Product Name
Bardet-Biedl syndrome 1 protein (BBS1), Recombinant Protein
Full Product Name
Recombinant Human Bardet-Biedl syndrome 1 protein (BBS1)
Product Gene Name
BBS1 recombinant protein
[Similar Products]
Product Synonym Gene Name
BBS1[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Positions
2-593aa, Full Length of Mature Protein
Sequence
AAASSSDSDA CGAESNEANS KWLDAHYDPM ANIHTFSACL ALADLHGDGE YKLVVGDLGP GGQQPRLKVL KGPLVMTESP LPALPAAAAT FLMEQHEPRT PALALASGPC VYVYKNLRPY FKFSLPQLPP NPLEQDLWNQ AKEDRIDPLT LKEMLESIRE TAEEPLSIQS LRFLQLELSE MEAFVNQHKS NSIKRQTVIT TMTTLKKNLA DEDAVSCLVL GTENKELLVL DPEAFTILAK MSLPSVPVFL EVSGQFDVEF RLAAACRNGN IYILRRDSKH PKYCIELSAQ PVGLIRVHKV LVVGSTQDSL HGFTHKGKKL WTVQMPAAIL TMNLLEQHSR GLQAVMAGLA NGEVRIYRDK ALLNVIHTPD AVTSLCFGRY GREDNTLIMT TRGGGLIIKI LKRTAVFVEG GSEVGPPPAQ AMKLNVPRKT RLYVDQTLRE REAGTAMHRA FQTDLYLLRL RAARAYLQAL ESSLSPLSTT AREPLKLHAV VQGLGPTFKL TLHLQNTSTT RPVLGLLVCF LYNEALYSLP RAFFKVPLLV PGLNYPLETF VESLSNKGIS DIIKVLVLRE GQSAPLLSAH VNMPGSEGLA AA
3D Structure
ModBase 3D Structure for Q8NFJ9
Host
E Coli or Yeast or Baculovirus or Mammalian Cell
Purity/Purification
>85% (SDS-PAGE) (lot specific)
Form/Format
Liquid containing glycerol
Tag Information
This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.
Sterility
Sterile filter available upon request.
Endotoxin
Low endotoxin available upon request.
Storage Buffer
Tris-based buffer, 50% glycerol
Preparation and Storage
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of BBS1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
BBS1 recombinant protein
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
NCBI/Uniprot data below describe general gene information for BBS1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_078925.3
[Other Products]
NCBI GenBank Nucleotide #
NM_024649.4
[Other Products]
UniProt Primary Accession #
Q8NFJ9
[Other Products]
UniProt Secondary Accession #
Q32MM9; Q32MN0; Q96SN4[Other Products]
UniProt Related Accession #
Q8NFJ9[Other Products]
Molecular Weight
49,006 Da
NCBI Official Full Name
Bardet-Biedl syndrome 1 protein
NCBI Official Synonym Full Names
Bardet-Biedl syndrome 1
NCBI Official Symbol
BBS1??[Similar Products]
NCBI Official Synonym Symbols
BBS2L2
??[Similar Products]
NCBI Protein Information
Bardet-Biedl syndrome 1 protein
UniProt Protein Name
Bardet-Biedl syndrome 1 protein
UniProt Synonym Protein Names
BBS2-like protein 2
Protein Family
Bardet-Biedl syndrome 1 protein
UniProt Gene Name
BBS1??[Similar Products]
UniProt Synonym Gene Names
BBS2L2??[Similar Products]
NCBI Summary for BBS1
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
UniProt Comments for BBS1
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 proper BBSome complex assembly and its ciliary localization (PubMed:17574030, PubMed:22072986). Plays a role in olfactory cilium biogenesis/maintenance and trafficking ().
Research Articles on BBS1
1. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively).
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
