BBS1

Gene Symbol BBS1
Entrez Gene 582
Alt Symbol BBS2L2
Species Human
Gene Type protein-coding
Description Bardet-Biedl syndrome 1
Other Description BBS2-like protein 2|Bardet-Biedl syndrome 1 protein
Swissprots Q8NFJ9 Q32MN0 Q96SN4 Q32MM9
Accessions CDI06878 EAW74542 Q8NFJ9 AF503941 AAM92770 AK027243 BAB15704 AK095638 AK294962 BAG58036 AK296311 BAG59009 AK302657 BAG63895 BC047642 AAH47642 BC109064 AAI09065 BC109065 AAI09066 BX647612 CAI46060 NM_024649 NP_078925
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 proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
Subcellular Location Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
Tissue Specificity Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.

Human-BBS1-cDNA-Clone - DC09519 from Abgent, a WuXi AppTec company

Prices $800.55
Sizes 10 µg
Species Human
Accession BC109064

BBS1 - MBS1271438 from MyBioSource

Species Human
Accession BC047642

BBS1 - MBS1268891 from MyBioSource

Prices $175.00
Sizes 10ug plasmid + 200ul glycerol stock
Species Human
Accession BC109064

BBS1 - CL01210H01 from Elabscience

Species Human
Accession NM_024649.4

Human BBS1 ORF clone(NM_024649.4) - CDCL182815 from Creative biogene

Species Human

Human BBS1 ORF Clone (BC109064) - CDCS415777 from Creative biogene

Species Human
Accession Q8NFJ9

Human BBS1 ORF Clone (BC047642) - CDCS415778 from Creative biogene

Species Human
Accession Q8NFJ9

Human BBS1 cDNA Clone(NM_024649.4) - CDFG004556 from Creative biogene

Species Human
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