Protein Domain : IPR029333

Type:  Domain Name:  Ciliary BBSome complex subunit 2, C-terminal domain
Description:  Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterised by many features, including retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. The BBSome is a complex of 8 subunits that lies at the base of the flagellar microtubule structure. The precise function of the all the individual components in cilia formation is unclear, however they function to promote loading of cargo to the ciliary axoneme []. The primary cilium, a slim microtubule-based organelle that projects from the surface of vertebrate cells has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialised for Hedgehog (Hh) signal transduction. Formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction [].BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus [], and BBS2 and 4 are also required for the localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia []. Short Name:  BBS2_C
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0 Child Features

0 Contains

1 Cross References

Identifier
PF14782

0 Found In

0 GO Annotation

0 Ontology Annotations

0 Parent Features

6 Proteins

DB identifier UniProt Accession Secondary Identifier Organism Name Length
29081 C1N2W8 PAC:27348870 Micromonas pusilla CCMP1545 729  
57477 C1E555 PAC:27400540 Micromonas sp RCC299 727  
Cre06.g257250.t1.1 A0A2K3DMF6 PAC:30779676 Chlamydomonas reinhardtii 708  
Dusal.0044s00008.1.p PAC:33194929 Dunaliella salina 725  
Cz15g12140.t1 PAC:38234951 Chromochloris zofingiensis 703  
Vocar.0002s0661.1.p PAC:32890765 Volvox carteri 523  

4 Publications

First Author Title Year Journal Volume Pages PubMed ID
            17574030
            18334641
            19150989
            20395968