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FLASH GENE
Symbol SAG contributors: npt/SGE/shn - updated : 20-05-2012
HGNC name S-antigen; retina and pineal gland (arrestin)
HGNC id 10521
Corresponding disease
CSNB blindness night congenital stationary, Oguchi type 1
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)
    Physical map
    ALPP 2q37.1 alkaline phosphatase, placental (Regan isozyme) ALPPL2 2q37 alkaline phosphatase, placental-like 2 LOC391492 2 similar to xce ALPI 2q37.1 alkaline phosphatase, intestinal ECEL1 2q36-q37 endothelin converting enzyme-like 1 LOC389083 2 similar to enterokinase CHRND 2q37 cholinergic receptor, nicotinic, delta polypeptide CHRNG 2q37.1-q37.2 cholinergic receptor, nicotinic, gamma polypeptide TIGD1 2q36.1 tigger transposable element derived 1 EIF4EL3 2q37.3 eukaryotic translation initiation factor 4E-like 3 FLJ13612 TNRC15 2q37.1 trinucleotide repeat containing 15 KCNJ13 2q37 potassium inwardly-rectifying channel, subfamily J, member 13 LOC389084 2 similar to ASCL830 NGEF 2q37 neuronal guanine nucleotide exchange factor NEU2 2q37 sialidase 2 (cytosolic sialidase) INPP5D 2q36-q37.1 inositol polyphosphate-5-phosphatase, 145kDa APG16L 2q37.1 APG16 autophagy 16-like (S. cerevisiae) SAG 2q37.1 S-antigen; retina and pineal gland (arrestin) DGKD 2q37.1 diacylglycerol kinase, delta 130kDa USP40 2q37.1 ubiquitin specific protease 40 UGT1A12P 2q37 UDP glycosyltransferase 1 family, polypeptide A12 pseudogene UGT1A11P 2q37 UDP glycosyltransferase 1 family, polypeptide A11 pseudogene UGT1A@ 2q37 UDP glycosyltransferase 1 family, polypeptide A cluster LOC391493 2 similar to UDP-glucuronosyltransferase 1-5 precursor, microsomal (UDP-glucuronosyltransferase 1A5) (UDPGT) (UGT1*5) (UGT1-05) (UGT1.5) (UGT-1E) (UGT1E) UGT1A2P 2q37 UDP glycosyltransferase 1 family, polypeptide A2 pseudogene LOC389085 2 similar to hypothetical protein FLJ40243 LOC339766 2q37.2 hypothetical protein LOC339766 DKFZp762E1312 2q37.2 hypothetical protein DKFZp762E1312 LOC151507 2q37.2 similar to male-specific lethal 3-like 1 isoform a; drosophila MSL3-like 1 TRPM8 2q37.1 transient receptor potential cation channel, subfamily M, member 8 SPP2 2q37 secreted phosphoprotein 2, 24kDa ARL7 2q37.2 ADP-ribosylation factor-like 7
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 1767 - 405 retina and pineal gland Yamaki et al, 1990
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonepithalamuspineal glandhighly
    Visualeyeretina  specific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor
    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
    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)
  • 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)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNB
    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)