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CEP290

Official Full Name
centrosomal protein 290
Organism
Homo sapiens
GeneID
80184
Background
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Synonyms
CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag;
Bio Chemical Class
mRNA target
Protein Sequence
MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY
Open
Disease
Inherited retinal dystrophy
Approved Drug
0
Clinical Trial Drug
1 +
Discontinued Drug
0

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Detailed Information

Located on chromosome 12 in humans, the fully termed Centrosomal Protein 290, or CEP290, codes a protein mostly found in the centrosome and cilia. Particularly in the development and maintenance of cilia, the protein product of CEP290 is essential for many different cellular functions. It contains several conserved domains, including 13 predicted coiled-coil domains, a region homologous to the SMC chromosome segregation ATPase, 6 KID domains, 3 actin homologous domains, and an ATP/GTP binding site A domain. These domains endow the CEP290 protein with diverse biological functions, especially in ciliogenesis and its maintenance.

Molecular Function of CEP290

The CEP290 protein is involved in two major cellular functions: ciliogenesis and maintenance, and the participation in various cellular biological processes such as signal transduction, protein transport, and gene expression regulation. Specifically, CEP290 interacts with other cilia-related proteins, playing essential roles in both the early and late stages of cilia formation. Its mechanisms of action include:

Cilia Formation and Transition: CEP290 binds to CCP110 to inhibit the formation of primary cilia and also participates in forming the cilia transition zone structure. It may regulate ciliary membrane components to control cilia generation in specific cell types.

Protein Transport and Localization: In photoreceptor cells, CEP290 helps localize proteins involved in phototransduction, especially in the retina, by promoting essential protein transport. This is crucial for maintaining the structure and function of photoreceptor cell outer segments.

Regulating BBSome Complex Integrity: CEP290 influences the integrity and directional transport of specific proteins in cilia by regulating the stability of the BBSome complex, which is associated with disorders like Bardet-Biedl syndrome (BBS).

CEP290 Mutations and Associated Diseases

Mutations in the CEP290 gene are closely linked to a variety of ciliopathies, with clinical manifestations ranging from isolated blindness to complex syndromes such as Joubert syndrome (JS), Senior-Loken syndrome (SLS), nephronophthisis (NPHP), and Leber congenital amaurosis (LCA). Despite over 100 identified CEP290 mutations, the lack of a clear genotype-phenotype correlation complicates the prediction of clinical manifestations associated with CEP290 mutations.

Figure 1 illustrates the overlap of CEP290 mutations across various genetic disorders, highlighting the associations between specific mutations and conditions like Leber Congenital Amaurosis, Senior-Loken Syndrome, Joubert Syndrome, and others.Figure 1. The overlap of CEP290 mutations across different diseases, with abbreviations for the associated conditions. (Coppieters F, et al., 2010)

Usually showing cerebellar deformities, visual defects, and renal problems, Joubert Syndrome (JS) and Senior-Loken Syndrome (SLS) are hereditary diseases. Among the causing genes are CEP290 mutations; many patients have aberrant cilia structures.

Common congenital retinal dystrophy, Leber Congenital Amaurosis (LCA), has CEP290 mutations as a major cause, especially the deep intronic mutation c.2991+1655A), which causes retinal function to be impaired. Premature termination of CEP290 synthesis is hence hampered.

Cep290 mutations have also been related to both Nephronophthisis (NPHP) and Bardet-Biedl Syndrome (BBS), which are systemic disorders marked by cilia malfunction causing multi-organ damage especially affecting the kidneys and retina.

Mostly truncating variants, including 40 nonsense mutations and 48 frameshift mutations, 112 distinct kinds of CEP290 mutations have therefore been found to yet. Most mutations include little deletions or insertions that change the protein-coding sequence, therefore causing loss of function. Typical forms of mutations are:

1. Nonsense and Frameshift Mutations: These mutations typically cause early termination of protein synthesis, resulting in truncated proteins. Many frameshift mutations trigger "nonsense-mediated decay" (NMD) of mRNA, reducing or abolishing protein function.

2. Deep Intronic Mutations: For example, the c.2991+1655A>G mutation introduces new splice sites, leading to the insertion of hidden exons and prematurely truncated proteins, which are particularly common in LCA patients.

3. Missense Mutations: These mutations often impair protein function. For instance, the p.Trp7Cys mutation is predicted to disrupt CEP290 functionality, though it does not affect protein localization.

4. Splice Site Mutations: Some CEP290 mutations affect donor or acceptor splice sites, causing abnormal mRNA splicing and impacting normal protein synthesis.

Clinical Significance and Research Challenges of CEP290

Despite the association of numerous CEP290 mutations with various diseases, the diversity of mutations and complexity of phenotypes still pose challenges in establishing precise genotype-phenotype correlations. The exact clinical manifestations often depend on multiple factors, including secondary modifier genes and environmental influences. Moreover, traditional gene sequencing methods may not capture all potential pathogenic mutations, particularly those located in deep introns or regulatory regions of the gene.

As research into cilia biology and the mechanisms of CEP290-related diseases progresses, further understanding of the functions of the CEP290 gene and potential mutation types will lead to more precise genetic diagnoses and treatment strategies.

References:

  1. Vrabič N, Fakin A, et al. Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review. J Fr Ophtalmol. 2024;47(8):104232. doi:10.1016/j.jfo.2024.104232
  2. Coppieters F, Lefever S, et al. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010;31(10):1097-1108.
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