Recombinant Human BBS9 protein (ab162122)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: WB, ELISA
Description
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Product name
Recombinant Human BBS9 protein -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MGYLRIFSPHPAKTGDGAQAEDLLLEVDLRDPVLQVEVGKFVSGTEMLHL AVLHSRKLCVYSVSGTLGNVEHGNQCQMKLMYEHNLQRTACNMTYGSFGG VKGRDLICIQSMDGMLMVFEQESYAFGRFLPGFLLPGPLAYSSRTDSFLT VSSCQQVESYKYQVLAFATDADKRQETEQQKLGSGKRLVVDWTLNIGEQA LDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFMKKLDWSPSCFLPYCS VSEGTINTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLQFSLWKH LLPRSSTLEK -
Amino acids
1 to 310 -
Tags
GST tag N-Terminus -
Additional sequence information
This protein is the full length isoform 5 (Q3SYG4-5).
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Specifications
Our Abpromise guarantee covers the use of ab162122 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
Western blot
ELISA
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Form
Liquid -
Additional notes
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- B1
- Bardet Biedl syndrome 9
- Bardet-Biedl syndrome 9 protein
see all -
Function
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. -
Tissue specificity
Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. -
Involvement in disease
A chromosomal aberration involving PTHB1 is found in Wilms tumor 5 (WT5) [MIM:601583]. Translocation t(1;7)(q42;p15) with OBSCN.
Defects in BBS9 are a cause of Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. -
Cellular localization
Cytoplasm > cytoskeleton > centrosome. Cell projection > cilium membrane. Cytoplasm. Localizes to nonmembranous centriolar satellites in the cytoplasm. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (0)
ab162122 has not yet been referenced specifically in any publications.