IFT81

Cilia effects upon perturbation of IFT81

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]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-5.39) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=146, lfc=-2.99) PMID:30270045

Phenotypes

Mouse phenotype:

decreased heart rate, preweaning lethality, complete penetrance, increased startle reflex, decreased locomotor activity, decreased grip strength

Human ciliopathy phenotype:

short rib dysplasia; short-rib thoracic dysplasia 19 with or without polydactyly; short rib-polydactyly syndrome

Ciliopathy associations

• Bardet-Biedl Syndrome
• Short-Rib Thoracic Dysplasia

References: PMID:37427975, PMID:27666822, PMID:32783357

Subcellular localization

basal body, centrosome, cilia

References: PMID:41410385, PMID:41005307, PMID:27068536, PMID:23990561, PMID:26275418

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Cell migration & adhesion

Function

Component of IFT complex B. Interacts with IFT74 to form a tubulin-binding module that is the main site of tubulin binding for IFT and is required for ciliogenesis. Both are essential for flagellar assembly and elongation (27068536, 23990561).