Overview

  • Product name

  • Description

    Rabbit polyclonal to CEP290
  • Host species

    Rabbit
  • Tested applications

    Suitable for: ICC/IF, WB, IP, ICCmore details
  • Species reactivity

    Reacts with: Human
    Predicted to work with: Horse, Rhesus monkey, Gorilla, Orangutan, Elephant
  • Immunogen

    Synthetic peptide corresponding to a region between residue 2429 and 2479 of Human CEP290 (NP_079390.3).

  • Positive control

    • Whole cell lysate from HeLa and 293T cells. IF/ICC: HeLa cell line

Properties

Applications

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.

Application Abreviews Notes
ICC/IF Use a concentration of 5 µg/ml.
WB 1/2000 - 1/10000. Predicted molecular weight: 290 kDa.
IP Use at 2-5 µg/mg of lysate.
ICC 1/250 - 1/1000.

Formaldehyde fixation with Triton-X 100 permeabilization is recommended.

Target

  • Function

    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.
  • Tissue specificity

    Ubiquitous. Expressed strongly in placenta and weakly in brain.
  • Involvement in disease

    Defects 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 localization

    Cytoplasm > cytoskeleton > centrosome. Nucleus. Cell projection > cilium. Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells.
  • Information by UniProt
  • Database links

  • Alternative names

    • 3H11AG antibody
    • Bardet-Biedl syndrome 14 protein antibody
    • BBS14 antibody
    • Cancer/testis antigen 87 antibody
    • CE290_HUMAN antibody
    • Centrosomal protein 290 antibody
    • Centrosomal protein 290kDa antibody
    • Centrosomal protein of 290 kDa antibody
    • Cep290 antibody
    • CT87 antibody
    • CTCL tumor antigen se2 2 antibody
    • FLJ13615 antibody
    • FLJ21979 antibody
    • JBTS5 antibody
    • JBTS6 antibody
    • KIAA0373 antibody
    • LCA10 antibody
    • Meckel syndrome, type 4 antibody
    • MKS4 antibody
    • Monoclonal antibody 3H11 antigen antibody
    • Nephrocystin 6 antibody
    • Nephrocystin-6 antibody
    • NPHP6 antibody
    • POC3 antibody
    • POC3 centriolar protein homolog antibody
    • Prostate cancer antigen T21 antibody
    • rd16 antibody
    • SLSN6 1, 2, 5 antibody
    • SLSN6 antibody
    • Tumor antigen se2-2 antibody
    see all

Images

  • 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.

References

This product has been referenced in:

  • Hong H  et al. Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. Ann Neurol 86:99-115 (2019). Read more (PubMed: 31004438) »
  • Shearer RF  et al. The E3 ubiquitin ligase UBR5 regulates centriolar satellite stability and primary cilia. Mol Biol Cell 29:1542-1554 (2018). Read more (PubMed: 29742019) »
See all 5 Publications for this product

Customer reviews and Q&As

1-2 of 2 Abreviews or Q&A

Abreviews
Application
Western blot
Sample
Mouse Cell lysate - whole cell (Kidney)
Gel Running Conditions
Reduced Denaturing (4-20%)
Loading amount
50 µg
Specification
Kidney
Blocking step
Milk as blocking agent for 1 hour(s) and 0 minute(s) · Concentration: 5% · Temperature: 21°C

Simon Ramsbottom

Verified customer

Submitted Aug 05 2015

Answer

Thank you very much for your interest in Anti-CEP290 antibodyab85728.

To our knowledge, ab85728 is specific for the human CEP290, but has not been tested in mouse yet. However, the immunogen shares a sequence similarity of 78% with the murine orthologue (SwissProt ID Q6A078), and thus a cross-reactivity cannot be excluded.

If you are interested in finding an CEP290 antibody that also cross-reacts with mouse,I can recommend either testing ab85728 or one of our other CEP290 antibodies, for example ab110053.
https://www.abcam.com/index.html?datasheet=110053 (or use the following: https://www.abcam.com/index.html?datasheet=110053).

We also have ab128231 available, which is guaranteed to work with mouse and might cross-react with human due to sequence similarity: https://www.abcam.com/index.html?datasheet=128231 (or use the following: https://www.abcam.com/index.html?datasheet=128231).

For each of these I can offer a discount off a future purchase if you buy the antibody now, test it in mouse (or human, for ab128231)and submit feedback to us in the form of an Abreview. It doesn’t matter whether the Abreview is positive or negative, we would just really like to receive your feedback. The discount would be to the value of 1 free primary antibody.

If you are interested in this offer, please follow these steps:

1. Reply to this e-mail to let me know that you would like to proceed andwhich antibody you would like to test in mouse.I will then send a discount code. This code must be issued before purchasingthe antibodyso please wait for my reply before ordering.

2. Purchase the antibody either by phone, fax, or online (www.abcam.com).

3. Test it in mouse (or human).

4. Let us know the results, positive or negative, using our Abreview system (this will take about 10 minutes and images are great if you have them!). To find out more about our Abreview system, please visit: https://www.abcam.com/abreviews

5. After the review is submitted to us, the discount code becomes active. Simply place your new order by phone, fax, or on the web and mention the discount code. The discount can be redeemed for any primary antibody ordered and the discount code is valid for 4 months after issue.

We are always pleased to obtain feedback about our products and any information is greatly appreciated! Even if the antibody turns out to be unsuitable for mouse, you will still receive the discount on your next purchase after your Abreview has been submitted.

Please let me know if you have any questions about this offer and I would be happy to help you further.

The Terms and Conditions of this offer can be found at: https://www.abcam.com/collaborationdiscount

If you are on the other hand interested in an CEP290 antibody that is specific for human CEP290 and does NOT cross-react withthe murine protein (i.e. for xenograft studies), I am not sure ifab85728is the best option due to the high sequence similarity. However,I couldenquire with the originator of our CEP290 antibodieswhether we have an antibody available which has specifically been tested for cross-reactivity and does not detect the mouse CEP290. Please do let me know if this is the case, and I would be happy to investigate this for you.

I hope this information is helpful to you. Please do not hesitate to contact us if you need any more advice or information.

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