IFT46
intraflagellar transport 46
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000118096
- UniProt:
- Q9NQC8
- OMIM:
- 620506
- Synonyms:
- C11ORF2, C11ORF60, CFAP32, FAP32, FLJ21827
Cilia effects upon perturbation of IFT46
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
- Overexpression effect:
- No effect
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-11.76) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.42) PMID:29459680
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=116, lfc=-1.26) PMID:30270045
Ciliopathy associations
- Primary Ciliary Dyskinesia
References: PMID:33628615, PMID:27320864
Subcellular localization
basal body, centrosome, cilia
References: PMID:41005307, PMID:25722189, PMID:29915351, PMID:28701346
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
Function
Component of IFT complex B, required for ciliogenesis and controls cilia number and length (25722189). Plas a role in the transport of IFT proteins between the cytoplasm and cilia (29915351). IFT46 is crucial for transport of ODA16 into the flagellum, it interacts with IFT52 to assembly a subcomplex which is a prerequisite for the assembly of IFT-B1 (28701346).