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FLASH GENE
Symbol SAG contributors: npt/SGE/shn - updated : 03-12-2020
HGNC name S-antigen; retina and pineal gland (arrestin)
HGNC id 10521
Corresponding disease
CSNB blindness night congenital stationary, Oguchi type 1
RP47 retinitis pigmentosa 47
Location 2q37.1      Physical location : 234.216.308 - 234.255.701
Synonym name
  • ARRESTIN
  • arrestin 1
  • S-arrestin
  • rod photoreceptor arrestin
  • retinal S-antigen (48 KDa protein)
  • Synonym symbol(s) SAG1, DKFZp686D1084, DKFZp686I1383, RP47, S-AG, ARR1
    DNA
    TYPE functioning gene
    STRUCTURE 39.39 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D2S1279 - D2S2348 - SAG - D2S2234 - D2S2205 - qter
    Authors Valverde (94)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 1767 - 405 retina and pineal gland 2017 28549094
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonepithalamuspineal glandhighly
    Reproductivemale systemtestis  highly
    Visualeyeretina  specific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • A N and a C terminal arrestin domains
  • mono polymer homomer , monomer , tetramer
    HOMOLOGY
    interspecies ortholog to SAG, Pan troglodytes
    ortholog to Sag, Rattus norvegicus
    ortholog to Sag, Mus musculus
    ortholog to sag, Danio rerio
    homolog to Arr2, Arr3 and Arr4
    Homologene
    FAMILY
  • arrestin/beta-arrestin protein family
  • CATEGORY regulatory , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text retinal rod outer segments
    basic FUNCTION
  • major photoreceptor protein involved in desensitization of thephosphoactivated transduction cascade
  • binding to phosphoactivated-phosphorylated rhodopsin, apparently preventing the transducin-mediated activation of phosphodiesterase
  • inducing BDR1 (CXCR5) and CXCR3 to migrate
  • capable of inducing experimental autoimmune uveoretinitis
  • higly antigenic
  • essential for cone photoreceptor survival, light adaptation and for maintaining normal flicker responses (Brown et al, 2010)
  • protects cones from light-independent dystrophy (Brown et al, 2010)
  • maintenance of low levels of the active monomer is the biological role of SAG self-association
  • monomeric SAG is cytotoxic and WT SAG protects rods by forming mixed oligomers with the mutant and/or competing with it for the binding to non-receptor partners
  • plays a key role in the rapid recovery of the light response
  • light-induced SAG translocation from the inner segment to the outer segment, is a process that may be protective against cellular damage incurred by constitutive signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS phototransduction
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component tetramer of arrestin serve as a storage of arrestin, while only monomer binds to light-activated phosphorhodopsin (Hanson 2007)
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • photoactivated-phosphorylated rhodopsin (
  • muscarinic acetylcholine receptor, mAChR (Lee et al, 2000)
  • SAG preferentially binds active phosphorylated RHO
  • binds light-activated phosphoRHO and ensures timely signal shutoff
  • cysteines in specific positions in the SAG molecule help it maintain optimal flexibility for receptor binding
  • was selective for phosphorylated light-activated RHO
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNB , RP47
    related resource ArrestinMutations
    Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Arr1 null mice rear in cyclic light for at least 100 days and develop rod degeneration typified by the loss of photoreceptor nuclei and a decrease in outer nuclear layer thickness (Chen et al, 1999)