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FLASH GENE
Symbol LCA5 contributors: mct/npt/shn - updated : 21-12-2018
HGNC name Leber congenital amaurosis 5
HGNC id 31923
Corresponding disease
LCA5 Leber congenital amaurosis, type 5
Location 6q14.1      Physical location : 80.194.708 - 80.247.147
Synonym name
  • lebercilin
  • chromosome 6 open reading frame 152
  • epididymis secretory sperm binding protein
    • Synonym symbol(s) C6orf152
    DNA
    TYPE functioning gene
    STRUCTURE 52.44 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D6S284 - D6S2407 - LCA5 LCA5 - D6S460 - D6S2407 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 4574 100 697 - - 17546029
    9 - 4729 100 697 - - 17546029
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Respiratorylung   moderately
     nasopharynx   highly
     respiratory tracttrachea  highly
    Visualeye   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) specific Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualamacrine cell Homo sapiens
    Visualbipolar cell Homo sapiens
    Visualcone photoreceptor Homo sapiens
    Visualganglion cell Homo sapiens
    Visualhorizontal association cell Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four regions that are predicted to form coiled coils, but did not reveal other known functional motifs
    • HOMOLOGY
    interspecies ortholog to Lca5, Mus musculus
    ortholog to Lca5, Rattus norvegicus
    ortholog to lca5, Danio rerio
    ortholog to LCA5, Pan troglodytes
    Homologene
    FAMILY
  • LCA5 family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text localizes to the connecting cilia of photoreceptors and the apical part of the connecting cilium, the basal bodies, and microtubules in cultured mammalian cell (
    basic FUNCTION
  • ciliary and microtubule-associated protein
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cytoplasmic dynein, nucleophosmin, CK2, 14-3-3 scaffold proteins (
  • OFD1 (Coene 2009)
  • direct interaction of FAM161A with lebercilin (LCA5), CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCA5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS