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FLASH GENE
Symbol RCVRN contributors: mct - updated : 03-10-2018
HGNC name recoverin
HGNC id 9937
Location 17p13.1      Physical location : 9.801.026 - 9.808.684
Synonym name
  • cancer associated retinopathy protein
  • protein CAR
  • Synonym symbol(s) RCV, CAR, RCV1
    DNA
    TYPE functioning gene
    STRUCTURE 7.66 kb     3 Exon(s)
    regulatory sequence Promoter
    text structure cis-acting elements in the 5' non-coding region that are involved in the activation and suppression of gene expression.
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1217 - 200 - 2015 26584024
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonepithalamuspineal gland  Homo sapiens
    Visualeyeretina  specific Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines cancer cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four EF hands, two of which are functional (EF2 and EF3) , and a highly conserved cysteine residue located in the third position of their first non-functional EF-hand motif (C39 in recoverin), is sensitive to redox conditions
  • neuronal calcium sensors (NCS)
  • HOMOLOGY
    Homologene
    FAMILY
  • recoverin family of neuronal calcium sensors
  • CATEGORY signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    text
  • associated to rhodopsin kinase at the disc's membrane of the outer segment of the photoreceptor, in the dark state
  • basic FUNCTION
  • photoreceptor-specific calcium binding protein, involved in recovery to the dark state
  • may be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin
  • prevents premature phosphorylation of rhodopsin until the opening of cGMP-gated ion channels causes a decrease in intracellular calcium levels, signaling completion of the light response
  • in photoreceptor outer segments, recoverin is involved into the recovery of visual cycle via Ca(2+)-dependent interaction with disk membranes and inhibition of GRK1
  • RCVRN potentiates the sensitivity of cones in dim light conditions but does not contribute to their capacity to function in bright light
  • is the first retina-specific photoreceptor protein that was shown to undergo aberrant expression, due to its promoter demethylation, as a cancer-retina antigen in a number of malignant tumors
  • potential involvement of thiol oxidation of recoverin in triggering of photoreceptor cell damage/death mechanisms
  • is one of a few photoreceptor proteins demonstrating thiol oxidation in response to moderate doses of light illumination
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • recoverin prevents rhodopsin phosphorylation by sterically blocking a region of kinase essential for its interaction with rhodopsin, thereby preventing recognition of rhodopsin as a kinase substrate
  • regulates the activity of rhodopsin kinase, GRK1, in a Ca2+-dependent manner
  • IRX6 can activate or repress transcription through Iroquois-binding sites found proximal to RCVRN, VSX1 and TACR3
  • RCVRN is a small Ca(2+)-binding protein that inhibits rhodopsin kinase GRK1
  • coordinates two calcium ions by the second and the third EF-hand motifs thereby exposing its GRK1-recognizing site and N-terminal myristoyl group according to the mechanism known as a ‘Ca2+-myristoyl switch
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly expressed in cancer-associated retinopathy (role in the GRK-dependent cellular regulation in cancer cells)
    tumoral     --other  
    aberrant hypomethylation of the recoverin gene region, overlapping the promoter up-stream of the first exon and the first exon itself, is involved in the aberrant expression of recoverin in tumor cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    is a potential therapeutic target and/or marker for renal tumors
    ANIMAL & CELL MODELS