TRAF3IP1

Cilia effects upon perturbation of TRAF3IP1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (5 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.88) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-5.4) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-3.43, ciliated=11.4%) PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=454, lfc=-2.37) PMID:30270045

Phenotypes

Mouse phenotype:

increased cornea thickness, abnormal somite shape, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, edema, embryonic growth retardation, abnormal embryo size, abnormal pericardium morphology

Mouse ciliopathy phenotype:

abnormal heart morphology, abnormal embryo turning

Human ciliopathy phenotype:

Senior-Loken syndrome; Senior-Loken syndrome 9

Ciliopathy associations

• Senior-Løken Syndrome

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transition zone

Function

Also known as IFT54. Evolucio irly conserved role in ciliogenesis, interacts with with tubulin and actin. Mutations lead to altered cilia mediated hedgehog sig ling (21945076). Plays a critical role in IFT, as well as building and maintaining functio l cilia (18369462). IFT-B subunit which regulates ciliary composition. I ctivation is embryonic lethal and causes characteristic ciliopathy phenotypes (26487268). Interacts with and stabilises IFT20 and Rabaptin5, which in turn interacts with Rab8, suggesting a potential role for IFT in regulating the assembly of ciliary membranes. It may also participate in tubulin transport for ciliogenesis. Loss of IFT54 impairs cilia assembly as well as cytoplasmic MT dy mics (28417161). Interacts with both kinesin鈥怚I and IFT dynein and regulates anterograde IFT (33368450).

Model organism evidence