SMART: Pfam domain BBS2

The domain within your query sequence starts at position 20 and ends at position 161; the E-value for the BBS2_N domain shown below is 1.4e-62.

AIGRYDGTHPCLAAATQAGKVFIHNPHTRSQHFSASRVFQSPLESDVSLLNINQTVSCLG
SGVLNPELGYDTLLVGTQTSLLAYDIYNNSDLFYREVSDGANAIVLGTLGDIAPPLAIIG
GNCALQGFDHEGNDLFWTVTGD

BBS2_N

PFAM accession number:	PF14781
Interpro abstract (IPR029430):	This entry represents the N-terminal domain of the Bardet-Biedl syndrome 2 protein. The BBSome (so-named after the association with Bardet-Biedl syndrome) 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 [ (PUBMED:17574030) ]. 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 [ (PUBMED:20395968) ]. BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus [ (PUBMED:19150989) ], and BBS2 and 4 are also required for the localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia [ (PUBMED:18334641) ].

PFAM accession number:

PF14781

Interpro abstract (IPR029430):

This entry represents the N-terminal domain of the Bardet-Biedl syndrome 2 protein.

The BBSome (so-named after the association with Bardet-Biedl syndrome) 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 [ (PUBMED:17574030) ]. 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 [ (PUBMED:20395968) ].

BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus [ (PUBMED:19150989) ], and BBS2 and 4 are also required for the localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia [ (PUBMED:18334641) ].

This is a PFAM domain. For full annotation and more information, please see the PFAM entry BBS2_N