Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3 (IPR030804)
Short name: BBS5/fem-3
Overlapping homologous superfamilies
- Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3 (IPR030804)
- Bardet-Biedl syndrome 5 protein (IPR006606)
Bardet-Biedl syndrome 5 protein (BBS5) is part of the BBSome complex that may function as a coat complex required for sorting of specific membrane proteins to the primary cilia [PMID: 17574030]. Mutations in the BBS5 gene cause Bardet-Biedl syndrome 5, which is a syndrome characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [PMID: 15137946, PMID: 21344540].
Also included in this family is fem-3, required for male development in Caenorhabditis elegans. Together with fem-2, fem-3 associates with the CBC(fem-1) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of tra-1, a transcription factor that is the terminal effector of the sex-determination pathway [PMID: 17609115].
- PIRSF010072 (DUF1448)