Mouse Anti-BBS5 Recombinant Antibody (B11) (CBMAB-AP561LY)

Name: Mouse Anti-BBS5 Recombinant Antibody (B11)
SKU: CBMAB-AP561LY
Rating: 5 (1 reviews)

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Published Data

Mouse Anti-BBS5 Recombinant Antibody (B11) (CBMAB-AP561LY) in IF

YFP-tagged BBSome subunits localize to the primary cilia (Ac-tub) in WT RPE1 cell lines. YFP-BBS1 localizes to the centrosome (Ninein) in the BBS4 KO cells, whereas the other YFP-tagged BBSome subunits are diffused in the cytoplasm. Scale bar, 5 um. ...View More

Prasai, A., Cernohorska, M. S., Ruppova, K., Niederlova, V., Andelova, M., Draber, P., ... & Huranova, M. (2020). The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells. Journal of Biological Chemistry, 295(42), 14279-14290.

Mouse Anti-BBS5 Recombinant Antibody (B11) (CBMAB-AP561LY) in IP

BBSome assembly is not altered in Cep290fl/fl;Cre retinas. Retinal protein extracts from Cep290/fl;Cre? and Cep290fl/fl;Cre retinas were subjected to immunoprecipitation (IP) with anti-BBS7 antibody. Normal rabbit IgG was used as a negative control. Co-precipitated BBS proteins were detected by immunoblotting. ...View More

Datta, P., Hendrickson, B., Brendalen, S., Ruffcorn, A., & Seo, S. (2019). The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors. Journal of Biological Chemistry, 294(50), 19119-19136.

Datasheet

Summary

Host Animal

Mouse

Specificity

Human, Mouse, Rat

Clone

B11

Antibody Isotype

IgG1, κ

Application

WB, IP, IF, ELISA

Basic Information

Immunogen

Amino acids 23-46 near the N-terminus of BBS5 of human origin.

Host Species

Mouse

Specificity

Human, Mouse, Rat

Antibody Isotype

IgG1, κ

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Application	Note
WB	1:100-1:1,000
IP	1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
IF(ICC)	1:50-1:500
ELISA	1:100-1:1,000

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Buffer

PBS, 0.1% gelatin

Preservative

< 0.1% sodium azide

Concentration

0.2 mg/ml

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name

Bardet-Biedl Syndrome 5

Introduction

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

Entrez Gene ID

Human	129880
Mouse	72569

UniProt ID

Human	Q8N3I7
Mouse	Q9CZQ9

Alternative Names

Bardet-Biedl Syndrome 5;

Function

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for BBSome complex ciliary localization but not for the proper complex assembly.

Biological Process

Cilium assembly Source: BHF-UCL
Heart looping Source: BHF-UCL
Intracellular transport Source: GO_Central
Melanosome transport Source: BHF-UCL
Motile cilium assembly Source: BHF-UCL
Protein transport Source: UniProtKB-KW
Response to stimulus Source: UniProtKB-KW
Visual perception Source: UniProtKB-KW

Cellular Location

Cytoplasm; Cilium membrane; Cilium basal body; Centriolar satellite. Localizes to basal bodies.

Involvement in disease

Bardet-Biedl syndrome 5 (BBS5): 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.

More Infomation

References

Torrefranca, A. B., Santiago, A. P. D., Lingao, M. D., & Racoma, M. J. C. (2020). Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS). Ophthalmic Genetics, 41(6), 621-624.

Imani, S., Cheng, J., Fu, J., Mobasher-Jannat, A., Wei, C., Mohazzab-Torabi, S., ... & Fu, J. (2019). Novel splicing variant c. 208+ 2T> C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing. Bioscience reports, 39(3), BSR20181544.

Hey, C. A. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D., & Møller, L. B. (2019). Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant. Stem cell research, 41, 101594.

Smith, C. C., Bolch, S., Dugger, D., & Livingston, E. (2018). Heat Shock Protein-27 is an Element of the BBS5 Interactome in Photoreceptors. Investigative Ophthalmology & Visual Science, 59(9), 3056-3056.

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

Associated Products

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Mouse Anti-BBS5 Recombinant Antibody (CF046)

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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