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FLASH GENE
Symbol SIPA1L3 contributors: mct - updated : 26-10-2018
HGNC name signal induced proliferation associated 1 like 3
HGNC id 23801
Corresponding disease
ARCC9 congenital cataract, autosomal recessive 9
Location 19q13.13      Physical location : 38.397.867 - 38.699.006
Synonym name
  • SIPA1-like protein 3
    • Synonym symbol(s) CTRCT45, SPAL3, SPAR3
    DNA
    TYPE functioning gene
    STRUCTURE 301.50 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 8018 - 1781 - 2015 26231217
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a Rap GTPase-activating protein (Rap-GAP) domain
  • a PDZ domain, a domain of unknown function (DUF3401)
  • a C-terminal coiled-coil domain required for postsynaptic targeting and represents an interaction module for Fezzins such as LZTS3, a binding partner of the postsynaptic scaffold protein SHANK3
    • HOMOLOGY
    Homologene
    FAMILY SPAR family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • critical role for SIPA1L3 in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization
  • essential modulator of synaptic signaling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GTPase-activating protein (GAP), which interacts with small GTPases of the Rap family via its Rap-GAP-domain
  • direct interaction between SIPA1L3 and EPHA4, building a functional platform for proper ocular development
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC9
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sipa1l3(-/-) mice showed disrupted epithelial cell organization and polarity and, notably, abnormal epithelial to mesenchymal transition in the lens