Recombinant Human BBS1 protein (ab157954)
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Overview
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Product nameRecombinant Human BBS1 protein
See all BBS1 proteins and peptides -
Protein lengthFull length protein
Description
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NatureRecombinant
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SourceWheat germ
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Amino Acid Sequence
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Accession
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SpeciesHuman
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SequenceMSPGPQLWHLLQALVSMCIRISDPTSSSAYPNCLQILWNKTFGTRPKRET AEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNLAD EDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFR LAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLH GFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKA LLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAMFVEGG SEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLR AARAYLQALESSLSPLSTTAREPLKLHAVVQGLGPTFKLTLHLQNTSTTR PVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGISD IIKVGPALVPRGR
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Amino acids1 to 463
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Tagsproprietary tag N-Terminus
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Specifications
Our Abpromise guarantee covers the use of ab157954 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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FormLiquid
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Additional notesProtein concentration is above or equal to 0.05 mg/ml.
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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
- AI451249
- Bardet-Biedl syndrome 1
- Bardet-Biedl syndrome 1 homolog
see all -
FunctionThe 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 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.
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Tissue specificityHighly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
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Involvement in diseaseDefects in BBS1 are a cause of Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder 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. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. 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).
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Cellular localizationCell projection > cilium membrane. Cytoplasm. Localizes to nonmembranous centriolar satellites in the cytoplasm.
- Information by UniProt
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References
ab157954 has not yet been referenced specifically in any publications.