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FLASH GENE
Symbol IL1RAPL1 contributors: mct/pgu - updated : 29-10-2012
HGNC name interleukin 1 receptor accessory protein-like 1
HGNC id 5996
Corresponding disease
MRX21 mental retardation, 21
Location Xp21.3      Physical location : 28.605.680 - 29.974.017
Synonym name
  • oligophrenin-4
  • X-linked interleukin-1 receptor accessory protein-like 1
  • three immunoglobulin domain-containing IL-1 receptor-related 2
  • interleukin 1 receptor-8
  • Synonym symbol(s) IL1RAPL, OPHN4, IL1R8, TIGIRR-2, MRX10, MRX21, MRX34
    DNA
    TYPE functioning gene
    STRUCTURE 1368.34 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - DXS1094 - DXS67 - DXS28 - IL1RAPL1 - DXS704 - DXS7783 - DXS1218 - DXS1088 - DXS1025 - NR0B1 - DXS1023 - GK - DMD DMD - cen
    Authors UCSC (2009)
    Physical map
    LOC220895 Xp22.12 similar to methyltransferase-like protein 1 isoform a; D1075-like gene product LOC389842 X similar to Ran-specific GTPase-activating protein (Ran binding protein 1) (RanBP1) MGC33889 Xp22.12 hypothetical protein MGC33889 LOC392433 X similar to melanoma antigen, family B, 6 MAGEB6 Xp22.11 similar to melanoma antigen, family B, 6 LOC347541 Xp22.12 similar to melanoma antigen 2 VENTX2P1 Xp22.12 VENT-like homeobox 2 pseudogene 1 LOC347543 Xp22.11 similar to 60S ribosomal protein L7 HMGA1L1 Xp22 high mobility group AT-hook 1-like 1 LOC139420 Xp22.11 similar to KIAA1387 protein RDXP2 Xp22.12 radixin pseudogene 2 FLJ32742 Xp22.11 hypothetical protein FLJ32742 LOC347442 Xp22.11 similar to H326 FLJ32965 Xp22.11 hypothetical protein FLJ32965 LOC392434 X similar to melanoma antigen LOC392435 X similar to melanoma antigen LOC392436 X similar to melanoma antigen MAGE LOC340569 Xp22.11 pseudogene of origin recognition complex, subunit 1-like LOC139425 Xp22.11 similar to H326 IL1RAPL1 Xp22.1-p21.3 interleukin 1 receptor accessory protein-like 1 MAGEB2 Xp21.3 melanoma antigen, family B, 2 MAGEB3 Xp21.3 melanoma antigen, family B, 3 MAGEB4 Xp21.3 melanoma antigen, family B, 4 MAGEB1 Xp21.3 melanoma antigen, family B, 1 NR0B1 Xp21.3 nuclear receptor subfamily 0, group B, member 1 FLJ11577 Xp21.3 hypothetical protein FLJ11577 LOC392437 X similar to hypothetical protein GK Xp22.3-p21.3 glycerol kinase TAB3 Xp21.3 TAK1-binding protein 3 FTHL17 Xp21 ferritin, heavy polypeptide-like 17 DMD Xp21.3-p21.2 dystrophin (muscular dystrophy, Duchenne and Becker types)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2679 - 696 - 2007 17502602
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text developing and post natal hippocampus, kidney and perception cortices
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • an extracellular domain (ECD)with three Ig-like motifs, required and sufficient for the presynaptic differentiation-inducing activity, while both the ECD and cytoplasmic domain were essential for the spinogenic activity , and induce excitatory pre-synapse formation by interacting with PTPRD
  • a transmembrane segment
  • a cytoplasmic domain with the Toll homology domain also called TIR domain, interacting with ARHGAP22, which is localized at the excitatory post-synaptic density
  • C-terminal domain mediating the interaction with the neuronal calcium sensor-1 protein
  • HOMOLOGY
    intraspecies paralog to IL1RAPL2
    Homologene
    FAMILY
  • interleukin-1 receptor family
  • family of IL1/Toll receptors
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text
  • located at the synaptic sites and particularly in growth cones of dendrites of cultured hippocampal neurons
  • present in dendritic spine where it interacts with DLG4, a major component of excitatory postsynaptic compartment
  • basic FUNCTION
  • involved in the release of neurotransmitters that have an effect of synapse structure and plasticity (through an implication in the regulation of exocytosis)
  • physiogical processes underlying memory and learning abilities
  • implicated in calcium-regulated vesicle release and dendrite differentiation
  • may be modulating neurotransmitter release and synaptic activity and/or building-up in the nervous system
  • regulates N-type Ca2+-channel and neurite elongation
  • participates in the regulation of neurite outgrowth and exocytosis, via its interaction with FREQ and the down-regulation of calcium channels
  • may be involved in both synapse formation during development and modulation of synaptic transmission
  • exerts a key function during cerebellar development in establishing local excitation/inhibition balance
  • synaptogenic activity of IL1RAPL1 was specific for excitatory synapses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact by way of its 150AA C-terminal domain with the neuronal calcium sensor-1 protein (FREQ), a protein widely expressed in neurons
  • interaction with DLG4 discloses a novel pathophysiological mechanism of cognitive impairment associated with alterations of the JNK pathway leading to a mislocalization of DLG4 and abnormal synaptic organization and function
  • regulates the synaptic localization of DLG4 by controlling JUN N-terminal kinase activity and DLG4 phosphorylation
  • interaction of the IL1RAPL1 family of proteins with PTPRD and ARHGAP22 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling that regulates excitatory synapse and dendritic spine formation
  • mediates synapse formation through trans-synaptic interaction with PTPRD
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS