Family

Bardet-Biedl syndrome 1 protein (IPR028784)

Short name: BBS1

Family relationships

None.

Description

Bardet-Biedl syndrome is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [PMID: 12118255]. Bardet-Biedl syndrome proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10) form the BBSome complex, which may function as a coat complex required for sorting of specific membrane proteins to the primary cilia [PMID: 17574030]. The ciliary trafficking function of BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [PMID: 22072986].

Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype [PMID: 18334641]. Of the 12 known BBS genes, BBS1 is the most commonly mutated [PMID: 18032602].

This entry represents BBS1.

GO terms

Biological Process

GO:1905515 non-motile cilium assembly

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0034464 BBSome

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER