InnateDB Protein
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IDBP-234437.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CEP290
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Protein Name
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centrosomal protein 290kDa
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000380938
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InnateDB Gene
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IDBG-50244 (CEP290)
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Protein Structure
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Function |
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. {ECO:0000250, ECO:0000269PubMed:16682973}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme (By similarity). Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock. {ECO:0000250}.
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Disease Associations |
Joubert syndrome 5 (JBTS5) [MIM:610188]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. {ECO:0000269PubMed:16682970, ECO:0000269PubMed:16682973, ECO:0000269PubMed:22425360}. Note=The disease is caused by mutations affecting the gene represented in this entry.Senior-Loken syndrome 6 (SLSN6) [MIM:610189]: A renal- retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269PubMed:20683928}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:16909394}. Note=The disease is caused by mutations affecting the gene represented in this entry.Meckel syndrome 4 (MKS4) [MIM:611134]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269PubMed:17564974}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. {ECO:0000269PubMed:11149944}.Bardet-Biedl syndrome 14 (BBS14) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:18327255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous. Expressed strongly in placenta and weakly in brain. {ECO:0000269PubMed:11149944, ECO:0000269PubMed:16682973}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 24 interaction(s) predicted by orthology.
Experimentally validated |
Total |
18
[view]
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Protein-Protein |
17
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
24 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O15078
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PhosphoSite |
PhosphoSite-O15078
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
80184
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UniGene |
Hs.150444
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RefSeq |
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HUGO |
HGNC:29021
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OMIM |
610142
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CCDS |
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HPRD |
10856
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IMGT |
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EMBL |
AB002371
AC091516
AF273044
AK023677
AK025632
BK005587
DQ109808
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GenPept |
AAG34904
AAZ83370
BAA20828
BAB15196
DAA05591
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