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FLASH GENE
Symbol IMPG1 contributors: /mct - updated : 17-10-2019
HGNC name interphotoreceptor matrix proteoglycan 1
HGNC id 6055
Corresponding disease
BCAMD1 benign concentric annular macular dystrophy 1
VMD4 macular dystrophy, vitelliform 4
Location 6q14.1      Physical location : 76.631.061 - 76.782.335
Synonym name
  • sialoprotein associated with cones and rods
  • interphotoreceptor matrix proteoglycan of 150 kDa
  • Synonym symbol(s) IPM150, SPACR, GP147
    DNA
    TYPE functioning gene
    STRUCTURE 151.27 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D6S313 - STGD3 - D6S252 - D6S249 - IMPG1 ,MCDR1 - D6S1671 - PBCRA1 - D6S301- qter
    Authors Felbor (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3268 89.25 797 - 2000 10937595
    - - 3342 - 719 - 2000 10937595
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Visualeye     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoptic nerve
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, anterior segment,retina foveal macular,optic nerve
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • functional hyaluronan binding domain and not etablished glycosaminoglycan attachment site
  • three sites for N glycosylation
  • two SEA domains (after sea urchin sperm protein, enterokinase, and agrin), a highly conserved structure composed of four anti-parallel beta sheets surrounded by alpha helices
  • a central mucin-like domain
  • an EGF-like domain in the C-terminal region
  • conjugated GlycoP , Other
    HOMOLOGY
    Homologene
    FAMILY
  • extracellular matrix glycoconjugates family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    text photoreceptor layer including IPM, cone pedicles, rod spherules
    basic FUNCTION
  • participating in retinal adhesion and in maintaining photoreceptor viability
  • photoreceptor cell-associated chondroitin-sulfate proteoglycan
  • important role for IMPG1 and CD44 in the development of photoreceptors and IPM (interphotoreceptor matrix) formation during human retinogenesis
  • IMPG1 and IMPG2 have distinct pattern distributions in the IPM, and both cones and rods are surrounded by IMPG proteoglycans
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of interphotoreceptor matrix, associated with cones and rods
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • when IMPG2 is absent, IMPG1 cannot integrate into the interphotoreceptor matrix (IPM), leading to abnormal proteoglycan accumulation and visual deficits )
  • cell & other
  • with IMPG2, bind to hyaluronan, a glycosaminoglycan molecule that is essential for the organization of the interphotoreceptor matrix (Bandah-Rozenfeld 2010)
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BCAMD1 , VMD4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking both Impg1 and Impg2, regardless of sex, showed normal retinal structure and function, demonstrating that the aberrant Impg1 distribution is the main cause of the visual alterations observed in the absence of Impg2 )