUK family
    • CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text colocalize with whirlin in the retina at the outer limiting membrane (OLM), at the outer synaptic layer and at the basal bodies and the ciliary axoneme
    basic FUNCTION
  • involved in coupling the cytoskeleton to the cell membrane (EPB41)
  • is a membrane skeleton protein participating in the formation of “vertical” linkage between membrane skeleton and membrane bilayer containing integral proteins
  • conserved scaffolding protein with postulated functions in cell shape, hair cell development, and neural patterning of the retina
  • mediator of the frontness signal required for neutrophil polarization
  • required for neutrophil polarization by regulating Akt phosphorylation through a mechanism that is independent of PI3Kgamma activity
  • regulates neutrophil polarity, and functions as a positive upstream effector of Akt phosphorylation and the role in neutrophil polarity have functional implications for both autoinflammatory diseases and infections
  • having may be a role in the regulation of the apico-basal Crumbs polarity complex and actin polymerization in both ear and retina
  • is the major target of palmitoylation in the RBC (Red blood cells)
  • important role of MPP1 palmitoylation in determination of the membrane properties of the RBC
  • crucial role of MPP1 in lateral membrane ordering/organization in HEL cells (derived from erythroid precursors)
  • importance of MPP1 for lateral membrane organization
  • can modulate membrane properties such as the fluidity and phase separation capability of giant plasma membrane-derived vesicles
  • is a major target of palmitoylation in red blood cells
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    intracellular signaling cascade
    a component
  • forms a tripartite protein complex with EPB41L3 and CADM1, MPP2, MPP3
  • important component of the ternary complex that attaches the spectrin-based skeleton to the plasma membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds MPP5 and whirlin at the outer limiting membrane of the retina
  • links the Usher protein network and the Crumbs protein complex in the retina (link of the core developmental processes of actin polymerization and establishment/maintenance of apico-basal cell polarity through MPP1)
  • interaction with the FERM domain of protein EPB41 establishing physical linkage of MAGUKs to the actin cytoskeleton
  • interaction with NF2 protein (MPP1-NF2 protein interaction may play a functional role in the regulation of apico-basal polarity and tumor suppression pathways in non-erythroid cells)
  • with MPP2 and MPP3, interact with CADM1 and EPB41L3 mainly through PDZ-binding motif of CADM1 and the core region of FERM domain in EPB41L3, respectively
  • binds to a 51-AAs peptide, encoded by exon 10, located within the FERM domain of EPB41
    • cell & other
    REGULATION
    Other palmitoylated
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    absence of palmitoylated MPP1 results in a loss of ordered raft domains
    constitutional       loss of function
    by loss of palmitoylation attributable to absence of DHHC17 membrane associated with hemolytic anemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS