Key features and details
- Rabbit polyclonal to CEP290
- Suitable for: ICC, WB, IP
- Reacts with: Human
- Isotype: IgG
Product nameAnti-CEP290 antibody
See all CEP290 primary antibodies
DescriptionRabbit polyclonal to CEP290
Tested applicationsSuitable for: ICC, WB, IPmore details
Species reactivityReacts with: Human
Predicted to work with: Horse, Rhesus monkey, Gorilla, Orangutan, Elephant
Synthetic peptide corresponding to a region between residue 2429 and 2479 of Human CEP290 (NP_079390.3).
Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Storage bufferPreservative: 0.09% Sodium azide
Constituent: Tris citrate/phosphate
Concentration information loading...
PurityImmunogen affinity purified
Our Abpromise guarantee covers the use of ab85728 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|ICC||Use at an assay dependent concentration.|
|WB||1/2000 - 1/10000. Predicted molecular weight: 290 kDa.|
|IP||Use at 2-5 µg/mg of lysate.|
FunctionActivates 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.
Tissue specificityUbiquitous. Expressed strongly in placenta and weakly in brain.
Involvement in diseaseDefects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5) [MIM:610188]. Joubert syndrome is an autosomal recessive disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the 'molar tooth sign' on axial magnetic resonance imaging), psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities. JBTS5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
Defects in CEP290 are a cause of Senior-Loken syndrome type 6 (SLSN6) [MIM:610189]. Senior-Loken syndrome is also known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease.
Defects in CEP290 are the cause of Leber congenital amaurosis type 10 (LCA10) [MIM:611755]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
Defects in CEP290 are the cause of Meckel syndrome type 4 (MKS4) [MIM:611134]. MKS4 is an autosomal recessive 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.
Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population.
Defects in CEP290 are the cause of Bardet-Biedl syndrome type 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. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance).
Cellular localizationCytoplasm > cytoskeleton > centrosome. Nucleus. Cell projection > cilium. Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells.
- Information by UniProt
- 3H11AG antibody
- Bardet-Biedl syndrome 14 protein antibody
- BBS14 antibody
All lanes : Anti-CEP290 antibody (ab85728) at 0.1 µg/ml
Lane 1 : Whole cell lysate from HeLa cells at 50 µg
Lane 2 : Whole cell lysate from HeLa cells at 15 µg
Lane 3 : Whole cell lysate from HeLa cells at 5 µg
Lane 4 : Whole cell lysate from 293T cells at 50 µg
Developed using the ECL technique.
Predicted band size: 290 kDa
Observed band size: 270 kDa why is the actual band size different from the predicted?
Additional bands at: 100 kDa, 200 kDa. We are unsure as to the identity of these extra bands.
Exposure time: 30 seconds
Immunocytochemistry/Immunofluorescence analysis of NBF-fixed asynchronous HeLa cells labelling CEP290 with ab85728 at 1/500. A DyLight® 594-conjugated goat anti-rabbit IgG (1/100) was used as the secondary antibody.
ICC/IF image of ab85728 stained HeLa cells. The cells were 4% formaldehyde fixed (10 min) and then incubated in 1%BSA / 10% normal goat serum / 0.3M glycine in 0.1% PBS-Tween for 1h to permeabilise the cells and block non-specific protein-protein interactions. The cells were then incubated with the antibody (ab85728, 5µg/ml) overnight at +4°C. The secondary antibody (green) was ab96899, DyLight® 488 goat anti-mouse IgG (H+L) used at a 1/250 dilution for 1h. Alexa Fluor® 594 WGA was used to label plasma membranes (red) at a 1/200 dilution for 1h. DAPI was used to stain the cell nuclei (blue) at a concentration of 1.43µM.
Detection of Human CEP290 in Immunoprecipitates of Whole cell lysate from HeLa cells (1 mg for IP, 20% of IP loaded) using ab85728 at 3 µg/mg lysate for IP (Lane 1) and at 1 µg/ml for subsequent Western blot detection. Lane 2 represents control IgG IP. Detection: Chemiluminescence with an exposure time of 10 seconds.
ab85728 has been referenced in 7 publications.
- Hong H et al. Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. Ann Neurol 86:99-115 (2019). PubMed: 31004438
- Molinari E et al. Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts. Sci Rep 9:10828 (2019). PubMed: 31346239
- Frikstad KM et al. A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling. Cell Rep 28:1907-1922.e6 (2019). PubMed: 31412255
- Shearer RF et al. The E3 ubiquitin ligase UBR5 regulates centriolar satellite stability and primary cilia. Mol Biol Cell 29:1542-1554 (2018). PubMed: 29742019
- Srivastava S et al. A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies. Hum Mol Genet 26:4657-4667 (2017). PubMed: 28973549
- Burnight ER et al. CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. Gene Ther 21:662-72 (2014). WB ; Human . PubMed: 24807808
- Staples CJ et al. Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability. J Cell Sci 127:2910-9 (2014). PubMed: 24816561