| Gene Symbol | BBS9 |
|---|---|
| Entrez Gene | 27241 |
| Alt Symbol | B1, C18, D1, PTHB1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | Bardet-Biedl syndrome 9 |
| Other Description | PTH-responsive osteosarcoma B1 protein|bardet-Biedl syndrome 9 protein|parathyroid hormone-responsive B1 gene protein|protein PTHB1 |
| Swissprots | Q9Y699 Q7KYS7 E9PDC9 Q7KYS6 Q99844 Q3SYG4 Q9Y6A0 Q8N570 Q99854 P78514 |
| Accessions | AAB46606 EAL24466 EAL24467 EAW94015 EAW94016 EAW94017 EAW94018 Q3SYG4 AF095769 AF095770 AAD25980 AF095771 AAD25981 AK057660 BAG51948 AK091361 BAG52340 AK297436 BAG59863 AK314627 AL704922 BC032715 AAH32715 BC103831 AAI03832 BI254810 BX647385 U85994 AAB61918 U85995 AAB61919 U87408 AAB47568 XM_005249700 XP_005249757 XM_005249701 XP_005249758 XM_011515264 XP_011513566 XM_011515265 XP_011513567 XM_011515266 XP_011513568 XM_011515267 XP_011513569 XM_011515268 XP_011513570 XM_011515269 XP_011513571 XM_011515270 XP_011513572 NM_001033604 NP_001028776 NM_001033605 NP_001028777 NM_014451 NP_055266 NM_198428 NP_940820 |
| 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. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}. |
| Subcellular Location | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. |
| Tissue Specificity | Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. {ECO:0000269|PubMed:10221542, ECO:0000269|PubMed:16380913}. |
BBS9 CRISPR/Cas9 KO Plasmid (h) - sc-404329 from Santa Cruz Biotechnology
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BBS9 HDR Plasmid (h) - sc-404329-HDR from Santa Cruz Biotechnology
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BBS9 Double Nickase Plasmid (h) - sc-404329-NIC from Santa Cruz Biotechnology
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BBS9 Double Nickase Plasmid (h2) - sc-404329-NIC-2 from Santa Cruz Biotechnology
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BBS9 CRISPR Activation Plasmid (h) - sc-404329-ACT from Santa Cruz Biotechnology
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BBS9 CRISPR Activation Plasmid (h2) - sc-404329-ACT-2 from Santa Cruz Biotechnology
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BBS9 Lentiviral Activation Particles (h) - sc-404329-LAC from Santa Cruz Biotechnology
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BBS9 Lentiviral Activation Particles (h2) - sc-404329-LAC-2 from Santa Cruz Biotechnology
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BBS9 siRNA (h) - sc-72622 from Santa Cruz Biotechnology
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BBS9 shRNA Plasmid (h) - sc-72622-SH from Santa Cruz Biotechnology
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BBS9 shRNA (h) Lentiviral Particles - sc-72622-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU061171 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN3884 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND3884 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR06413 from Sigma-Aldrich
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BBS9 siRNA (Human) - CRH9034 from Cohesion Biosciences
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BBS9 - MBS8218894 from MyBioSource
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shRNA set against Human BBS9 (NM_198428.2) - SHH245190 from Creative biogene
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shRNA set against Human BBS9(NM_014451.3) - SHG092465 from Creative biogene
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shRNA set against Human BBS9(NM_001033605.1) - SHG092487 from Creative biogene
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shRNA set against Human BBS9(NM_001033604.1) - SHG092545 from Creative biogene
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shRNA set against Human BBS9(NM_014451.3) - SHG092563 from Creative biogene
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shRNA set against Human BBS9(NM_001033605.1) - SHG092577 from Creative biogene
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shRNA set against Human BBS9(NM_198428.2) - SHG092593 from Creative biogene
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Human BBS9 siRNA - orb269536 from Biorbyt
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