InnateDB Protein
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IDBP-534710.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Bbs9
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Protein Name
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Bardet-Biedl syndrome 9 (human)
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Synonyms
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000122058
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InnateDB Gene
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IDBG-144106 (Bbs9)
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Protein Structure
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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 (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cell projection, cilium membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
11 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:2442833
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q811G0
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PhosphoSite |
PhosphoSite-Q811G0
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TrEMBL |
D3Z6T1
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UniProt Splice Variant |
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Entrez Gene |
319845
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UniGene |
Mm.176725
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RefSeq |
XP_006510480
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MGI ID |
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MGI Symbol |
Bbs9
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OMIM |
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CCDS |
CCDS22928
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HPRD |
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IMGT |
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EMBL |
AC093926
AC113106
AC113127
AC164882
AK053503
AK144730
BC030419
BC046426
BC054441
U85993
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GenPept |
AAB61920
AAH30419
AAH46426
AAH54441
BAC35408
BAE26036
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