Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RD3 contributors: mct/pgu - updated : 03-08-2010
HGNC name retinal degeneration 3
HGNC id 19689
Corresponding disease
LCA12 Leber congenital amaurosis, type 12
Location 1q32.3      Physical location : 211.649.863 - 211.666.259
Synonym name
  • chromosome 1 open reading frame 36
  • protein RD3
  • Synonym symbol(s) C1orf36
    DNA
    TYPE functioning gene
    STRUCTURE 16.40 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text two transcripts encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 4290 23 195 - 2003 12914764
    3 - 4287 23 195 - 2003 12914764
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • an N-terminal mitochondrial targeting signal
  • several consensus casein kinase II and protein kinase C phosphorylation sites
  • one predicted sumoylation site
  • putative coiled-coil domains at amino acids 2254 and 115141
  • HOMOLOGY
    interspecies ortholog to murine 3322402L07Rik
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • plays an essential role in the exit of guanylate cyclase from the ER and its trafficking to photoreceptor cone outer segments (OSs)
  • basic FUNCTION
  • may be part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing
  • mediates the membrane trafficking of GUCY2D out of the ER of cells
  • photoreceptor guanylate cyclase-binding protein required for the stable expression and membrane vesicle trafficking of GUCY2D and GUCY2F in photoreceptors
  • crucial for guanylate cyclase expression and trafficking in photoreceptors
  • chaperone trafficking protein, implicated in the stable expression of guanylate cyclase in photoreceptor cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • colocalizes and binds to GUCY2D and GUCY2F and plays a crucial role in their stable expression and membrane trafficking in rod and cone photoreceptors
  • opposes the allosteric activation of the cyclase by GUCA1A but does not significantly change Ca(2+) sensitivity of the GUCA1A-dependent regulation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCA12
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    provides a basis for developing therapeutic strategies for treating these retinal degenerative diseases
    ANIMAL & CELL MODELS