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FLASH GENE
Symbol CEP290 contributors: shn - updated : 21-05-2014
HGNC name centrosomal protein 290kDa
HGNC id 29021
Corresponding disease
BBS14 Bardet-Biedl syndrome 14
JBTS5 Joubert syndrome 5
LCA10 Leber congenital amaurosis, type 10
MKS4 Meckel syndrome, type 4
SLSN6 Senior-Loken syndrome 6
Location 12q21.32      Physical location : 88.442.790 - 88.535.993
Synonym name
  • centrosomal protein of 290 kDa
  • tumor antigen se2-2
  • CTCL tumor antigen se2-2
  • monoclonal antibody 3H11 antigen
  • nephrocystin 6
  • prostate cancer antigen T21
  • cancer/testis antigen 87
  • monoclonal antibody 3H11 antigen
  • POC3 centriolar protein homolog (Chlamydomonas)
  • Bardet-Biedl syndrome 14 protein
  • Synonym symbol(s) MKS4, FLJ13615, FLJ21979, KIAA0373, NPHP6, rd16, 3H11Ag, CT87, POC3, 3H11Ag
    DNA
    TYPE functioning gene
    STRUCTURE 93.20 kb     54 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D12S1593 - D12S853 - CEP290 - D12S1598 - D12S1710 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    54 - 7972 290 2479 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Lymphoid/Immunelymph node   moderately
    Reproductivemale systemprostate   
    Respiratorynose   highly Homo sapiens
    Urinarykidney    
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningnasal epithelium highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain -bound nephrocystin-5 (IQCB1), and interacts with a known protein complex necessary for vision, INVS
  • 13 putative coiled-coil domains
  • a region with homology to SMC chromosome segregation ATPases
  • six KID motifs
  • three tropomyosin homology domains
  • an ATP/GTP binding site motif A
  • a Iq domain
  • a myosin head-like domain
  • 25 predicted protein domains, motifs and localization signals
  • several domains which engage in homo- and heterodimeric interactions (conformational changes of CEP290 regulate the interaction with other proteins and the assembly of multiprotein complexes)
  • HOMOLOGY
    interspecies ortholog to Cep290, Mus musculus
    ortholog to Cep290, Rattus norvegicus
    ortholog to cep290, Danio rerio
    Homologene
    FAMILY
    CATEGORY motor/contractile , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,chromatin/chromosome,centromere
    text
  • localized to the centrosome of dividing cells basal bodies at the base of the cilia in many different cell types, including the photoreceptor connecting cilium
  • localizes to centrioles as well as to the connecting cilium
  • of the photoreceptor cell
    basic FUNCTION
  • playing crucial role in establishing polarity and regulating intracellular transport in post-mitotic cells
  • having a critical function in ciliary transport and providing insights into the mechanism of early-onset photoreceptor degeneration
  • participating in regulating the transport of specific signaling proteins involved in odorant detection
  • plays multiple regulatory roles in protein entry into the cilium
  • localizes primarily to the TZ (transition zone) of photoreceptors and regulates ciliogenesis and photoreceptor viability
  • participate in overlapping signaling pathways to maintain photoreceptor homeostasis
  • cooperates with RAB8A to promote ciliogenesis and this function is antagonized by CP110
  • localized primarily to the (connecting) cilium (CC) adjoining the outer segment (OS) to the photoreceptor cell body, and is thought to be involved in the formation of microtubule-membrane linkers in this region
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease
  • has an important role in the proper development of both the respiratory ciliary structures and the connecting cilia of photoreceptors
  • CEP290 and CEP72 in centriolar satellites regulate the ciliary localization of BBS4, which in turn affects assembly and recruitment of the BBSome
  • is involved in the assembly of primary cilia in neural cells
  • KIAA0586 and CEP290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and RAB8A
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • retinitis pigmentosa GTPase regulator, RPGR
  • activating transcription factor 4, ATF4
  • CP110 protein
  • nephrocystin-5, NPHP5
  • pericentriolar material 1, PCM1
  • coiled-coil and C2 domain containing 2A, CC2D2A
  • CEP290 and CP110 interact with RAB8A, a small GTPase required for cilia assembly
  • interacting with PEBP1, and mutation in CEP290 may completely abolish its interaction and subsequently result in relatively higher levels of PEBP1 and subsequent mislocalization of key signaling proteins in other tissues
  • McKusick-Kaufman syndrome, MKKS
  • CEP72 is a PCM1-interacting protein required for recruitment of the ciliopathy-associated protein CEP290 to centriolar satellites
  • CEP131 is recruited to centriolar satellites by PCM1, and localised to the centriolar core region by both pericentrin and CEP290
  • direct interaction of FAM161A with lebercilin (LCA5), CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration
  • genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations
  • importance of SSX2IP for efficient recruitment of the ciliopathy-associated satellite protein CEP290 to both satellites and the basal body
  • KIAA0586 is required for centriolar satellite dispersal, which precedes the formation of mature ciliary vesicles, a process requiring CEP290
  • CCDC13 is a newly identified centriolar satellite protein that interacts with PCM1, CEP290 and pericentrin and prevents the accumulation of DNA damage during mitotic transit
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS5 , SLSN6 , LCA10 , MKS4 , BBS14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    rescues phenotypes induced by KCTD13 overexpression
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    specific region of the CEP290 protein is sufficient to restore visual function and this region may be a viable gene therapy target for LCA patients with mutations in CEP290
    neurosensorialvisualretina
    combinations of Cep290rd16 and Mkksko alleles in RD16 mice led to improved ciliogenesis and sensory functions
    ANIMAL & CELL MODELS
  • rd16 mouse, mutated in Cep290, exhibits early-onset retinal degeneration with autosomal recessive inheritance with considerable deterioration of rod and cone functions
  • Abyssinian cats with Cep290 intronic mutations Shows an autosomal recessive form of retinal degeneration closely resembling human retinitis pigmentosa
  • Knockdown of zebrafish NPHP6 leads to to severe early embryonic developmental defects prior to gastrulation. Embryos are unable to perform epiboly and never reached the gastrulation stage and display defective eye development associated with abnormal structuring of the early brain compartments
  • zebrafish embryos, combined subminimal knockdown of mkks and cep290 produced sensory defects in the eye and inner ear