InterPro domain: IPR040379
General Information
- Identifier IPR040379
- Description WD repeat-containing protein 19/dyf-2
- Number of genes 8
- Gene duplication stats Loading...
- Associated GO terms GO:0035721
Abstract
Proteins in this entry contain WD40 repeats, and include WD repeat-containing proteins 19 (WDR19), from mammals, and dyf-2 from nematodes. Both WDR19 and dyf-2 are components of the IFT complex A (IFT-A), which is required for retrograde ciliary transport [ 1 , 2 ]. Mutations in the WDR19 gene are associated with numerous diseases, including cranioectodermal dysplasia 4, short-rib thoracic dysplasia 5 with or without polydactyly, nephronophthisis 13 [ 3 ], and Senior-Loken syndrome 8 [ 4 ].
1. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. Genes Dev. 24, 2180-93
2. Dynein-Driven Retrograde Intraflagellar Transport Is Triphasic in C. elegans Sensory Cilia. Curr. Biol. 27, 1448-1461.e7
3. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am. J. Hum. Genet. 89, 634-43
4. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin. Genet. 84, 150-9