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Details on Person UniProt:Q8N3I7 BBS5
| Class:Id | ReferenceGeneProduct:219934 |
|---|---|
| _chainChangeLog | chain:1-341 added on Fri February 6 2015 |
| _displayName | UniProt:Q8N3I7 BBS5 |
| _timestamp | 2024-11-03 20:04:29 |
| chain | chain:1-341 |
| checksum | 63D67D877FDFD25B |
| comment | 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 BBSome complex ciliary localization but not for the proper complex assembly.SUBUNIT Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Binds to phosphoinositides. Interacts with CCDC28B. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO. Interacts with PKD1 (PubMed:24939912). Interacts with DLEC1 (PubMed:33144677).INTERACTION Localizes to basal bodies.ALTERNATIVE PRODUCTS The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS BBS5 may interact genetically with BBS1.SIMILARITY Belongs to the BBS5 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="11"BBSome complex member BBS5 alternativeName: Bardet-Biedl syndrome 5 protein |
| geneName | BBS5 |
| identifier | Q8N3I7 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Bardet-Biedl syndrome Cell membrane Cell projection Ciliopathy Cilium Cilium biogenesis/degradation Cytoplasm Cytoskeleton Disease variant Intellectual disability Membrane Obesity Protein transport Proteomics identification Reference proteome Sensory transduction Transport Vision |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | BBS5 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9001037] ENSEMBL:ENSG00000163093 BBS5 [Homo sapiens] |
| secondaryIdentifier | BBS5_HUMAN D3DPC3 Q6PKN0 |
| sequenceLength | 341 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:219935] UniProt:Q8N3I7-2 BBS5 [Homo sapiens] [ReferenceIsoform:411237] UniProt:Q8N3I7-1 BBS5 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:5617633] BBS5 [cytosol] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q8N3I7 BBS5 (219934)
