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FLASH GENE
Symbol PRCD contributors: mct - updated : 21-12-2020
HGNC name photoreceptor disc component
HGNC id 32528
Corresponding disease
RP36 retinitis pigmentosa 36
Location 17q25.1      Physical location : 74.523.667 - 74.541.458
Synonym name
  • progressive rod-cone degeneration
    • Synonym symbol(s) RP36
    DNA
    TYPE functioning gene
    STRUCTURE 27.75 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1989 6 54 - 2016 27613864
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnervecranial nerve  highly
    Visualeyeretina  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • first 20 amino acids appear to encode for a signal peptide (SP)
    • HOMOLOGY
    interspecies homolog to canine Prcd
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • specifically resides in photoreceptor discs
  • small protein residing in the light-sensitive disc membranes of the photoreceptor outer segment
    • basic FUNCTION
  • playing a role in maintenance of rod photoreceptor structure, function and/or survival
  • PRCD functions likely as a secreted protein
  • palmitoylation of PRCD is crucial for its trafficking to the photoreceptor outer segment (OS) and mislocalization of this protein likely leads to RP-related phenotypes
  • function of PRCD is to keep evaginating membranes of new discs tightly apposed to each other, which is essential for the high fidelity of photoreceptor disc morphogenesis and photoreceptor survival
  • important role for PRCD in regulation of rhodopsin incorporation and packaging density into disc membranes, a process which, when dysregulated, likely gives rise to the visual defects observed in patients with PRCD-associated RP
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • rhodopsin is involved in PRCD unknown yet essential function in photoreceptors
  • interacts with rhodopsin
  • interaction between PRCD and tubby-like protein 1 (TULP1)
  • TULP1 and TUB, which are involved in the vesicular trafficking of several photoreceptor proteins from the inner segment to the outer segment, are also required for PRCD exclusive localization to photoreceptor outer segment discs
    • cell & other
    REGULATION
    Other is post-translationally modified by a palmitoyl lipid group at the cysteine residue linked with RP
    ASSOCIATED DISORDERS
    corresponding disease(s) RP36
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Prcd-knockout mice present with progressive retinal degeneration, starting at 20 weeks of age and onwards