UniProt ID | BBS5_HUMAN | |
---|---|---|
UniProt AC | Q8N3I7 | |
Protein Name | Bardet-Biedl syndrome 5 protein | |
Gene Name | BBS5 | |
Organism | Homo sapiens (Human). | |
Sequence Length | 341 | |
Subcellular Localization | Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Localizes to basal bodies.. | |
Protein Description | 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 BBSome complex ciliary localization but not for the proper complex assembly.. | |
Protein Sequence | MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGLALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS | |
Overview of Protein Modification Sites with Functional and Structural Information | ||
* ASA = Accessible Surface Area
Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
---|---|---|---|---|---|
18 | Phosphorylation | RDVRFDLSAQQMKTR CCCCEEECHHHHCCC | 26.35 | - | |
24 | Phosphorylation | LSAQQMKTRPGEVLI ECHHHHCCCCCCEEE | 36.43 | - | |
65 | Phosphorylation | LWHSLALSRVNVSVG HHHHHHHHCCCEECC | 28.68 | 24719451 | |
135 | Ubiquitination | HRAYETSKMYRDFKL HHHHHHHHHHHCHHH | 47.58 | - | |
150 | Ubiquitination | RSALIQNKQLRLLPQ HHHHHHCCCCCCCCC | 34.04 | - | |
248 | Ubiquitination | EKLQESVKEINSLHK HHHHHHHHHHHHHHH | 63.26 | - | |
252 | Phosphorylation | ESVKEINSLHKVYSA HHHHHHHHHHHHHHC | 37.20 | 30622161 | |
326 | Ubiquitination | ELGLAIEKLKDGFTL HHHHHHHHHCCCCEE | 55.51 | - |
Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of BBS5_HUMAN !! |
Modified Location | Modified Residue | Modification | Function | Reference | ||
---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of BBS5_HUMAN !! |
* Distance = the distance between SAP position and PTM sites.
Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of BBS5_HUMAN !! |
Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
---|---|---|---|---|
KLC3_HUMAN | KLC3 | physical | 25416956 | |
BBS1_HUMAN | BBS1 | physical | 28514442 | |
BBS7_HUMAN | BBS7 | physical | 28514442 | |
BBS4_HUMAN | BBS4 | physical | 28514442 | |
PTHB1_HUMAN | BBS9 | physical | 28514442 | |
TTC8_HUMAN | TTC8 | physical | 28514442 | |
BBS2_HUMAN | BBS2 | physical | 28514442 | |
BBS7_HUMAN | BBS7 | physical | 27173435 |
Kegg Drug | ||||||
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DrugBank | ||||||
There are no disease associations of PTM sites. |
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